79:
1240:, examined the population of Berlin for disease pattern of deafness with retinitis pigmentosa. Liebreich noted Usher syndrome to be recessive, since the cases of blind-deafness combinations occurred particularly in the siblings of blood-related marriages or in families with patients in different generations. His observations supplied the first proofs for the coupled transmission of blindness and deafness, since no isolated cases of either could be found in the family trees.
51:
1130:
Similarly, someone with type I, who is therefore profoundly deaf from birth, may keep good central vision until the sixth decade of life or even beyond. People with type II, who have useful hearing with a hearing aid, can experience a wide range of severity of the RP. Some may maintain good reading vision into their 60s, while others cannot see to read while still in their 40s.
223:), which transmit sound and motion signals to the brain. Alterations in these genes can cause an inability to maintain balance (vestibular dysfunction) and hearing loss. The genes also play a role in the development and stability of the retina by influencing the structure and function of both the rod photoreceptor cells and supporting cells called the
1045:
Since Usher syndrome is incurable at present, it is helpful to diagnose children well before they develop the characteristic night blindness. Some preliminary studies have suggested as many as 10% of children with congenital severe to profound deafness may have Usher syndrome. However, a misdiagnosis
1125:
recently confirmed that there is no USH type IV. As described below, these clinical subtypes may be further subdivided by the particular gene mutated; people with Usher I and II may have any one of six and three genes mutated, respectively, whereas only one gene has been associated with Usher III.
1129:
Usher syndrome is a variable condition; the degree of severity is not tightly linked to whether it is Usher I, II or III. For example, someone with type III may be unaffected in childhood but go on to develop a profound hearing loss and a very significant loss of sight by early-to-mid adulthood.
278:
gene, usherin, is located in the supportive tissue in the inner ear and retina. Usherin is critical for the proper development and maintenance of these structures, which may help explain its role in hearing and vision loss. The location and function of the other two proteins are not yet known.
1120:
Although Usher syndrome has been classified clinically in several ways, the prevailing approach is to classify it into three clinical sub-types called Usher I, II and III in order of decreasing severity of deafness. Although it was previously believed that there was an Usher syndrome type IV,
1057:, although this is often disfavored for children, since its discomfort can also make the results unreliable. Parental consanguinity is a significant factor in diagnosis. Usher syndrome I may be indicated if the child is profoundly deaf from birth and especially slow in walking.
254:
rather than deaf, and their hearing does not degrade over time; moreover, they do not seem to have noticeable problems with balance. They also begin to lose their vision later (in the second decade of life) and may preserve some vision even into middle age.
2784:
1324:(do touch) Deaf-blind Acting Ensemble consists of 11 deaf-blind actors, most of whom are diagnosed with Usher syndrome. The theater group has put on several productions and appeared both locally in Israel and abroad in London and Broadway.
303:
encodes clarin-1, a protein important for the development and maintenance of the inner ear and retina. However, the protein's function in these structures, and how its mutation causes hearing and vision loss, is still poorly understood.
1790:
Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ (2005). "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population".
130:
Usher syndrome is classed into three subtypes (I, II and III) according to the genes responsible and the onset of deafness. All three subtypes are caused by mutations in genes involved in the function of the
146:
The occurrence of Usher syndrome varies across the world and across the different syndrome types, with rates as high as 1 in 12,500 in
Germany to as low as 1 in 28,000 in Norway. Type I is most common in
2209:
Hallgren B (1959). "Retinitis pigmentosa combined with congenital deafness with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: Clinical and geneto-statistical survey".
3857:
1656:
Sadeghi, Mehdi; Cohn, Edward S.; Kelly, William J.; Kimberling, William J.; Tranebjoerg, Lisbeth; Möller, Claes (2004). "Audiological findings in Usher syndrome types IIa and II (non-IIa)".
4131:
1992:
Libé-Philippot, Baptiste; Michel, Vincent; Monvel, Jacques Boutet de; Gal, Sébastien Le; Dupont, Typhaine; Avan, Paul; Métin, Christine; Michalski, Nicolas; Petit, Christine (2017-07-25).
1750:"Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%"
282:
Usher syndrome type II occurs at least as frequently as type I, but because type II may be underdiagnosed or more difficult to detect, it could be up to three times as common as type I.
1895:
1418:
Otterstedde CR, Spandau U, Blankenagel A, Kimberling WJ, Reisser C (2001). "A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I".
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2318:
Sankila EM, Pakarinen H, Kääriäinen H, Aittomäki K, Karjalainen S, Sistonen P, de la
Chapelle A (1995). "Assignment of Usher syndrome type III (USH3) gene to chromosome 3q".
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234:
Worldwide, the estimated prevalence of Usher syndrome type I is 3 to 6 per 100,000 people in the general population. Type I has been found to be more common in people of
3690:
4180:
242:
populations (Louisiana). Among
Acadians, research into haplotype data is consistent with one single mutation being responsible for all cases of Usher syndrome type I.
2062:
Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, et al. (1994). "Clinical diagnosis of the Usher syndromes. Usher
Syndrome Consortium".
3626:
3576:
3270:
2923:
1896:"Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease"
1835:
3695:
2100:
Fishman GA, Kumar A, Joseph ME, Torok N, Andersonj RJ (1983). "Usher's syndrome: ophthalmic and neuro-otologic findings suggesting genetic heterogeneity".
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People with Usher syndrome III are not born deaf but experience a progressive loss of hearing, and roughly half have balance difficulties.
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1153:
that adds the proper protein back ("gene replacement") may alleviate it, provided the added protein becomes functional. Recent studies of
2796:
1926:
944:. If one of the components is missing, this protein complex cannot fulfil its function in the living cell, and it probably comes to the
3263:
3013:
1748:
Roux AF, Faugere V, Le
Guedard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M (2006).
1166:
940:
Using interaction analysis techniques, the identified gene products could be shown to interact with one another in one or more larger
3923:
2916:
2428:
Vernon M (1969). "Usher's syndrome — deafness and progressive blindness. Clinical cases, prevention, theory and literature survey".
1510:
Pakarinen L, Tuppurainen K, Laipapala P, Mäntyjärvi M, Puhakka H (1996). "The ophthalmological course of Usher syndrome type III".
3918:
3837:
3727:
3125:
2895:
2463:
Boughman J, Vernon M, Shaver K (1983). "Usher syndrome: Definition and estimate of prevalence from two high-risk populations".
2189:
Hammerschlag V (1907). "Zur
Kenntnis der hereditaer-degenerativen Taubstummen und ihre differential diagnostische Bedeutung".
4170:
4145:
4026:
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3802:
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residues. Scientists have successfully treated mice with Usher syndrome type 1C, which has a relatively small affected gene.
3827:
3466:
1251:) have been developed recently to study the effects of these gene mutations and to test potential cures for Usher syndrome.
1200:, 1 in 28,000 in Norway, and 1 in 12,500 in Germany. People with Usher syndrome represent roughly one-sixth of people with
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3352:
3314:
1274:
Christine "Coco" Roschaert, director of the Nepal
Deafblind Project, kick-off speaker for Deaf Awareness Week at the
2755:
Usher's syndrome: Deafness and progressive blindness : clinical cases, prevention, theory and literature survey
4015:
3996:
3913:
3020:
2211:
3185:
1464:
Grøndahl J (1987). "Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway".
1345:
Robert
Tarango, first deafblind person to star in a movie, in the role of Artie in the Oscar-nominated short film
1093:
1069:
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2648:
1874:
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1994:"Auditory cortex interneuron development requires cadherins operating hair-cell mechanoelectrical transduction"
156:
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1221:
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3319:
3218:
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3324:
3037:
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1275:
372:
4021:
315:, and individuals of Ashkenazi Jewish heritage. It has been noted rarely in a few other ethnic groups.
3200:
3120:
3075:
2517:
von Gräfe A (1858). "Exceptionelles
Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut".
2005:
1333:
1233:
1201:
991:
336:
228:
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2413:
2142:"Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy"
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881:
140:
78:
59:
1603:
3990:
3666:
3636:
3606:
3586:
3555:
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Liebreich R (1861). "Abkunft aus Ehen unter
Blutsverwandten als Grund von Retinitis pigmentosa".
2236:
1866:
1816:
1681:
1631:
1535:
1489:
1443:
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vision is spared, leading to "doughnut vision"; central and peripheral vision are intact, but an
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development, in mouse and macaque. Their lack of expression induces a decrease in the number of
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2898:
Information from the National Institute on Deafness and Other Communication Disorders (NIDCD).
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185:
177:
120:
67:
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Hashimoto T, Gibbs D, Lillo C, Azarian SM, Legacki E, Zhang XM, Yang XJ, Williams DS (2007).
1224:
of this illness in 1914 on the basis of 69 cases. However, it was first described in 1858 by
1025:
The hearing impairment associated with Usher syndrome is caused by damaged hair cells in the
3958:
3223:
3177:
3058:
2472:
2437:
2376:
2366:
2355:"Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B"
2327:
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2153:
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2013:
1964:
1956:
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108:
982:. Patients with mutations for these genes could have consequently auditory cortex defects.
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941:
368:
251:
50:
2746:
Answers to your questions about Usher's syndrome (retinitis pigmentosa with hearing loss)
2296:
2113:
2009:
1943:
Gerber, S; Bonneau, D; Gilbert, B; Munnich, A; Dufier, JL; Rozet, JM; Kaplan, J (2006).
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the same. The function of this protein complex has been suggested to participate in the
191:
Usher syndrome type I can be caused by mutations in any one of several different genes:
4039:
3536:
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2354:
2224:
2166:
2141:
2036:
1993:
1969:
1944:
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1392:
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1244:
1236:, who had two brothers with the same symptoms. Three years later, one of his students,
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889:
312:
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The clinical subtypes Usher I and II are associated with mutations in any one of six (
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1339:
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1101:
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The simplest approach to diagnosing Usher syndrome is to test for the characteristic
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468:
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124:
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1447:
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2960:
2901:
1701:"Usher syndrome in the city of Birmingham — prevalence and clinical classification"
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843:
799:
754:
712:
324:
258:
Usher syndrome type II may be caused by mutations in any of three different genes:
116:
2708:
The Madness of Usher's: Coping With Vision and Hearing Loss/Usher Syndrome Type II
2498:
Usher C (1914). "On the inheritance of Retinitis pigmentosa with notes of cases".
1870:
1854:
1321:
2815:
2157:
1306:
Christian Markovic, and blind-deaf illustrator and designer; Fuzzy Wuzzy Designs.
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wrote her autobiography of growing up with Usher syndrome in Louisiana, entitled
937:
was incorrectly determined and does not exist. Research in this area is ongoing.
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Thirteen other syndromes may exhibit signs similar to Usher syndrome, including
979:
976:
220:
2826:
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Gorlin R, Tilsner T, Feinstein S, Duvall AJ (1979). "Usher syndrome type III".
1914:
1619:
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3115:
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3100:
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1804:
1669:
1181:
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1050:
1007:
896:. A mutation in any one of these genes is likely to result in Usher syndrome.
815:
514:
348:
17:
2027:
1295:
Vendon Wright has written two books describing his life with Usher syndrome,
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2018:
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1034:
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356:
332:
216:
132:
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2045:
1978:
1922:
1862:
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1627:
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10.1002/(SICI)1096-8628(19990924)89:3<158::AID-AJMG6>3.0.CO;2-#
1439:
1401:
2484:
2449:
2406:"Out of the Silence: Gene Therapy Tackles a Common Birth Defect: Deafness"
2371:
2339:
2121:
2083:
1734:
1531:
1485:
998:
usually start to degenerate from the outer periphery to the center of the
3966:
3382:
2968:
2856:
2656:
2555:
2331:
2304:
2268:
866:
824:
780:
735:
693:
649:
635:
569:
555:
523:
509:
477:
340:
227:. Mutations that affect the normal function of these genes can result in
1894:
Reiners, J; Nagel-Wolfrum, K; Jürgens, K; Märker, T; Wolfrum, U (2006).
1716:
1033:
inhibiting electrical impulses from reaching the brain. It is a form of
4089:
4006:
3986:
3882:
3473:
3248:
3156:
2945:
2933:
1523:
1177:
1026:
239:
163:, who examined the pathology and transmission of the syndrome in 1914.
155:
populations, and type III is rarely found outside Ashkenazi Jewish and
152:
2776:
2681:
1157:
have shown one form of the disease—that associated with a mutation in
1010:); peripheral vision is gradually lost, restricting the visual field (
884:
pattern. Several genes have been associated with Usher syndrome using
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3711:
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1158:
1003:
999:
960:
806:
629:
462:
360:
344:
270:
201:
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People with Usher I are born profoundly deaf and begin to lose their
136:
62:
pattern. The genes implicated in Usher syndrome are described below.
1165:. However, some of the mutated genes associated with Usher syndrome
307:
The frequency of Usher syndrome type III is significant only in the
159:
populations. Usher syndrome is named after Scottish ophthalmologist
1960:
1014:), which generally progresses to complete blindness. The qualifier
959:
A study shows that three proteins related to Usher syndrome genes (
3680:
3676:
3672:
3428:
3306:
1137:
pattern, both males and females are equally likely to inherit it.
968:
964:
925:
915:
908:
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850:
761:
719:
675:
549:
503:
456:
308:
295:
264:
260:
211:
205:
197:
193:
2837:
4126:
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1006:. The degeneration is usually first noticed as night blindness (
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830:
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771:
741:
699:
655:
609:
575:
529:
483:
436:
112:
3252:
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and learn to walk slowly as children, due to problems in their
1018:
reflects the fact that clumps of pigment may be visible by an
2279:(volume 426 ed.). Amsterdam: Excerpta Medica Foundation.
215:. These genes function in the development and maintenance of
1161:
VIIa—can be alleviated by replacing the mutant gene using a
3858:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
1212:
Usher syndrome is named after the Scottish ophthalmologist
2727:
Usher's Syndrome: What It Is, How to Cope, and How to Help
1604:"Hearing Loss in Usher Syndrome Type II is Nonprogressive"
238:
ancestry (central and eastern European) and in the French-
4132:
Microcephalic osteodysplastic primordial dwarfism type II
990:
The progressive blindness of Usher syndrome results from
250:
People with Usher II are not born deaf and are generally
1126:
The function of these genes is still poorly understood.
919:, has been linked to Usher III so far. Two other genes,
339:(RP), a degeneration of the retinal cells. Usually, the
2881:
GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type II
1556:
Keats, Bronya J.B.; Corey, David P. (25 October 2002).
2876:
GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type I
1602:
Reisser, CFV; Kimberling, WJ; Otterstedde, CR (2002).
1271:, and recipient of the Helen Keller Achievement Award.
1149:
Since Usher syndrome results from the loss of a gene,
347:
are affected first, leading to early night blindness (
4094:
Epidermolysis bullosa simplex with muscular dystrophy
1380:
Transactions of the American Ophthalmological Society
929:, were initially associated with Usher syndrome, but
2766:
2247:
Merin S, Auerbach E (1976). "Retinitis pigmentosa".
4061:
4005:
3957:
3932:
3904:
3881:
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3751:
3704:
3517:
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3140:
3088:
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2989:
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2944:
2847:
2770:
2205:(2nd ed.). London: Cambridge University Press.
66:
40:
35:
3494:Terminal osseous dysplasia with pigmentary defects
1192:Usher syndrome is responsible for the majority of
2748:. Foundation Fighting Blindness. ASIN B00071QLJ6.
2575:Orchid of the Bayou: A Deaf Woman Faces Blindness
1196:. It occurs in roughly 1 in 23,000 people in the
2135:
2133:
2131:
1699:Hope CI, Bundey S, Proops D, Fielder AR (1997).
27:Recessive genetic disorder causing deafblindness
1998:Proceedings of the National Academy of Sciences
1836:"Usher syndrome: from genetics to pathogenesis"
1376:"Early diagnosis of Usher syndrome in children"
299:, have been linked to Usher syndrome type III.
180:in the first decade of life. They also exhibit
111:caused by a mutation in any one of at least 11
3627:Meesmann juvenile epithelial corneal dystrophy
3577:Meesmann juvenile epithelial corneal dystrophy
2095:
2093:
1608:Annals of Otology, Rhinology & Laryngology
1232:. He reported the case of a deaf patient with
913:) genes, respectively, whereas only one gene,
3264:
2917:
2057:
2055:
1243:Animal models of this human disease (such as
8:
4115:Arrhythmogenic right ventricular dysplasia 9
4083:Arrhythmogenic right ventricular dysplasia 8
1843:Annual Review of Genomics and Human Genetics
1551:
1549:
1374:Mets MB, Young NM, Pass A, Lasky JB (2000).
871:
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355:. In other cases, early degeneration of the
331:. The hearing loss is caused by a defective
3696:Reticular pigmented anomaly of the flexures
1369:
1367:
1365:
3878:
3514:
3302:
3293:
3271:
3257:
3249:
3146:
2993:
2950:
2924:
2910:
2902:
2767:
1889:
1887:
375:exists around the central region in which
77:
49:
32:
2380:
2370:
2165:
2035:
2017:
1968:
1773:
1724:
1391:
3691:Naegeli–Franceschetti–Jadassohn syndrome
2203:Retinitis Pigmentosa and Allied Diseases
1133:Since Usher syndrome is inherited in an
4181:Diseases of the ear and mastoid process
1361:
388:Table 1: Genes linked to Usher syndrome
335:, whereas the vision loss results from
101:retinitis pigmentosa–dysacusis syndrome
1169:very large proteins—most notably, the
1078:spondyloepiphyseal dysplasia congenita
1053:mutations. An alternative approach is
139:. These mutations are inherited in an
4099:Epidermolysis bullosa simplex of Ogna
3368:DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
105:dystrophia retinae dysacusis syndrome
7:
3716:Desmin-related myofibrillar myopathy
3353:Hypertrophic cardiomyopathy 1, 8, 10
3191:Benign paroxysmal positional vertigo
2404:Dina Fine Maron (December 4, 2018).
2297:10.1001/archotol.1979.00790180051011
2114:10.1001/archopht.1983.01040020369005
2064:American Journal of Medical Genetics
1562:American Journal of Medical Genetics
1505:
1503:
1459:
1457:
1413:
1411:
1108:(phytanic acid storage disease) and
1022:in advanced stages of degeneration.
3808:Emery–Dreifuss muscular dystrophy 2
2710:. Business of Living Publications.
2277:The Heterogeneity of Usher Syndrome
1330:, a gold medal-winning paralympian.
323:Usher syndrome is characterized by
4073:Striate palmoplantar keratoderma 2
3768:Charcot–Marie–Tooth disease 1F, 2E
3546:Striate palmoplantar keratoderma 3
2757:. Pergamon Press. ASIN B0007JHOJ4.
2225:10.1111/j.1600-0447.1959.tb08605.x
1949:American Journal of Human Genetics
1945:"USH1A: chronicle of a slow death"
1658:International Journal of Audiology
1478:10.1111/j.1399-0004.1987.tb02804.x
888:of patient families (Table 1) and
880:Usher syndrome is inherited in an
58:Usher syndrome is inherited in an
25:
3924:Asphyxiating thoracic dysplasia 3
3813:Limb-girdle muscular dystrophy 1B
1141:of the parents is a risk factor.
123:. It is the most common cause of
4201:Diseases named after discoverers
3919:Short rib-polydactyly syndrome 3
3896:Hereditary spastic paraplegia 10
3391:Hypertrophic cardiomyopathy 7, 2
2500:Roy. Lond. Ophthalmol. Hosp. Rep
1705:British Journal of Ophthalmology
1432:10.1097/00005537-200101000-00014
3818:Charcot–Marie–Tooth disease 2B1
1112:(cerebrohepatorenal syndrome).
835:
791:
746:
704:
660:
614:
580:
534:
488:
441:
410:
219:structures such as hair cells (
4027:Familial adenomatous polyposis
3981:Hereditary elliptocytosis 2, 3
3891:Charcot–Marie–Tooth disease 2A
3803:Familial partial lipodystrophy
3315:Hypertrophic cardiomyopathy 11
2725:Duncan E, Prickett HT (1988).
2577:. Gallaudet University Press.
2573:Carroll C, Fischer CH (2001).
386:
115:resulting in a combination of
1:
4166:Autosomal recessive disorders
3976:Hereditary spherocytosis 2, 3
3945:Cavernous venous malformation
3773:Amyotrophic lateral sclerosis
3743:Amyotrophic lateral sclerosis
3647:Epidermolysis bullosa simplex
3597:Epidermolysis bullosa simplex
3567:Ichthyosis bullosa of Siemens
3437:Hypertrophic cardiomyopathy 9
3414:Hypertrophic cardiomyopathy 3
2891:General overview from the NIH
2886:NCBI Genetic Testing Registry
2706:Stiefel SH, Lewis RA (1991).
2678:"Nalagaat Center | Home"
2600:I Was Blind but Now I Can See
2275:Davenport S, Omenn G (1977).
2261:10.1016/S0039-6257(96)90001-6
1855:10.1146/annurev.genom.2.1.271
1309:John Tracy, the son of actor
1297:I Was Blind but Now I Can See
1280:Gallaudet United Now Movement
363:occurs, leading to a loss of
311:as well as the population of
127:and is at present incurable.
3617:Epidermolytic hyperkeratosis
3551:Epidermolytic hyperkeratosis
3071:Auditory processing disorder
2477:10.1016/0021-9681(83)90147-9
2442:10.1016/0021-9681(69)90055-1
2158:10.1016/j.visres.2007.08.015
1313:and namesake of the oralist
1104:(Albers–Schonberg disease),
293:Mutations in only one gene,
274:. The protein encoded by the
225:retinal pigmented epithelium
4191:Syndromes affecting the eye
4186:Syndromes affecting hearing
3838:Buschke–Ollendorff syndrome
2465:Journal of Chronic Diseases
2430:Journal of Chronic Diseases
1512:International Ophthalmology
1046:can have bad consequences.
231:and resultant vision loss.
4217:
3997:Hereditary spherocytosis 1
3914:Primary ciliary dyskinesia
3320:Dilated cardiomyopathy 1AA
3021:Sensorineural hearing loss
2212:Acta Psychiatr Scand Suppl
1915:10.1016/j.exer.2005.11.010
1620:10.1177/000348940211101208
1180:, which have roughly 6000
351:) and the gradual loss of
4141:
3828:Barraquer–Simons syndrome
3721:Dilated cardiomyopathy 1I
3467:Weill–Marchesani syndrome
3014:Superior canal dehiscence
2519:Archiv fĂĽr Ophthalmologie
2102:Archives of Ophthalmology
1903:Experimental Eye Research
1805:10.1007/s00439-004-1227-2
1670:10.1080/14992020400050019
1278:, and participant in the
933:has not been verified and
57:
48:
3971:Spinocerebellar ataxia 5
3795:Mandibuloacral dysplasia
3363:Freeman–Sheldon syndrome
4110:Skin fragility syndrome
4052:Giant axonal neuropathy
3657:Steatocystoma multiplex
3234:Vestibulo–ocular reflex
3004:Conductive hearing loss
2076:10.1002/ajmg.1320500107
2019:10.1073/pnas.1703408114
1766:10.1136/jmg.2006.041954
971:) are also involved in
97:Usher–Hallgren syndrome
44:Usher–Hallgren syndrome
3396:Nemaline myopathy 4, 5
1228:, a pioneer of modern
728:Transmembrane linkage
4171:Ashkenazi Jews topics
4146:Cytoskeletal proteins
3038:Nonsyndromic deafness
2729:. Charles C. Thomas.
2372:10.1038/sj.gt.3302897
1558:"The Usher syndromes"
1276:University of Vermont
1094:Kearns–Sayre syndrome
1070:Bardet–Biedl syndrome
367:. In some cases, the
4176:Cytoskeletal defects
3201:Labyrinthine fistula
3126:visual reinforcement
3076:Spatial hearing loss
2140:Williams DS (2007).
1334:Teigan Van Roosmalen
1234:retinitis pigmentosa
1202:retinitis pigmentosa
992:retinitis pigmentosa
337:retinitis pigmentosa
229:retinitis pigmentosa
182:balance difficulties
3853:Pelger–Huet anomaly
3763:Parkinson's disease
3484:Boomerang dysplasia
3419:Nemaline myopathy 1
3373:May–Hegglin anomaly
3330:Nemaline myopathy 3
2965:Excessive response
2627:. Pipers' Ash Ltd.
2556:"Tactile The World"
2414:Scientific American
2010:2017PNAS..114.7765L
1717:10.1136/bjo.81.1.46
1290:Orchid of the Bayou
1216:, who examined the
1135:autosomal recessive
1121:researchers at the
1082:Flynn–Aird syndrome
1055:electroretinography
996:photoreceptor cells
950:signal transduction
882:autosomal recessive
408:
141:autosomal recessive
60:autosomal recessive
4022:Gardner's syndrome
3991:Long QT syndrome 4
3667:Familial cirrhosis
3637:White sponge nevus
3607:Familial cirrhosis
3587:White sponge nevus
2848:External resources
2653:Fuzzy Wuzzy Design
2332:10.1093/hmg/4.1.93
1524:10.1007/BF00130927
1342:, Catholic priest.
1226:Albrecht von Gräfe
1123:University of Iowa
1110:Zellweger syndrome
956:of sensory cells.
892:of the identified
816:PDZ-domain protein
515:PDZ-domain protein
387:
377:vision is impaired
319:Symptoms and signs
309:Finnish population
286:Usher syndrome III
4153:
4152:
4078:Carvajal syndrome
3953:
3952:
3868:
3867:
3732:Alexander disease
3504:
3503:
3445:
3444:
3358:Usher syndrome 1B
3348:Elejalde syndrome
3246:
3245:
3242:
3241:
3219:Dix–Hallpike test
3186:Ménière's disease
3136:
3135:
3084:
3083:
3031:Cortical deafness
2871:
2870:
2753:Vernon M (1969).
2744:Vernon M (1986).
2736:978-0-398-05481-6
2717:978-1-879518-06-3
2634:978-1-904494-86-7
2623:Wright V (2007).
2609:978-1-4208-9101-0
2598:Wright V (2007).
2584:978-1-56368-104-2
2560:Tactile The World
2417:. pp. 72–79.
2285:Arch. Otolaryngol
2004:(30): 7765–7774.
1834:Petit, C (2001).
1614:(12): 1108–1111.
1315:John Tracy Clinic
1286:Catherine Fischer
1261:Rebecca Alexander
1238:Richard Liebreich
1086:Friedreich ataxia
1074:Cockayne syndrome
942:protein complexes
878:
877:
859:Synaptic shaping
418:Gene locus
353:peripheral vision
329:visual impairment
246:Usher syndrome II
186:vestibular system
121:visual impairment
93:Hallgren syndrome
86:
85:
30:Medical condition
16:(Redirected from
4208:
4144:Related topics:
3879:
3515:
3303:
3294:
3273:
3266:
3259:
3250:
3224:Unterberger test
3178:Balance disorder
3147:
3059:Wolfram syndrome
2994:
2951:
2926:
2919:
2912:
2903:
2768:
2758:
2749:
2740:
2721:
2693:
2692:
2690:
2689:
2680:. Archived from
2674:
2668:
2667:
2665:
2664:
2655:. Archived from
2645:
2639:
2638:
2620:
2614:
2613:
2595:
2589:
2588:
2570:
2564:
2563:
2552:
2546:
2545:
2533:
2527:
2526:
2514:
2508:
2507:
2495:
2489:
2488:
2460:
2454:
2453:
2425:
2419:
2418:
2410:
2401:
2395:
2394:
2384:
2374:
2350:
2344:
2343:
2315:
2309:
2308:
2280:
2272:
2249:Surv. Ophthalmol
2244:
2206:
2198:
2186:
2180:
2179:
2169:
2137:
2126:
2125:
2108:(9): 1367–1374.
2097:
2088:
2087:
2059:
2050:
2049:
2039:
2021:
1989:
1983:
1982:
1972:
1940:
1934:
1933:
1931:
1925:. Archived from
1900:
1891:
1882:
1881:
1879:
1873:. Archived from
1840:
1831:
1825:
1824:
1787:
1777:
1745:
1739:
1738:
1728:
1696:
1690:
1689:
1653:
1647:
1646:
1644:
1642:
1599:
1593:
1592:
1590:
1588:
1553:
1544:
1543:
1507:
1498:
1497:
1461:
1452:
1451:
1415:
1406:
1405:
1395:
1371:
1066:Alström syndrome
1002:, including the
886:linkage analysis
869:
827:
783:
738:
696:
685:Scaffold protein
652:
636:Protocadherin 15
572:
526:
480:
430:Size (AA)
409:
407:
405:
401:
399:
395:
393:
236:Ashkenazi Jewish
172:Usher syndrome I
149:Ashkenazi Jewish
109:genetic disorder
91:, also known as
82:
81:
53:
33:
21:
4216:
4215:
4211:
4210:
4209:
4207:
4206:
4205:
4156:
4155:
4154:
4149:
4137:
4057:
4001:
3949:
3928:
3900:
3864:
3843:Osteopoikilosis
3777:
3747:
3700:
3500:
3489:Larsen syndrome
3462:Marfan syndrome
3441:
3423:
3400:
3377:
3334:
3283:
3277:
3247:
3238:
3207:
3166:
3132:
3106:Tone decay test
3080:
3042:
2985:
2940:
2930:
2872:
2867:
2866:
2843:
2842:
2779:
2765:
2752:
2743:
2737:
2724:
2718:
2705:
2702:
2700:Further reading
2697:
2696:
2687:
2685:
2676:
2675:
2671:
2662:
2660:
2647:
2646:
2642:
2635:
2625:Through My Eyes
2622:
2621:
2617:
2610:
2602:. Authorhouse.
2597:
2596:
2592:
2585:
2572:
2571:
2567:
2554:
2553:
2549:
2535:
2534:
2530:
2516:
2515:
2511:
2497:
2496:
2492:
2462:
2461:
2457:
2427:
2426:
2422:
2408:
2403:
2402:
2398:
2352:
2351:
2347:
2320:Hum. Mol. Genet
2317:
2316:
2312:
2282:
2281:
2274:
2273:
2246:
2245:
2208:
2207:
2201:Bell J (1933).
2200:
2199:
2188:
2187:
2183:
2146:Vision Research
2139:
2138:
2129:
2099:
2098:
2091:
2061:
2060:
2053:
1991:
1990:
1986:
1942:
1941:
1937:
1929:
1898:
1893:
1892:
1885:
1877:
1838:
1833:
1832:
1828:
1789:
1788:
1747:
1746:
1742:
1698:
1697:
1693:
1655:
1654:
1650:
1640:
1638:
1601:
1600:
1596:
1586:
1584:
1555:
1554:
1547:
1509:
1508:
1501:
1463:
1462:
1455:
1417:
1416:
1409:
1373:
1372:
1363:
1358:
1348:Feeling Through
1336:, paraolympian.
1301:Through My Eyes
1265:psychotherapist
1257:
1210:
1190:
1147:
1118:
1098:Norrie syndrome
1090:Hurler syndrome
1062:Alport syndrome
1043:
988:
986:Pathophysiology
973:auditory cortex
865:
823:
779:
734:
692:
648:
568:
522:
476:
427:Function
403:
402:
397:
396:
391:
390:
389:
385:
321:
288:
252:hard-of-hearing
248:
174:
169:
76:
31:
28:
23:
22:
15:
12:
11:
5:
4214:
4212:
4204:
4203:
4198:
4196:Rare syndromes
4193:
4188:
4183:
4178:
4173:
4168:
4158:
4157:
4151:
4150:
4142:
4139:
4138:
4136:
4135:
4118:
4117:
4112:
4102:
4101:
4096:
4086:
4085:
4080:
4075:
4065:
4063:
4059:
4058:
4056:
4055:
4043:
4040:Naxos syndrome
4031:
4030:
4029:
4024:
4011:
4009:
4003:
4002:
4000:
3999:
3984:
3983:
3978:
3973:
3963:
3961:
3955:
3954:
3951:
3950:
3948:
3947:
3942:
3936:
3934:
3930:
3929:
3927:
3926:
3921:
3916:
3910:
3908:
3902:
3901:
3899:
3898:
3893:
3887:
3885:
3876:
3870:
3869:
3866:
3865:
3863:
3862:
3861:
3860:
3855:
3847:
3846:
3845:
3840:
3832:
3831:
3830:
3822:
3821:
3820:
3815:
3810:
3805:
3797:
3785:
3783:
3779:
3778:
3776:
3775:
3770:
3765:
3755:
3753:
3749:
3748:
3746:
3745:
3735:
3734:
3724:
3723:
3718:
3708:
3706:
3702:
3701:
3699:
3698:
3693:
3688:
3670:
3660:
3650:
3640:
3630:
3620:
3610:
3600:
3590:
3580:
3570:
3560:
3559:
3558:
3553:
3548:
3537:hyperkeratosis
3521:
3519:
3512:
3506:
3505:
3502:
3501:
3499:
3498:
3497:
3496:
3491:
3486:
3481:
3471:
3470:
3469:
3464:
3453:
3451:
3447:
3446:
3443:
3442:
3440:
3439:
3433:
3431:
3425:
3424:
3422:
3421:
3416:
3410:
3408:
3402:
3401:
3399:
3398:
3393:
3387:
3385:
3379:
3378:
3376:
3375:
3370:
3365:
3360:
3355:
3350:
3344:
3342:
3336:
3335:
3333:
3332:
3327:
3322:
3317:
3311:
3309:
3300:
3291:
3289:Microfilaments
3285:
3284:
3278:
3276:
3275:
3268:
3261:
3253:
3244:
3243:
3240:
3239:
3237:
3236:
3231:
3229:Romberg's test
3226:
3221:
3215:
3213:
3209:
3208:
3206:
3205:
3204:
3203:
3198:
3193:
3188:
3180:
3174:
3172:
3168:
3167:
3165:
3164:
3159:
3153:
3151:
3144:
3138:
3137:
3134:
3133:
3131:
3130:
3129:
3128:
3123:
3113:
3108:
3103:
3098:
3092:
3090:
3086:
3085:
3082:
3081:
3079:
3078:
3073:
3068:
3067:
3066:
3064:Usher syndrome
3061:
3050:
3048:
3044:
3043:
3041:
3040:
3035:
3034:
3033:
3028:
3018:
3017:
3016:
3011:
3000:
2998:
2991:
2987:
2986:
2984:
2983:
2982:
2981:
2976:
2971:
2963:
2957:
2955:
2948:
2942:
2941:
2931:
2929:
2928:
2921:
2914:
2906:
2900:
2899:
2896:Usher Syndrome
2893:
2888:
2883:
2878:
2869:
2868:
2865:
2864:
2852:
2851:
2849:
2845:
2844:
2841:
2840:
2829:
2818:
2807:
2793:
2780:
2775:
2774:
2772:
2771:Classification
2764:
2763:External links
2761:
2760:
2759:
2750:
2741:
2735:
2722:
2716:
2701:
2698:
2695:
2694:
2669:
2640:
2633:
2615:
2608:
2590:
2583:
2565:
2547:
2528:
2509:
2490:
2471:(8): 595–603.
2455:
2436:(3): 133–151.
2420:
2396:
2365:(7): 584–594.
2345:
2310:
2291:(6): 353–354.
2255:(5): 303–345.
2219:(138): 9–101.
2181:
2127:
2089:
2051:
1984:
1961:10.1086/500275
1935:
1932:on 2019-05-03.
1883:
1880:on 2019-05-03.
1826:
1799:(4): 292–299.
1760:(9): 763–768.
1740:
1691:
1664:(3): 136–143.
1648:
1594:
1568:(3): 158–166.
1545:
1518:(5): 307–311.
1499:
1472:(4): 255–264.
1453:
1407:
1360:
1359:
1357:
1354:
1353:
1352:
1343:
1337:
1331:
1325:
1318:
1307:
1304:
1293:
1283:
1272:
1256:
1253:
1209:
1206:
1189:
1186:
1146:
1143:
1117:
1116:Classification
1114:
1106:Refsum disease
1042:
1039:
1020:ophthalmoscope
987:
984:
890:DNA sequencing
876:
875:
870:
863:
860:
857:
854:
847:
841:
838:
834:
833:
828:
821:
818:
813:
810:
803:
797:
794:
790:
789:
784:
777:
774:
768:
765:
758:
752:
749:
745:
744:
739:
732:
729:
726:
723:
716:
710:
707:
703:
702:
697:
690:
687:
682:
679:
672:
666:
663:
659:
658:
653:
646:
643:
638:
633:
626:
620:
617:
613:
612:
607:
604:
601:
598:
595:
592:
586:
583:
579:
578:
573:
566:
563:
558:
553:
546:
540:
537:
533:
532:
527:
520:
517:
512:
507:
500:
494:
491:
487:
486:
481:
474:
471:
466:
460:
453:
447:
444:
440:
439:
434:
431:
428:
425:
424:Protein
422:
419:
416:
413:
406: Type III
384:
381:
365:central acuity
327:and a gradual
320:
317:
313:Birmingham, UK
287:
284:
247:
244:
173:
170:
168:
165:
89:Usher syndrome
84:
83:
70:
64:
63:
55:
54:
46:
45:
42:
38:
37:
36:Usher syndrome
29:
26:
24:
18:Usher Syndrome
14:
13:
10:
9:
6:
4:
3:
2:
4213:
4202:
4199:
4197:
4194:
4192:
4189:
4187:
4184:
4182:
4179:
4177:
4174:
4172:
4169:
4167:
4164:
4163:
4161:
4148:
4147:
4140:
4133:
4129:
4128:
4123:
4120:
4119:
4116:
4113:
4111:
4107:
4104:
4103:
4100:
4097:
4095:
4091:
4088:
4087:
4084:
4081:
4079:
4076:
4074:
4070:
4067:
4066:
4064:
4060:
4053:
4049:
4048:
4044:
4041:
4037:
4036:
4032:
4028:
4025:
4023:
4020:
4019:
4018:
4017:
4013:
4012:
4010:
4008:
4004:
3998:
3995:
3994:
3993:
3992:
3988:
3982:
3979:
3977:
3974:
3972:
3968:
3965:
3964:
3962:
3960:
3956:
3946:
3943:
3941:
3938:
3937:
3935:
3931:
3925:
3922:
3920:
3917:
3915:
3912:
3911:
3909:
3907:
3903:
3897:
3894:
3892:
3889:
3888:
3886:
3884:
3880:
3877:
3875:
3871:
3859:
3856:
3854:
3851:
3850:
3848:
3844:
3841:
3839:
3836:
3835:
3833:
3829:
3826:
3825:
3823:
3819:
3816:
3814:
3811:
3809:
3806:
3804:
3801:
3798:
3796:
3793:
3792:
3790:
3787:
3786:
3784:
3780:
3774:
3771:
3769:
3766:
3764:
3760:
3759:Neurofilament
3757:
3756:
3754:
3750:
3744:
3740:
3737:
3736:
3733:
3729:
3726:
3725:
3722:
3719:
3717:
3713:
3710:
3709:
3707:
3703:
3697:
3694:
3692:
3689:
3686:
3682:
3678:
3674:
3671:
3668:
3664:
3661:
3658:
3654:
3651:
3648:
3644:
3641:
3638:
3634:
3631:
3628:
3624:
3621:
3618:
3614:
3611:
3608:
3604:
3601:
3598:
3594:
3591:
3588:
3584:
3581:
3578:
3574:
3571:
3568:
3564:
3561:
3557:
3554:
3552:
3549:
3547:
3544:
3543:
3542:
3538:
3534:
3530:
3526:
3525:Keratinopathy
3523:
3522:
3520:
3516:
3513:
3511:
3507:
3495:
3492:
3490:
3487:
3485:
3482:
3480:
3479:FG syndrome 2
3477:
3476:
3475:
3472:
3468:
3465:
3463:
3460:
3459:
3458:
3455:
3454:
3452:
3448:
3438:
3435:
3434:
3432:
3430:
3426:
3420:
3417:
3415:
3412:
3411:
3409:
3407:
3403:
3397:
3394:
3392:
3389:
3388:
3386:
3384:
3380:
3374:
3371:
3369:
3366:
3364:
3361:
3359:
3356:
3354:
3351:
3349:
3346:
3345:
3343:
3341:
3337:
3331:
3328:
3326:
3323:
3321:
3318:
3316:
3313:
3312:
3310:
3308:
3304:
3301:
3299:
3295:
3292:
3290:
3286:
3281:
3274:
3269:
3267:
3262:
3260:
3255:
3254:
3251:
3235:
3232:
3230:
3227:
3225:
3222:
3220:
3217:
3216:
3214:
3210:
3202:
3199:
3197:
3196:Labyrinthitis
3194:
3192:
3189:
3187:
3184:
3183:
3181:
3179:
3176:
3175:
3173:
3169:
3163:
3160:
3158:
3155:
3154:
3152:
3148:
3145:
3143:
3139:
3127:
3124:
3122:
3119:
3118:
3117:
3114:
3112:
3109:
3107:
3104:
3102:
3099:
3097:
3094:
3093:
3091:
3087:
3077:
3074:
3072:
3069:
3065:
3062:
3060:
3057:
3056:
3055:
3054:Deafblindness
3052:
3051:
3049:
3045:
3039:
3036:
3032:
3029:
3027:
3024:
3023:
3022:
3019:
3015:
3012:
3010:
3007:
3006:
3005:
3002:
3001:
2999:
2995:
2992:
2988:
2980:
2977:
2975:
2972:
2970:
2967:
2966:
2964:
2962:
2959:
2958:
2956:
2952:
2949:
2947:
2943:
2939:
2935:
2932:Disorders of
2927:
2922:
2920:
2915:
2913:
2908:
2907:
2904:
2897:
2894:
2892:
2889:
2887:
2884:
2882:
2879:
2877:
2874:
2873:
2863:
2859:
2858:
2854:
2853:
2850:
2846:
2839:
2835:
2834:
2830:
2828:
2824:
2823:
2819:
2817:
2813:
2812:
2808:
2806:
2803:
2799:
2798:
2794:
2791:
2790:
2786:
2782:
2781:
2778:
2773:
2769:
2762:
2756:
2751:
2747:
2742:
2738:
2732:
2728:
2723:
2719:
2713:
2709:
2704:
2703:
2699:
2684:on 2010-11-24
2683:
2679:
2673:
2670:
2659:on 2021-06-29
2658:
2654:
2650:
2649:"Who's Fuzzy"
2644:
2641:
2636:
2630:
2626:
2619:
2616:
2611:
2605:
2601:
2594:
2591:
2586:
2580:
2576:
2569:
2566:
2561:
2557:
2551:
2548:
2543:
2539:
2532:
2529:
2524:
2520:
2513:
2510:
2505:
2501:
2494:
2491:
2486:
2482:
2478:
2474:
2470:
2466:
2459:
2456:
2451:
2447:
2443:
2439:
2435:
2431:
2424:
2421:
2416:
2415:
2407:
2400:
2397:
2392:
2388:
2383:
2378:
2373:
2368:
2364:
2360:
2356:
2349:
2346:
2341:
2337:
2333:
2329:
2325:
2321:
2314:
2311:
2306:
2302:
2298:
2294:
2290:
2286:
2278:
2270:
2266:
2262:
2258:
2254:
2250:
2242:
2238:
2234:
2230:
2226:
2222:
2218:
2214:
2213:
2204:
2196:
2192:
2191:Z. Ohrenheilk
2185:
2182:
2177:
2173:
2168:
2163:
2159:
2155:
2152:(3): 433–41.
2151:
2147:
2143:
2136:
2134:
2132:
2128:
2123:
2119:
2115:
2111:
2107:
2103:
2096:
2094:
2090:
2085:
2081:
2077:
2073:
2069:
2065:
2058:
2056:
2052:
2047:
2043:
2038:
2033:
2029:
2025:
2020:
2015:
2011:
2007:
2003:
1999:
1995:
1988:
1985:
1980:
1976:
1971:
1966:
1962:
1958:
1954:
1950:
1946:
1939:
1936:
1928:
1924:
1920:
1916:
1912:
1909:(1): 97–119.
1908:
1904:
1897:
1890:
1888:
1884:
1876:
1872:
1868:
1864:
1860:
1856:
1852:
1848:
1844:
1837:
1830:
1827:
1822:
1818:
1814:
1810:
1806:
1802:
1798:
1794:
1785:
1781:
1776:
1771:
1767:
1763:
1759:
1755:
1751:
1744:
1741:
1736:
1732:
1727:
1722:
1718:
1714:
1710:
1706:
1702:
1695:
1692:
1687:
1683:
1679:
1675:
1671:
1667:
1663:
1659:
1652:
1649:
1637:
1633:
1629:
1625:
1621:
1617:
1613:
1609:
1605:
1598:
1595:
1583:
1579:
1575:
1571:
1567:
1563:
1559:
1552:
1550:
1546:
1541:
1537:
1533:
1529:
1525:
1521:
1517:
1513:
1506:
1504:
1500:
1495:
1491:
1487:
1483:
1479:
1475:
1471:
1467:
1460:
1458:
1454:
1449:
1445:
1441:
1437:
1433:
1429:
1425:
1421:
1414:
1412:
1408:
1403:
1399:
1394:
1389:
1385:
1381:
1377:
1370:
1368:
1366:
1362:
1355:
1350:
1349:
1344:
1341:
1340:Cyril Axelrod
1338:
1335:
1332:
1329:
1326:
1323:
1319:
1316:
1312:
1311:Spencer Tracy
1308:
1305:
1302:
1298:
1294:
1291:
1287:
1284:
1281:
1277:
1273:
1270:
1266:
1262:
1259:
1258:
1255:Notable cases
1254:
1252:
1250:
1246:
1245:knockout mice
1241:
1239:
1235:
1231:
1230:ophthalmology
1227:
1223:
1219:
1215:
1214:Charles Usher
1207:
1205:
1203:
1199:
1198:United States
1195:
1194:deafblindness
1187:
1185:
1183:
1179:
1176:
1172:
1168:
1164:
1160:
1156:
1152:
1144:
1142:
1140:
1139:Consanguinity
1136:
1131:
1127:
1124:
1115:
1113:
1111:
1107:
1103:
1102:osteopetrosis
1099:
1095:
1091:
1087:
1083:
1079:
1075:
1071:
1067:
1063:
1058:
1056:
1052:
1047:
1040:
1038:
1036:
1032:
1028:
1023:
1021:
1017:
1013:
1012:tunnel vision
1009:
1005:
1001:
997:
993:
985:
983:
981:
978:
974:
970:
966:
962:
957:
955:
954:cell adhesion
951:
947:
943:
938:
936:
932:
928:
927:
922:
918:
917:
912:
910:
906:) and three (
905:
903:
897:
895:
891:
887:
883:
874:
868:
853:
852:
845:
842:
832:
826:
817:
809:
808:
801:
798:
788:
782:
773:
764:
763:
756:
753:
743:
737:
722:
721:
714:
711:
701:
695:
686:
678:
677:
670:
667:
657:
651:
642:
641:Cell adhesion
637:
632:
631:
624:
611:
590:
587:
577:
571:
562:
561:Cell adhesion
557:
552:
551:
544:
541:
531:
525:
516:
511:
506:
505:
498:
495:
485:
479:
470:
469:Motor protein
464:
459:
458:
451:
448:
438:
435:
432:
429:
426:
423:
420:
417:
414:
411:
400: Type II
382:
380:
378:
374:
370:
366:
362:
358:
354:
350:
346:
342:
338:
334:
330:
326:
318:
316:
314:
310:
305:
302:
298:
297:
291:
285:
283:
280:
277:
273:
272:
267:
266:
262:
256:
253:
245:
243:
241:
237:
232:
230:
226:
222:
218:
214:
213:
208:
207:
203:
199:
195:
189:
187:
183:
179:
171:
166:
164:
162:
161:Charles Usher
158:
154:
150:
144:
142:
138:
134:
128:
126:
125:deafblindness
122:
118:
114:
110:
106:
102:
98:
94:
90:
80:
74:
73:Ophthalmology
71:
69:
65:
61:
56:
52:
47:
43:
39:
34:
19:
4143:
4125:
4045:
4033:
4014:
3985:
3874:Microtubules
3357:
3280:Cytoskeletal
3096:Hearing test
3063:
3009:Otosclerosis
2961:Hearing loss
2855:
2831:
2820:
2809:
2795:
2783:
2754:
2745:
2726:
2707:
2686:. Retrieved
2682:the original
2672:
2661:. Retrieved
2657:the original
2652:
2643:
2624:
2618:
2599:
2593:
2574:
2568:
2559:
2550:
2541:
2537:
2531:
2522:
2518:
2512:
2503:
2499:
2493:
2468:
2464:
2458:
2433:
2429:
2423:
2412:
2399:
2362:
2359:Gene Therapy
2358:
2348:
2326:(1): 93–98.
2323:
2319:
2313:
2288:
2284:
2276:
2252:
2248:
2216:
2210:
2202:
2194:
2190:
2184:
2149:
2145:
2105:
2101:
2070:(1): 32–38.
2067:
2063:
2001:
1997:
1987:
1955:(2): 357–9.
1952:
1948:
1938:
1927:the original
1906:
1902:
1875:the original
1846:
1842:
1829:
1796:
1792:
1757:
1753:
1743:
1711:(1): 46–53.
1708:
1704:
1694:
1661:
1657:
1651:
1639:. Retrieved
1611:
1607:
1597:
1585:. Retrieved
1565:
1561:
1515:
1511:
1469:
1465:
1426:(1): 84–86.
1423:
1420:Laryngoscope
1419:
1383:
1379:
1346:
1320:The Israeli
1300:
1296:
1289:
1242:
1222:transmission
1211:
1191:
1188:Epidemiology
1174:
1170:
1155:mouse models
1151:gene therapy
1148:
1132:
1128:
1119:
1059:
1048:
1044:
1024:
1015:
989:
980:interneurons
958:
946:degeneration
939:
934:
930:
924:
920:
914:
907:
900:
898:
879:
849:
805:
760:
757:q14.3-q21.1
718:
674:
628:
548:
502:
455:
394: Type I
325:hearing loss
322:
306:
300:
294:
292:
289:
281:
275:
269:
259:
257:
249:
233:
210:
192:
190:
175:
145:
129:
117:hearing loss
107:, is a rare
104:
100:
96:
92:
88:
87:
4106:plakophilin
4069:desmoplakin
4035:plakoglobin
3789:Laminopathy
3685:Monilethrix
3533:keratoderma
3406:Tropomyosin
3298:Myofilament
3182:Peripheral
3026:Presbycusis
2979:Phonophobia
2974:Hyperacusis
2538:Dtsch. Klin
1754:J Med Genet
1466:Clin. Genet
1328:Katie Kelly
1051:chromosomal
977:parvalbumin
770:Very large
556:Cadherin 23
412:Type
221:stereocilia
41:Other names
4160:Categories
4122:centrosome
3739:Peripherin
3116:Audiometry
3111:Weber test
3101:Rinne test
2822:DiseasesDB
2688:2010-11-03
2663:2015-08-07
2525:: 250–253.
2506:: 130–236.
1849:: 271–97.
1386:: 237–45.
1356:References
1182:amino-acid
1163:lentivirus
1016:pigmentosa
1008:nyctalopia
952:or in the
625:q11.2-q21
499:p15.1-p14
357:cone cells
349:nyctalopia
3940:Tauopathy
3529:keratosis
3457:Fibrillin
3162:nystagmus
3121:pure tone
2833:SNOMED CT
2241:221393918
2028:0027-8424
1793:Hum Genet
1322:Nalaga'at
1249:zebrafish
1218:pathology
1145:Treatment
1092:(MPS-1),
1041:Diagnosis
1035:dysacusis
1031:inner ear
856:Clarin-1
341:rod cells
333:inner ear
217:inner ear
143:pattern.
133:inner ear
68:Specialty
3967:Spectrin
3959:Membrane
3800:Dunnigan
3383:Troponin
3150:Symptoms
2969:Tinnitus
2954:Symptoms
2857:Orphanet
2838:57838006
2792:: H35.53
2391:17268537
2233:14399116
2197:: 18–36.
2176:17936325
2046:28705869
1979:16400615
1923:16545802
1863:11701652
1821:22812718
1813:15660226
1784:16679490
1686:40248505
1678:15198377
1636:43346043
1628:12498372
1582:10704190
1540:26501078
1494:26853136
1448:41124463
1440:11192904
1402:11190026
1178:proteins
1096:(CPEO),
846:q21-q25
812:Whirlin
802:q32-q34
725:Usherin
671:q24-q25
545:q21-q22
510:Harmonin
433:UniProt
4090:plectin
4007:Catenin
3987:Ankyrin
3883:Kinesin
3791:: LMNA
3474:Filamin
3282:defects
3171:Disease
3157:Vertigo
3142:Balance
2990:Disease
2946:Hearing
2938:balance
2934:hearing
2816:D052245
2485:6885960
2450:4897966
2382:9307148
2340:7711740
2167:2680226
2122:6604514
2084:8160750
2037:5544301
2006:Bibcode
1970:1380243
1775:2564578
1735:9135408
1726:1721995
1641:4 March
1587:29 June
1532:8864816
1486:3594933
1393:1298229
1208:History
1029:of the
1027:cochlea
767:VLGR1b
619:11–19%
539:19–35%
446:39–55%
373:annulus
359:in the
343:of the
240:Acadian
157:Finnish
153:Acadian
3906:Dynein
3834:LEMD3
3712:Desmin
3340:Myosin
3325:DFNA20
2805:276901
2802:276900
2733:
2714:
2631:
2606:
2581:
2483:
2448:
2389:
2379:
2338:
2305:454290
2303:
2269:817406
2267:
2239:
2231:
2174:
2164:
2120:
2082:
2044:
2034:
2026:
1977:
1967:
1921:
1871:505750
1869:
1861:
1819:
1811:
1782:
1772:
1733:
1723:
1684:
1676:
1634:
1626:
1580:
1538:
1530:
1492:
1484:
1446:
1438:
1400:
1390:
1269:author
1167:encode
1159:myosin
1004:macula
1000:retina
994:. The
961:PCDH15
873:276902
867:P58418
837:USH3A
831:611383
825:Q9P202
807:DFNB31
793:USH2D
787:605472
781:Q8WXG9
748:USH2C
742:276901
736:O75445
706:USH2A
700:606943
694:Q495M9
662:USH1G
656:602083
650:Q96QU1
630:PCDH15
616:USH1F
610:602097
582:USH1E
576:601067
570:Q9H251
536:USH1D
530:276904
524:Q9Y6N9
490:USH1C
484:276900
478:Q13402
463:Myosin
452:q13.5
443:USH1B
404:
398:
392:
369:foveal
361:macula
345:retina
276:USH2A
271:DFNB31
202:PCDH15
178:vision
137:retina
75:
4062:Other
3933:Other
3824:LMNB
3681:KRT86
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3673:KRT81
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3653:KRT17
3643:KRT14
3633:KRT13
3623:KRT12
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