33:
120:
313:. The surface ratios of these smaller axons make them even more vulnerable to mitochondrial impairments. Biochemical and mitochondrial morphological studies on cells from patients affected by autosomal dominant optic atrophy have shown a severe defect in the shape (with a very remarkable fragmentation of the mitochondrial tubules in small spheres) and distribution of mitochondria, occurring independently from a bioenergetic defect (respiratory chain function,
213:
chance in routine school eye screenings. The first signs of DOA typically present between 6â10 years of age, though presentation at as early as 1 year of age has been reported. In some cases, Dominant optic atrophy may remain subclinical until early adulthood. While symptoms typically begin to present in childhood, adult patients (around the age of 35) commonly complain of new onset loss of vision at near.
197:(OCT) analyzes the optic nerve headâshows other structural consequences of the disease as retinal nerve fiber layer (RNFL) and ganglion cell layer thinning. Photographs of the fundus shows the typical optic atrophy worse on the temporal side of the optic disc in the shape of a wedge. Cupping of the optic disc was found in 89% of DOA patients in at least one of their eyes.
697:
Delettre, C; Lenaers, G; Griffoin, JM; Gigarel, N; Lorenzo, C; Belenguer, P; Pelloquin, L; Grosgeorge, J; Turc-Carel, C; Perret, E; Astarie-Dequeker, C; Lasquellec, L; Arnaud, B; Ducommun, B; Kaplan, J; Hamel, CP (October 2000). "Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is
216:
The emergence of premature presbyopia occurs from DOA patients being accustomed to holding objects closer to their faces to read. As a result, Donderâs curve should not be used to prescribe them lenses to correct premature presbyopia. Instead of calculating based on individuals reading from about 16
181:
Autosomal dominant optic atrophy can present clinically as an isolated bilateral optic neuropathy (non-syndromic form) or rather as a complicated phenotype with extra-ocular signs (syndromic form). Dominant optic atrophy usually affects both eyes roughly symmetrically in a slowly progressive pattern
647:
Yu-Wai-Man, P; Griffiths, PG; Gorman, GS; Lourenco, CM; Wright, AF; Auer-Grumbach, M; Toscano, A; Musumeci, O; Valentino, ML; Caporali, L; Lamperti, C; Tallaksen, CM; Duffey, P; Miller, J; Whittaker, RG; Baker, MR; Jackson, MJ; Clarke, MP; Dhillon, B; Czermin, B; Stewart, JD; Hudson, G; Reynier, P;
340:
Currently, there are no curative therapies available for dominant optic atrophy. Some studies have found usage of idebenone to be associated with mild improvement in visual acuity for DOA patients with OPA1 mutation. Idebenone works as an antioxidant by shuttling electrons affected by reduced ATP
212:
evident on examination includes optic atrophy. In some cases, this may include optic disc cupping similar in appearance to glaucoma of the optic disc. Because the onset of
Dominant optic atrophy is insidious, symptoms are often not noticed by the patients in its early stages and are picked up by
220:
Progression of dominant optic atrophy varies even within the same family. Some have mild cases with visual acuity stabilizing in adolescence, others have slowly but constantly progressing cases, and others still have sudden step-like decreases in visual acuity. Generally, the severity of the
344:
Patients should be monitored for changes in vision by their eye-care professional. Children of patients should be screened regularly for visual changes related to dominant optic atrophy. Research is underway to further characterize the disease so that therapies may be developed.
224:
In complicated cases of autosomal dominant optic atrophy, in addition to bilateral optic neuropathy, several other neurological signs of neurological involvement can rarely be observed: peripheral neuropathy, deafness, cerebellar ataxia, spastic paraparesis, myopathy.
161:
dysfunction mediating the death of optic nerve fibers. The RGCs axons form the optic nerve. Therefore, the disease can be considered of the central nervous system. Dominant optic atrophy was first described clinically by Batten in 1896 and named Kjerâs optic
152:
beginning in childhood. However, the disease can seem to re-present a second time with further vision loss due to the early onset of presbyopia symptoms (i.e., difficulty in viewing objects up close). DOA is characterized as affecting neurons called
262:
The OPA1 gene codes for a dynamin-related GTPase protein targeted to the mitochondrial inner membrane. OPA1 has distinct roles in the fusion of mitochondrial inner membranes during mitochondrial fusion events, and in regulation of cell death.
204:
varying from mild to severe, typically ranging from 6/6 (in meters, equivalent to 20/20, ft) to 6/60 (20/200, ft) with a median value of 6/36 (roughly equivalent to 20/125 ft), corrected vision. Vision loss may sometimes be more severe.
1127:
321:
defect is the primary pathogenetic mechanism, although variable bioenergetic defects can also occur as a secondary phenomenon, especially in severe cases with complicated phenotypes and accumulation of multiple mitochondrial-DNA deletions.
221:
condition by adolescence reflects the overall level of visual function to be expected throughout most of the patientâs adult life (Votruba, 1998). Slow decline in acuity is known to occur in late middle age in some families.
258:
gene found on chromosome 3, region q28-qter. Also, 5 other chromosomal genes are described as causing optic atrophy: OPA2 (x-linked), OPA3 (dominant), OPA4 (dominant), OPA5 (dominant) and OPA6 (recessive) (see OMIM 165500).
782:
Spinazzi, M; Cazzola, S; Bortolozzi, M; Baracca, A; Loro, E; Casarin, A; Solaini, G; Sgarbi, G; Casalena, G; Cenacchi, G; Malena, A; Frezza, C; Carrara, F; Angelini, C; Scorrano, L; Salviati, L; Vergani, L (Nov 1, 2008).
241:
patient with the disease has a 50% chance of passing on the disease to each offspring, assuming his/her partner does not have the disease. Males and females are affected at the same rate. Although DOA has a high
352:
has been focusing on fellow patients and their families. They have the following goals: scientific research, disease awareness, interaction between all parties involved and a trustworthy place for the patients.
193:
A Humphrey Visual Field (HVF) can detect where areas of impaired vision have occurred, which usually shows up as central, centrocaecal, or paracentral scotomas for DOA patients. Another visual testâ
173:, who studied 19 families with the disease. Although dominant optic atrophy is the most common autosomally inherited optic neuropathy (i.e., disease of the optic nerves), it is often misdiagnosed.
2878:
648:
Bonneau, D; Marques, W Jr; Lenaers, G; McFarland, R; Taylor, RW; Turnbull, DM; Votruba, M; Zeviani, M; Carelli, V; Bindoff, LA; Horvath, R; Amati-Bonneau, P; Chinnery, PF (March 2010).
932:
Romagnoli, Martina; La Morgia, Chiara; Carbonelli, Michele; Di Vito, Lidia; Amore, Giulia; Zenesini, Corrado; Cascavilla, Maria Lucia; Barboni, Piero; Carelli, Valerio (April 2020).
824:
Romagnoli, Martina; La Morgia, Chiara; Carbonelli, Michele; Di Vito, Lidia; Amore, Giulia; Zenesini, Corrado; Cascavilla, Maria Lucia; Barboni, Piero; Carelli, Valerio (April 2020).
2969:
741:
Frezza, C; Cipolat, S; Martins de Brito, O; Micaroni, M; Beznoussenko, GV; Rudka, T; Bartoli, D; Polishuck, RS; Danial, NN; De
Strooper, B; Scorrano, L (Jul 14, 2006).
2756:
2194:
1591:
524:
254:
Vision loss in dominant optic atrophy is due to optic nerve fiber loss from mitochondria dysfunction. Dominant optic atrophy is associated with mutation of the
2857:
2815:
2263:
2189:
341:
synthesis and defective oxidative phosphorylation in complex I directly to complex III. Typically, idebenone is prescribed to be taken three times a day.
422:
Lenaers, Guy; Hamel, Christian P; Delettre, Cecile; Amati-Bonneau, Patrizia; Procaccio, Vincent; Bonneau, Dominique; Reynier, Pascal; Milea, Dan (2012).
2773:
1203:
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2031:
2749:
2071:
883:
Giorgio, Valentina; Petronilli, Valeria; Ghelli, Anna; Carelli, Valerio; Rugolo, Michela; Lenaz, Giorgio; Bernardi, Paolo (February 2012).
325:
Over 200 different mutations of the OPA1 gene causing DOA have been reported, most of which occur in the catalytic domain of the protein.
54:
2184:
1142:
579:
Fournier, Annick V; Damji, Karim F; Epstein, David L; Pollock, Stephen C (September 2001). "Disc excavation in dominant optic atrophy".
2179:
2066:
1633:
2786:
1794:
631:
555:
508:
406:
76:
1934:
1899:
1032:
473:
Kjer, P (1959). "Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families".
2934:
785:"A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function"
2949:
2839:
2781:
2742:
2474:
1992:
1904:
1894:
1623:
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portion, hence the high energy demand and sensitivity to mitochondrial dysfunction. This is especially the case for smaller
1987:
1878:
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2900:
2385:
2076:
2061:
255:
194:
1273:
1231:
1196:
47:
41:
217:
inches from the face, DOA patients should be calculated at around 8 inches due to their shortened reading distance.
1997:
1971:
1929:
1924:
1789:
1662:
1650:
1606:
2833:
2268:
1667:
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2021:
1866:
1613:
278:
58:
1919:
1890:
1514:
1479:
1153:
362:
282:
103:
Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy; or, Kjer's autosomal dominant optic atrophy.
2390:
2144:
1944:
1464:
1457:
995:
Carelli; Ross-Cisneros, FN; Sadun, AA (2004). "Mitochondrial dysfunction as a cause of optic neuropathies".
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2559:
2286:
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1429:
1189:
286:
274:
154:
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2602:
2278:
934:"Idebenone increases chance of stabilization/recovery of visual acuity in OPA1 âdominant optic atrophy"
826:"Idebenone increases chance of stabilization/recovery of visual acuity in OPA1 âdominant optic atrophy"
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1961:
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1914:
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119:
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2017:
1981:
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With loss of the central visual fields, there is impairment of color vision in addition to loss of
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246:(98%), severity and progression of DOA are extremely variable even within the same family.
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2417:
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1064:"Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy"
592:
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1976:
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1772:
1749:
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1008:
378:
314:
201:
158:
145:
1024:
743:"OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion"
727:
2504:
2332:
1713:
1628:
1536:
1414:
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Sadun, Alfredo A.; Wang, Michelle Y. (2011). "Abnormalities of the optic disc".
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2310:
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2225:
2115:
1474:
1339:
366:
270:
243:
163:
650:"Multi-system neurological disease is common in patients with OPA1 mutations"
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2342:
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1531:
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317:, and reactive oxygen species production) or apoptosis, indicating that the
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113:
1016:
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17:
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Sadun, A.A.; Chicani, C.F. (2010). "Inherited Optic
Neuropathies".
542:. Handbook of Clinical Neurology. Vol. 102. pp. 117â157.
328:
Mutations at the OPA1 gene are also associated with normal tension
269:
are subcellular structures that generate and transform energy from
2914:
2616:
711:
302:
365:
of dominant optic atrophy has been estimated to be 1:50,000 with
1696:
1258:
1147:
2738:
2701:
2097:
1500:
1229:
1185:
1056:
1050:
1044:
1038:
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as high as 1:10,000 in the Danish population (Votruba, 1998).
26:
309:, which transmit information corresponding to the central
885:"The effects of idebenone on mitochondrial bioenergetics"
305:
such as those found in the papillomacular bundle of the
134:
autosomal dominant optic atrophy (ADOA), (Kjer's type)
349:
186:
beginning in childhood and is hence a contributor to
1109:
2892:
2866:
2824:
2795:
2772:
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2615:
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2006:
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889:
Biochimica et
Biophysica Acta (BBA) - Bioenergetics
107:
99:
94:
2190:arteritic anterior (AAION or arteritic AION)
938:Annals of Clinical and Translational Neurology
830:Annals of Clinical and Translational Neurology
2750:
1197:
1062:Votruba; Moore, AT; Bhattacharya, SS (1998).
8:
2970:Disorders of optic nerve and visual pathways
2264:Chronic progressive external ophthalmoplegia
1592:Thygeson's superficial punctate keratopathy
2757:
2743:
2735:
2698:
2462:
2251:
2242:
2120:
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1226:
1204:
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1110:
523:: CS1 maint: location missing publisher (
332:(OMIM 606657) and deafness (OMIM 125250).
233:Dominant optic atrophy is inherited in an
118:
91:
1087:
967:
957:
908:
859:
849:
800:
758:
673:
449:
439:
77:Learn how and when to remove this message
40:This article includes a list of general
501:Advances in Ophthalmology and Optometry
401:. San Diego, CA: Academic Press. 2011.
390:
516:
7:
2072:Familial exudative vitreoretinopathy
997:Progress in Retinal and Eye Research
698:mutated in dominant optic atrophy".
2195:non-arteritic anterior (NAION)
2032:Leber's hereditary optic neuropathy
140:inherited disease that affects the
2067:Persistent tunica vasculosa lentis
624:10.1016/B978-0-12-374203-2.00288-8
548:10.1016/B978-0-444-52903-9.00011-X
46:it lacks sufficient corresponding
25:
1795:Polypoidal choroidal vasculopathy
1043:OMIM: OPA1 Normotension glaucoma
475:Acta Ophthalmologica Supplementum
428:Orphanet Journal of Rare Diseases
157:(RGCs). This condition is due to
1900:Central retinal artery occlusion
1009:10.1016/j.preteyeres.2003.10.003
277:) for the cellâs functions (See
31:
2840:Mitochondrial encephalomyopathy
1905:Branch retinal artery occlusion
1634:Terrien's marginal degeneration
1935:Bietti's crystalline dystrophy
1895:Central retinal vein occlusion
1624:Pellucid marginal degeneration
208:Characteristic changes of the
1:
1988:Vitelliform macular dystrophy
1879:Posterior vitreous detachment
1745:Persistent pupillary membrane
654:Brain: A Journal of Neurology
593:10.1016/S0161-6420(01)00696-0
2475:Leber's congenital amaurosis
2386:Internuclear ophthalmoplegia
2077:Vogt-Koyanagi-Harada disease
2062:Persistent fetal vasculature
1993:Leber's congenital amaurosis
901:10.1016/j.bbabio.2011.10.012
399:The retina and its disorders
273:into discrete usable units (
195:optical coherence tomography
130:Dominant optic atrophy (DOA)
1274:Meibomian gland dysfunction
1068:Journal of Medical Genetics
2986:
1998:Birdshot chorioretinopathy
1972:Central serous retinopathy
1790:Focal choroidal excavation
1663:Corneal neovascularization
1480:Subconjunctival hemorrhage
760:10.1016/j.cell.2006.06.025
2945:
2710:
2697:
2465:
2381:Convergence insufficiency
2254:
2123:
2106:
2093:
2022:Primary juvenile glaucoma
1867:Cytomegalovirus retinitis
1509:
1496:
1282:
1238:
1225:
1216:Diseases of the human eye
279:oxidative phosphorylation
2935:MohrâTranebjĂŚrg syndrome
1891:Ocular ischemic syndrome
789:Human Molecular Genetics
424:"Dominant optic atrophy"
283:electron transport chain
2907:Kjer's optic neuropathy
2774:Carbohydrate metabolism
2391:One and a half syndrome
2145:Foster Kennedy syndrome
616:Encyclopedia of the Eye
95:Kjer's optic neuropathy
61:more precise citations.
2950:mitochondrial proteins
2766:Mitochondrial diseases
2630:Argyll Robertson pupil
1430:Periorbital cellulitis
1055:OMIM: Optic Atrophy 1
441:10.1186/1750-1172-7-46
287:Retinal ganglion cells
155:retinal ganglion cells
2603:Scintillating scotoma
2269:KearnsâSayre syndrome
2212:Toxic and nutritional
2185:posterior (PION)
1668:KayserâFleischer ring
1080:10.1136/jmg.35.10.793
348:Since November 2018,
166:in 1959 after Danish
2376:Conjugate gaze palsy
2247:Paralytic strabismus
2180:anterior (AION)
1962:Retinitis pigmentosa
1957:Macular degeneration
1730:Intermediate uveitis
1646:Keratoconjunctivitis
1037:OMIM: OPA1 deafness
666:10.1093/brain/awq007
350:Cure ADOA Foundation
319:mitochondrial fusion
2681:Childhood blindness
2660:Parinaud's syndrome
2230:Extraocular muscles
2018:Ocular hypertension
1982:Epiretinal membrane
1967:Retinal haemorrhage
1822:Congenital cataract
540:Neuro-ophthalmology
503:. Amsterdam. 2019.
237:manner. That is, a
188:childhood blindness
2207:Leber's hereditary
1874:Retinal detachment
1827:Childhood cataract
1639:Post-LASIK ectasia
1420:Orbital cellulitis
1369:Lacrimal apparatus
950:10.1002/acn3.51026
842:10.1002/acn3.51026
802:10.1093/hmg/ddn225
481:(Supp 54): 1â147.
235:autosomal dominant
144:, causing reduced
2957:
2956:
2867:No primary system
2732:
2731:
2728:
2727:
2693:
2692:
2689:
2688:
2635:Marcus Gunn pupil
2611:
2610:
2532:Visual impairment
2399:
2398:
2305:
2304:
2292:Fourth-nerve (IV)
2220:
2219:
2157:Optic disc drusen
2089:
2088:
2085:
2084:
1803:
1802:
1691:
1690:
1597:Corneal dystrophy
1492:
1491:
1488:
1487:
1363:
1362:
1179:
1178:
1031:Entrez Gene OPA1
127:
126:
89:Medical condition
87:
86:
79:
16:(Redirected from
2977:
2884:Pearson syndrome
2759:
2752:
2745:
2736:
2699:
2463:
2454:Vision disorders
2413:Refractive error
2355:Brown's syndrome
2311:Other strabismus
2297:Sixth-nerve (VI)
2287:Oculomotor (III)
2259:Ophthalmoparesis
2252:
2243:
2234:Binocular vision
2167:Optic neuropathy
2133:optic papillitis
2121:
2108:
2095:
1984:(Macular pucker)
1702:
1683:Band keratopathy
1520:
1511:
1498:
1425:Orbital lymphoma
1312:Blepharophimosis
1302:Blepharochalasis
1249:
1240:
1227:
1206:
1199:
1192:
1183:
1111:
1101:
1091:
1028:
982:
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929:
923:
922:
912:
880:
874:
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863:
853:
821:
815:
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804:
795:(21): 3291â302.
779:
773:
772:
762:
738:
732:
731:
694:
688:
687:
677:
660:(Pt 3): 771â86.
644:
638:
637:
611:
605:
604:
587:(9): 1595â1602.
576:
570:
569:
535:
529:
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522:
514:
497:
491:
490:
470:
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463:
453:
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419:
413:
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395:
297:and have a long
123:
122:
92:
82:
75:
71:
68:
62:
57:this article by
48:inline citations
35:
34:
27:
21:
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2941:
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2820:
2791:
2768:
2763:
2733:
2724:
2706:
2685:
2664:
2607:
2576:
2536:
2490:Color blindness
2456:
2448:
2395:
2369:Other binocular
2364:
2301:
2273:
2236:
2232:
2228:
2216:
2161:
2114:
2102:
2081:
2037:Ocular hypotony
2002:
1862:Chorioretinitis
1843:
1799:
1783:Chorioretinitis
1759:
1740:Rubeosis iridis
1718:
1687:
1658:Corneal opacity
1614:Corneal ectasia
1541:
1505:
1484:
1470:Pseudopterygium
1434:
1396:
1359:
1326:
1322:Ankyloblepharon
1278:
1234:
1221:
1220:
1210:
1180:
1175:
1174:
1122:
1108:
1074:(10): 793â800.
1061:
994:
991:
989:Further reading
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735:
700:Nature Genetics
696:
695:
691:
646:
645:
641:
634:
613:
612:
608:
578:
577:
573:
558:
537:
536:
532:
515:
511:
499:
498:
494:
472:
471:
467:
421:
420:
416:
409:
397:
396:
392:
387:
375:
359:
338:
252:
250:Pathophysiology
231:
179:
168:ophthalmologist
117:
90:
83:
72:
66:
63:
53:Please help to
52:
36:
32:
23:
22:
15:
12:
11:
5:
2983:
2981:
2973:
2972:
2962:
2961:
2955:
2954:
2946:
2943:
2942:
2940:
2939:
2938:
2937:
2925:
2924:
2923:
2921:HUPRA syndrome
2911:
2910:
2909:
2896:
2894:
2890:
2889:
2887:
2886:
2881:
2876:
2870:
2868:
2864:
2863:
2861:
2860:
2855:
2854:
2853:
2848:
2836:
2830:
2828:
2822:
2821:
2819:
2818:
2813:
2808:
2802:
2800:
2798:nervous system
2793:
2792:
2790:
2789:
2784:
2778:
2776:
2770:
2769:
2764:
2762:
2761:
2754:
2747:
2739:
2730:
2729:
2726:
2725:
2723:
2722:
2720:Onchocerciasis
2717:
2711:
2708:
2707:
2702:
2695:
2694:
2691:
2690:
2687:
2686:
2684:
2683:
2678:
2672:
2670:
2666:
2665:
2663:
2662:
2657:
2652:
2647:
2642:
2637:
2632:
2627:
2621:
2619:
2613:
2612:
2609:
2608:
2606:
2605:
2600:
2595:
2590:
2584:
2582:
2578:
2577:
2575:
2574:
2572:Quadrantanopia
2569:
2568:
2567:
2562:
2557:
2546:
2544:
2538:
2537:
2535:
2534:
2521:
2520:
2519:
2517:Oguchi disease
2509:
2508:
2507:
2502:
2497:
2487:
2482:
2477:
2472:
2466:
2460:
2450:
2449:
2447:
2446:
2441:
2432:
2427:
2426:
2425:
2420:
2409:
2407:
2401:
2400:
2397:
2396:
2394:
2393:
2388:
2383:
2378:
2372:
2370:
2366:
2365:
2363:
2362:
2360:Duane syndrome
2357:
2352:
2347:
2346:
2345:
2340:
2330:
2325:
2315:
2313:
2307:
2306:
2303:
2302:
2300:
2299:
2294:
2289:
2283:
2281:
2275:
2274:
2272:
2271:
2266:
2261:
2255:
2249:
2240:
2222:
2221:
2218:
2217:
2215:
2214:
2209:
2204:
2199:
2198:
2197:
2192:
2187:
2182:
2171:
2169:
2163:
2162:
2160:
2159:
2154:
2149:
2148:
2147:
2137:
2136:
2135:
2128:Optic neuritis
2124:
2118:
2104:
2103:
2098:
2091:
2090:
2087:
2086:
2083:
2082:
2080:
2079:
2074:
2069:
2064:
2059:
2057:Phthisis bulbi
2054:
2049:
2044:
2039:
2034:
2029:
2024:
2010:
2008:
2004:
2003:
2001:
2000:
1995:
1990:
1985:
1979:
1974:
1969:
1964:
1959:
1954:
1953:
1952:
1947:
1942:
1940:Coats' disease
1937:
1932:
1930:of prematurity
1927:
1922:
1917:
1907:
1902:
1897:
1888:
1883:
1882:
1881:
1871:
1870:
1869:
1864:
1853:
1851:
1845:
1844:
1842:
1841:
1839:Ectopia lentis
1836:
1831:
1830:
1829:
1824:
1813:
1811:
1805:
1804:
1801:
1800:
1798:
1797:
1792:
1787:
1786:
1785:
1775:
1769:
1767:
1761:
1760:
1758:
1757:
1752:
1747:
1742:
1737:
1732:
1727:
1721:
1719:
1717:
1716:
1711:
1705:
1699:
1697:Vascular tunic
1693:
1692:
1689:
1688:
1686:
1685:
1680:
1675:
1670:
1665:
1660:
1655:
1654:
1653:
1643:
1642:
1641:
1636:
1631:
1626:
1621:
1611:
1610:
1609:
1604:
1594:
1589:
1584:
1583:
1582:
1580:Photokeratitis
1577:
1572:
1567:
1562:
1551:
1549:
1543:
1542:
1540:
1539:
1534:
1528:
1526:
1517:
1507:
1506:
1501:
1494:
1493:
1490:
1489:
1486:
1485:
1483:
1482:
1477:
1472:
1467:
1462:
1461:
1460:
1453:Conjunctivitis
1450:
1444:
1442:
1436:
1435:
1433:
1432:
1427:
1422:
1417:
1412:
1406:
1404:
1398:
1397:
1395:
1394:
1389:
1387:Dacryocystitis
1384:
1379:
1377:Dacryoadenitis
1373:
1371:
1365:
1364:
1361:
1360:
1358:
1357:
1352:
1347:
1342:
1336:
1334:
1328:
1327:
1325:
1324:
1319:
1314:
1309:
1304:
1299:
1294:
1289:
1283:
1280:
1279:
1277:
1276:
1271:
1266:
1261:
1255:
1253:
1246:
1236:
1235:
1230:
1223:
1222:
1219:
1218:
1212:
1211:
1209:
1208:
1201:
1194:
1186:
1177:
1176:
1173:
1172:
1161:
1150:
1139:
1123:
1118:
1117:
1115:
1114:Classification
1107:
1106:External links
1104:
1103:
1102:
1059:
1053:
1047:
1041:
1035:
1029:
990:
987:
984:
983:
944:(4): 590â594.
924:
895:(2): 363â369.
875:
836:(4): 590â594.
816:
774:
733:
689:
639:
632:
606:
571:
556:
530:
509:
492:
465:
414:
407:
389:
388:
386:
383:
382:
381:
374:
371:
358:
355:
337:
334:
293:) make up the
251:
248:
230:
227:
178:
175:
125:
124:
111:
105:
104:
101:
97:
96:
88:
85:
84:
39:
37:
30:
24:
14:
13:
10:
9:
6:
4:
3:
2:
2982:
2971:
2968:
2967:
2965:
2952:
2951:
2944:
2936:
2933:
2932:
2931:
2930:
2926:
2922:
2919:
2918:
2917:
2916:
2912:
2908:
2905:
2904:
2903:
2902:
2898:
2897:
2895:
2891:
2885:
2882:
2880:
2877:
2875:
2872:
2871:
2869:
2865:
2859:
2856:
2852:
2849:
2847:
2844:
2843:
2842:
2841:
2837:
2835:
2832:
2831:
2829:
2827:
2823:
2817:
2814:
2812:
2809:
2807:
2806:Leigh disease
2804:
2803:
2801:
2799:
2794:
2788:
2785:
2783:
2780:
2779:
2777:
2775:
2771:
2767:
2760:
2755:
2753:
2748:
2746:
2741:
2740:
2737:
2721:
2718:
2716:
2713:
2712:
2709:
2705:
2700:
2696:
2682:
2679:
2677:
2674:
2673:
2671:
2667:
2661:
2658:
2656:
2653:
2651:
2648:
2646:
2643:
2641:
2640:Adie syndrome
2638:
2636:
2633:
2631:
2628:
2626:
2623:
2622:
2620:
2618:
2614:
2604:
2601:
2599:
2596:
2594:
2591:
2589:
2586:
2585:
2583:
2579:
2573:
2570:
2566:
2563:
2561:
2558:
2556:
2553:
2552:
2551:
2548:
2547:
2545:
2543:
2539:
2533:
2529:
2525:
2522:
2518:
2515:
2514:
2513:
2510:
2506:
2503:
2501:
2498:
2496:
2495:Achromatopsia
2493:
2492:
2491:
2488:
2486:
2483:
2481:
2478:
2476:
2473:
2471:
2468:
2467:
2464:
2461:
2459:
2455:
2451:
2445:
2442:
2440:
2436:
2435:Anisometropia
2433:
2431:
2428:
2424:
2421:
2419:
2416:
2415:
2414:
2411:
2410:
2408:
2406:
2402:
2392:
2389:
2387:
2384:
2382:
2379:
2377:
2374:
2373:
2371:
2367:
2361:
2358:
2356:
2353:
2351:
2348:
2344:
2341:
2339:
2336:
2335:
2334:
2331:
2329:
2326:
2324:
2320:
2317:
2316:
2314:
2312:
2308:
2298:
2295:
2293:
2290:
2288:
2285:
2284:
2282:
2280:
2276:
2270:
2267:
2265:
2262:
2260:
2257:
2256:
2253:
2250:
2248:
2244:
2241:
2239:
2238:Accommodation
2235:
2231:
2227:
2223:
2213:
2210:
2208:
2205:
2203:
2200:
2196:
2193:
2191:
2188:
2186:
2183:
2181:
2178:
2177:
2176:
2173:
2172:
2170:
2168:
2164:
2158:
2155:
2153:
2152:Optic atrophy
2150:
2146:
2143:
2142:
2141:
2138:
2134:
2131:
2130:
2129:
2126:
2125:
2122:
2119:
2117:
2113:
2109:
2105:
2101:
2096:
2092:
2078:
2075:
2073:
2070:
2068:
2065:
2063:
2060:
2058:
2055:
2053:
2052:Keratomycosis
2050:
2048:
2047:Globe rupture
2045:
2043:
2040:
2038:
2035:
2033:
2030:
2028:
2025:
2023:
2019:
2015:
2012:
2011:
2009:
2005:
1999:
1996:
1994:
1991:
1989:
1986:
1983:
1980:
1978:
1977:Macular edema
1975:
1973:
1970:
1968:
1965:
1963:
1960:
1958:
1955:
1951:
1948:
1946:
1943:
1941:
1938:
1936:
1933:
1931:
1928:
1926:
1923:
1921:
1918:
1916:
1913:
1912:
1911:
1908:
1906:
1903:
1901:
1898:
1896:
1892:
1889:
1887:
1886:Retinoschisis
1884:
1880:
1877:
1876:
1875:
1872:
1868:
1865:
1863:
1860:
1859:
1858:
1855:
1854:
1852:
1850:
1846:
1840:
1837:
1835:
1832:
1828:
1825:
1823:
1820:
1819:
1818:
1815:
1814:
1812:
1810:
1806:
1796:
1793:
1791:
1788:
1784:
1781:
1780:
1779:
1776:
1774:
1773:Choroideremia
1771:
1770:
1768:
1766:
1762:
1756:
1753:
1751:
1750:Iridodialysis
1748:
1746:
1743:
1741:
1738:
1736:
1733:
1731:
1728:
1726:
1723:
1722:
1720:
1715:
1712:
1710:
1707:
1706:
1703:
1700:
1698:
1694:
1684:
1681:
1679:
1678:Arcus senilis
1676:
1674:
1673:Haab's striae
1671:
1669:
1666:
1664:
1661:
1659:
1656:
1652:
1649:
1648:
1647:
1644:
1640:
1637:
1635:
1632:
1630:
1627:
1625:
1622:
1620:
1617:
1616:
1615:
1612:
1608:
1605:
1603:
1600:
1599:
1598:
1595:
1593:
1590:
1588:
1587:Corneal ulcer
1585:
1581:
1578:
1576:
1573:
1571:
1568:
1566:
1565:acanthamoebic
1563:
1561:
1558:
1557:
1556:
1553:
1552:
1550:
1548:
1544:
1538:
1535:
1533:
1530:
1529:
1527:
1525:
1521:
1518:
1516:
1515:Fibrous tunic
1512:
1508:
1504:
1499:
1495:
1481:
1478:
1476:
1473:
1471:
1468:
1466:
1463:
1459:
1456:
1455:
1454:
1451:
1449:
1446:
1445:
1443:
1441:
1437:
1431:
1428:
1426:
1423:
1421:
1418:
1416:
1413:
1411:
1408:
1407:
1405:
1403:
1399:
1393:
1392:Xerophthalmia
1390:
1388:
1385:
1383:
1380:
1378:
1375:
1374:
1372:
1370:
1366:
1356:
1353:
1351:
1348:
1346:
1343:
1341:
1338:
1337:
1335:
1333:
1329:
1323:
1320:
1318:
1315:
1313:
1310:
1308:
1305:
1303:
1300:
1298:
1297:Lagophthalmos
1295:
1293:
1290:
1288:
1285:
1284:
1281:
1275:
1272:
1270:
1267:
1265:
1262:
1260:
1257:
1256:
1254:
1250:
1247:
1245:
1241:
1237:
1233:
1228:
1224:
1217:
1214:
1213:
1207:
1202:
1200:
1195:
1193:
1188:
1187:
1184:
1171:
1167:
1166:
1162:
1160:
1156:
1155:
1151:
1149:
1145:
1144:
1140:
1138:
1134:
1133:
1129:
1125:
1124:
1121:
1116:
1112:
1105:
1099:
1095:
1090:
1085:
1081:
1077:
1073:
1069:
1065:
1060:
1058:
1054:
1052:
1048:
1046:
1042:
1040:
1036:
1034:
1030:
1026:
1022:
1018:
1014:
1010:
1006:
1002:
998:
993:
992:
988:
979:
975:
970:
965:
960:
955:
951:
947:
943:
939:
935:
928:
925:
920:
916:
911:
906:
902:
898:
894:
890:
886:
879:
876:
871:
867:
862:
857:
852:
847:
843:
839:
835:
831:
827:
820:
817:
812:
808:
803:
798:
794:
790:
786:
778:
775:
770:
766:
761:
756:
753:(1): 177â89.
752:
748:
744:
737:
734:
729:
725:
721:
717:
713:
712:10.1038/79936
709:
706:(2): 207â10.
705:
701:
693:
690:
685:
681:
676:
671:
667:
663:
659:
655:
651:
643:
640:
635:
633:9780123742032
629:
625:
621:
617:
610:
607:
602:
598:
594:
590:
586:
582:
581:Ophthalmology
575:
572:
567:
563:
559:
557:9780444529039
553:
549:
545:
541:
534:
531:
526:
520:
512:
510:9780323712002
506:
502:
496:
493:
488:
484:
480:
476:
469:
466:
461:
457:
452:
447:
442:
437:
433:
429:
425:
418:
415:
410:
408:9780123821997
404:
400:
394:
391:
384:
380:
379:Optic atrophy
377:
376:
372:
370:
368:
364:
356:
354:
351:
346:
342:
335:
333:
331:
326:
323:
320:
316:
315:ATP synthesis
312:
308:
304:
300:
296:
292:
288:
284:
280:
276:
272:
268:
264:
260:
257:
249:
247:
245:
240:
236:
228:
226:
222:
218:
214:
211:
206:
203:
202:visual acuity
198:
196:
191:
189:
185:
176:
174:
172:
169:
165:
160:
159:mitochondrial
156:
151:
147:
146:visual acuity
143:
139:
135:
131:
121:
115:
112:
110:
106:
102:
98:
93:
81:
78:
70:
60:
56:
50:
49:
43:
38:
29:
28:
19:
2947:
2927:
2913:
2906:
2899:
2838:
2530: /
2526: /
2505:Monochromacy
2437: /
2333:Heterophoria
2321: /
2201:
2020: /
2016: /
1920:hypertensive
1893: /
1714:Ciliary body
1629:Keratoglobus
1537:Episcleritis
1415:Enophthalmos
1410:Exophthalmos
1355:Trichomegaly
1350:Distichiasis
1252:Inflammation
1163:
1152:
1141:
1126:
1071:
1067:
1003:(1): 53â89.
1000:
996:
959:11585/794071
941:
937:
927:
892:
888:
878:
851:11585/794071
833:
829:
819:
792:
788:
777:
750:
746:
736:
703:
699:
692:
657:
653:
642:
615:
609:
584:
580:
574:
539:
533:
500:
495:
478:
474:
468:
431:
427:
417:
398:
393:
360:
347:
343:
339:
327:
324:
311:visual field
299:unmyelinated
267:Mitochondria
265:
261:
253:
239:heterozygous
232:
223:
219:
215:
210:fundus (eye)
207:
199:
192:
180:
177:Presentation
142:optic nerves
133:
129:
128:
73:
67:October 2009
64:
45:
2893:Chromosomal
2655:Cycloplegia
2598:Photophobia
2593:Hemeralopia
2550:Hemianopsia
2528:Vision loss
2439:Aniseikonia
2430:Astigmatism
2350:Cyclotropia
2328:Hypertropia
2140:Papilledema
2112:Optic nerve
1945:Sickle cell
1925:Purtscher's
1910:Retinopathy
1778:Choroiditis
1619:Keratoconus
1440:Conjunctiva
1317:Xanthelasma
1269:Blepharitis
1057:OMIM 165500
1051:OMIM 605290
1049:OMIM: OPA1
1045:OMIM 606657
1039:OMIM 125250
618:: 387â391.
295:optic nerve
184:vision loss
138:autosomally
100:Other names
59:introducing
2826:Myopathies
2796:Primarily
2704:Infections
2625:Anisocoria
2588:Asthenopia
2581:subjective
2565:homonymous
2560:bitemporal
2512:Nyctalopia
2500:Dichromacy
2444:Presbyopia
2405:Refraction
2226:Strabismus
2116:Optic disc
1475:Pinguecula
1340:Trichiasis
1165:DiseasesDB
385:References
367:prevalence
336:Management
271:metabolism
244:penetrance
164:neuropathy
42:references
2948:see also
2676:Nystagmus
2650:Mydriasis
2524:Blindness
2470:Amblyopia
2458:Blindness
2418:Hyperopia
2343:Exophoria
2338:Esophoria
2323:Exotropia
2319:Esotropia
1857:Retinitis
1555:Keratitis
1532:Scleritis
1465:Pterygium
1345:Madarosis
1292:Ectropion
1287:Entropion
1264:Chalazion
519:cite book
434:(1): 46.
363:incidence
357:Incidence
171:Poul Kjer
150:blindness
114:Neurology
109:Specialty
2964:Category
2715:Trachoma
2480:Diplopia
2175:Ischemic
2100:Pathways
2014:Glaucoma
1915:diabetic
1817:Cataract
1755:Synechia
1607:Meesmann
1575:Exposure
1560:herpetic
1458:allergic
1448:Chemosis
1382:Epiphora
1025:15862778
1017:14766317
978:32243103
919:22086148
870:32243103
811:18678599
769:16839885
728:24514847
720:11017079
684:20157015
601:11535456
566:21601065
487:13660776
460:22776096
373:See also
330:glaucoma
229:Genetics
2555:binasal
2542:Anopsia
2485:Scotoma
2279:palsies
2042:Red eye
2027:Floater
1834:Aphakia
1765:Choroid
1735:Hyphema
1725:Uveitis
1332:Eyelash
1159:D029241
1098:9783700
1089:1051452
969:7187718
910:3265671
861:7187718
675:2842512
451:3526509
291:neurons
55:improve
2929:TIMM8A
2645:Miosis
2423:Myopia
2202:Kjer's
1950:photic
1849:Retina
1602:Fuchs'
1570:fungal
1547:Cornea
1524:Sclera
1307:Ptosis
1244:Eyelid
1232:Adnexa
1148:165500
1137:377.16
1096:
1086:
1023:
1015:
976:
966:
917:
907:
868:
858:
809:
767:
726:
718:
682:
672:
630:
599:
564:
554:
507:
485:
458:
448:
405:
307:retina
136:is an
116:
44:, but
2915:SARS2
2879:MNGIE
2851:MERRF
2846:MELAS
2669:Other
2617:Pupil
2007:Other
1651:sicca
1503:Globe
1402:Orbit
1170:34452
1021:S2CID
724:S2CID
303:axons
132:, or
2901:OPA1
2858:CPEO
2816:NARP
2811:LHON
2787:PDHA
1809:Lens
1709:Iris
1259:Stye
1154:MeSH
1143:OMIM
1132:9-CM
1094:PMID
1033:4976
1013:PMID
974:PMID
915:PMID
893:1817
866:PMID
807:PMID
765:PMID
747:Cell
716:PMID
680:PMID
628:ISBN
597:PMID
562:PMID
552:ISBN
525:link
505:ISBN
483:PMID
456:PMID
403:ISBN
361:The
256:OPA1
148:and
18:ADOA
2874:DAD
2834:KSS
2782:PCD
1128:ICD
1084:PMC
1076:doi
1005:doi
964:PMC
954:hdl
946:doi
905:PMC
897:doi
856:PMC
846:hdl
838:doi
797:doi
755:doi
751:126
708:doi
670:PMC
662:doi
658:133
620:doi
589:doi
585:108
544:doi
479:164
446:PMC
436:doi
285:).
275:ATP
182:of
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