67:
162:
170:
776:
43:
1154:
particular concern for individuals with unilateral cases of microphthalmia. With one eye of average size, the asymmetry often becomes much more severe as the child ages. An axial length of less than 16 mm (0.63 in) indicates that a microphthalmic eye's growth will not be sufficient, and intervention will be necessary to reduce the degree of facial asymmetry.
816:. Ultrasound may also be used to determine the presence of any internal eye issues, which may not otherwise be visible. It is possible for individuals with microphthalmia to have some vision in the affected eye(s). For this reason, the vision of infants with microphthalmia should be evaluated early on, even in severe cases. Pediatric vision tests along with
1166:, in the first weeks of life. The conformer is repeatedly replaced with a prothesis of a slightly larger size. This process, which takes place during the first 5 years of life, gradually enlarges the eye socket. Socket expansion through the use of implants of increasing size is another effective strategy.
1169:
After socket expansion is complete, a painted prosthetic eye can be worn for cosmetic reasons. If the microphthalmic eye has functional vision, an affected individual may opt against wearing a painted prothesis. Lenses are also sometimes used for cosmetic purposes, such as a plus lens to enlarge the
185:
disorder in which the globe of the eye is unusually small and structurally disorganized. While the axis of an adult human eye has an average length of about 23.8 mm (0.94 in), a diagnosis of microphthalmia generally corresponds to an axial length below 21 mm (0.83 in) in adults.
1157:
Minimizing facial asymmetry is important for cosmetic and structural reasons. In order to address the size discrepancy of the affected eye(s), it is important to begin eye socket expansion early in life. The face reaches 70% of its adult size by roughly 2 years of age, and 90% of its adult size by
1153:
A key aspect of managing this condition is accounting for the small volume of the eye. The small orbit size characteristic of microphthalmia can impact the growth and structural development of the face after birth. As a result, microphthalmia can cause hemifacial asymmetry. This possibility is a
190:
is about 9â10.5 mm (0.35â0.41 in) in affected newborns and 10.5â12 mm (0.41â0.47 in) in adults with the condition. The presence of a small eye within the orbit can be a normal incidental finding but in many cases it is atypical and results in visual impairment. The
1137:
Microphthalmia cannot be cured. However, there are treatments options to manage the condition and its associated symptoms. When the affected eye(s) display some visual function, a patient's eyesight can be improved (sometimes up to good state) by
783:
Microphthalmia is often diagnosed soon after birth. An initial diagnosis usually occurs after the eyes are inspected through the lids. In addition to visual examinations, measurements of the cornea are used in the diagnosis of this condition. An
2609:
2594:
1178:
Microphthalmia and anophthalmia combined are estimated to occur in about 1 in 10,000 births, though estimates have varied from 2 and 23 in 100,000 births. Approximately 3â11% of all blind children born globally have microphthalmia.
2709:
799:
to conduct a thorough examination within 2 weeks after birth. The ophthalmologist will confirm the preliminary diagnosis and look for signs of other anomalies in both eyes. These abnormalities may include
2702:
1328:
982:
2695:
153:
and nanophthalmia. Although sometimes referred to as 'simple microphthalmia', nanophthalmia is a condition in which the size of the eye is small but no anatomical alterations are present.
149:
in which one (unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations. Microphthalmia is a distinct condition from
1158:
about 5.5 years of age. Additionally, the symmetry fostered by early socket expansion allows for a better prosthetic fit later in life. Typically, an infant begins wearing a
2443:
Roos, Laura; Jensen, Hanne; GrĂžnskov, Karen; Holst, RenĂ©; TĂŒmer, Zeynep (Oct 2016). "Congenital
Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark".
1772:
van Rahden, Vanessa A.; Fernandez-Vizarra, Erika; Alawi, Malik; Brand, Kristina; Fellmann, Florence; Horn, Denise; Zeviani, Massimo; Kutsche, Kerstin (April 2015).
2256:
Blackburn, Patrick R.; Zepeda-Mendoza, Cinthya J.; Kruisselbrink, Teresa M.; Schimmenti, Lisa A.; GarcĂa-Miñaur, Sixto; Palomares, MarĂa; et al. (Sep 2019).
728:
1298:
380:
725:
has been implicated in a substantial number (10â15%) of cases and in many other cases failure to develop the ocular lens often results in microphthalmia.
360:
835:(MCOPS). Approximately 60 to 80% of microphthalmia cases are syndromic. Several types of MCOPS have been recognized based on their genetic causes:
2258:"Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases"
265:
The following genes, many of which are transcription and regulatory factors, have been implicated in microphthalmia, anophthalmia, and coloboma:
2494:
Mai, Cara T.; Isenburg, Jennifer L.; Canfield, Mark A.; Meyer, Robert E.; Correa, Adolfo; Alverson, Clinton J.; et al. (1 November 2019).
1836:) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype"
1323:
1146:. When one of the eyes is unaffected, caution should be taken to guard this 'good' eye and preserve its vision. In these unilateral cases, eye
1051:
3009:
1413:
2384:"Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports"
2262:
2087:
1782:
1745:
1638:"Trends over time in the incidence of congenital anophthalmia, microphthalmia and orbital malformation in England: database study"
1586:"Classification for treatment urgency for the microphthalmia/anophthalmia spectrum using clinical and biometrical characteristics"
795:
When a case of microphthalmia is detected, the patient should visit an eye specialist as soon as possible. It is important for an
207:
which originates much earlier during fetal development. Genetic causes of microphthalmia include chromosomal abnormalities (e.g.
1778:, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome"
2772:
2388:
1338:
892:
247:
239:
1123:
2795:
2197:
Ng, David; Thakker, Nalin; Corcoran, Connie M.; Donnai, Dian; Perveen, Rahat; Schneider, Adele; et al. (April 2004).
1119:
2897:
2315:
Casey, Jillian; Kawaguchi, Riki; Morrissey, Maria; Sun, Hui; McGettigan, Paul; Nielsen, Jens E.; et al. (Dec 2011).
223:
1318:
950:
869:
861:
485:
305:
300:
243:
203:
It has been postulated that microphthalmia arises as a result of interference with postnatal eye growth, in contrast to
1348:
2889:
2730:
1840:
1056:
570:
565:
817:
736:
788:
may also be conducted to confirm whether the axial length of the eye is clinically below average (i.e. at least 2
2979:
1096:
colobomatous microphthalmia-rhizomelic dysplasia syndrome, microphthalmia-coloboma-rhizomelic skeletal dysplasia
575:
2561:
1333:
1080:
colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation, Maine microphthalmos
1001:
microcephaly-microphthalmia ectrodactyly of lower limbs and prognathism (MMEP) syndrome, ViljoenâSmart syndrome
2624:
934:
500:
1830:
Vervoort, V. S.; Viljoen, D.; Smart, R.; Suthers, G.; DuPont, B. R.; Abbott, A.; Schwartz, C. E. (Dec 2002).
2973:
2199:"Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR"
1683:
Bardakjian, Tanya M.; Schneider, Adele (September 2011). "The genetics of anophthalmia and microphthalmia".
174:
1952:
3014:
2777:
2500:
805:
1637:
731:(MITF), located on chromosome 14q32, is associated with one form of isolated microphthalmia (MCOP1). In
227:
219:
1353:
1111:
748:
280:
251:
2687:
1584:
Groot AL, Kuijten MM, Remmers J, Gilani A, Mourits DL, Kraal-Biezen E, et al. (February 2020).
66:
2718:
2613:
1064:
microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects
2787:
2476:
2238:
1933:
1716:
1665:
1009:
789:
752:
645:
75:
195:
of this condition is around 1 in 10,000 births, and it affects roughly 3â11% of blind children.
1421:
831:(MCOP). When occurring in conjunction with other developmental defects, it may be diagnosed as
2809:
2635:
2535:
2517:
2468:
2460:
2425:
2407:
2364:
2346:
2297:
2279:
2230:
2222:
2179:
2161:
2122:
2104:
2042:
2034:
1925:
1917:
1875:
1857:
1809:
1708:
1700:
1657:
1615:
1555:
1506:
1163:
879:
310:
295:
212:
55:
1383:
655:
650:
2767:
2525:
2509:
2452:
2415:
2397:
2354:
2338:
2287:
2271:
2212:
2169:
2153:
2112:
2096:
2024:
1909:
1865:
1849:
1799:
1791:
1692:
1649:
1605:
1597:
1545:
1537:
1496:
1486:
1017:
anophthalmia/microphthalmia and pulmonary hypoplasia, Spear syndrome, MatthewâWood syndrome
763:
in their fur. The identification of the genetics of WS type 2 owes a lot to observations of
760:
60:
1898:"Waardenburg syndrome type 2 caused by mutations in the human microphthalmia ( MITF ) gene"
625:
600:
290:
161:
2832:
2747:
2203:
1734:
1313:
1303:
1143:
910:
SOX2 anophthalmia syndrome, anophthalmia/microphthalmia-esophageal atresia (AEG) syndrome
665:
620:
520:
445:
259:
235:
231:
2321:
mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the
2083:"CUGC for syndromic microphthalmia including next-generation sequencing-based approaches"
2984:
2930:
2925:
2871:
2856:
2848:
2828:
2530:
2495:
2420:
2383:
2359:
2329:
2316:
2292:
2257:
2174:
2141:
2117:
2082:
1870:
1831:
1804:
1773:
1610:
1585:
1550:
1525:
1501:
1474:
1343:
1308:
740:
610:
208:
2618:
145:, 'eye'), also referred as microphthalmos, is a developmental disorder of the
3003:
2948:
2081:
Eintracht, Jonathan; Corton, Marta; FitzPatrick, David; Moosajee, Mariya (May 2020).
1653:
796:
744:
605:
2242:
1720:
1669:
775:
2920:
2915:
2824:
2480:
918:
430:
204:
182:
169:
150:
2664:
2456:
1937:
747:
fluid. Without this fluid, the eye fails to enlarge, resulting in microphthalmia.
739:
prevents this structure from fully differentiating, causing a malformation of the
2629:
2562:
GeneReviews/NCBI/NIH/UW entry on
Microphthalmia with Linear Skin Defects Syndrome
1696:
1526:"Neural crest derivatives in ocular development: discerning the eye of the storm"
2964:
2722:
2670:
1115:
966:
809:
751:
type 2 in humans may also be caused by mutations in MITF The human MITF gene is
435:
2640:
2157:
1795:
2675:
2603:
2556:
2402:
2275:
2100:
1183:
Incidence per 10,000 live births of microphthalmia (MO) and anophthalmia (AO)
785:
495:
475:
275:
192:
42:
17:
2521:
2464:
2411:
2350:
2283:
2226:
2165:
2108:
2038:
1921:
1897:
1861:
1704:
2762:
2757:
2752:
2659:
1159:
1139:
764:
215:
2539:
2472:
2429:
2368:
2301:
2234:
2183:
2126:
2046:
2029:
2012:
1879:
1813:
1712:
1661:
1619:
1559:
1510:
1491:
1929:
1853:
2969:
2879:
2382:
Searle, A.; Shetty, P.; Melov, S. J.; Alahakoon, T. I. (29 August 2018).
1896:
Tassabehji, Mayada; Newton, Valeria E.; Read, Andrew P. (November 1994).
813:
801:
580:
560:
555:
2586:
2496:"National population-based estimates for major birth defects, 2010-2014"
2013:"A practical guide to the management of anophthalmia and microphthalmia"
2861:
2557:
GeneReviews/NCBI/NIH/UW entry on
Anophthalmia / Microphthalmia Overview
2342:
1913:
1541:
1147:
1088:
974:
958:
Bakrania-Ragge syndrome, microphthalmia with brain and digit anomalies
490:
470:
285:
255:
2513:
1601:
2940:
2907:
2739:
2598:
1636:
Dharmasena A, Keenan T, Goldacre R, Hall N, Goldacre MJ (June 2017).
732:
685:
680:
675:
640:
545:
530:
525:
350:
345:
325:
315:
187:
2217:
2198:
2142:"Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes"
1072:
970:
774:
756:
670:
660:
595:
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385:
370:
365:
355:
340:
335:
330:
270:
168:
160:
1295:
Abdominal musculature absent with microphthalmia and joint laxity
823:
If no related symptoms are present, microphthalmia is defined as
2566:
2140:
George, Aman; Cogliati, Tiziana; Brooks, Brian P. (April 2020).
1038:
993:
926:
microphthalmia-ankyloblepharon-intellectual disability syndrome
902:
715:
710:
705:
700:
695:
690:
635:
630:
615:
510:
505:
480:
465:
425:
420:
415:
410:
375:
320:
2691:
146:
2011:
Ragge, N K; Subak-Sharpe, I D; Collin, J R O (October 2007).
246:). Microphthalmia in newborns is sometimes associated with
140:
128:
985:, microphthalmia with linear skin defects (MLS) syndrome
1150:
may be worn to offer a measure of physical protection.
2576:
2957:
2939:
2906:
2888:
2870:
2847:
2817:
2808:
2786:
2738:
2729:
2650:
2580:
1329:
Microphthalmiaâdermal aplasiaâsclerocornea syndrome
755:to the mouse microphthalmia gene (gene symbol mi);
134:
122:
108:
100:
92:
84:
74:
54:
35:
1953:"Facts about Anophthalmia / Microphthalmia | CDC"
1030:microphthalmia and brain atrophy (MOBA) syndrome
2076:
2074:
2072:
2070:
2068:
2066:
2064:
2062:
2060:
2058:
2056:
1825:
1823:
1468:
1466:
1464:
1462:
1460:
1458:
1767:
1765:
1631:
1629:
1579:
1577:
1575:
1573:
1571:
1569:
1456:
1454:
1452:
1450:
1448:
1446:
1444:
1442:
1440:
1438:
729:Microphthalmia-associated transcription factor
2703:
250:or infections during pregnancy, particularly
8:
1530:Birth Defects Research. Part C, Embryo Today
1408:
1406:
1404:
1299:Acorea, microphthalmia and cataract syndrome
820:are typically used to assess visual acuity.
735:, the failure of expression of MITF in the
2814:
2735:
2710:
2696:
2688:
2577:
1957:Centers for Disease Control and Prevention
1473:Verma AS, Fitzpatrick DR (November 2007).
837:
65:
41:
32:
2529:
2419:
2401:
2358:
2291:
2216:
2173:
2116:
2028:
1869:
1803:
1742:Great Ormond Street Hospital for Children
1609:
1549:
1500:
1490:
1378:
1376:
1374:
1372:
1370:
262:(CMV), but the evidence is inconclusive.
2567:OMIM-Online Mendelian Inheritance in Man
1735:"Ocular Conditions Gene Panel (Oculome)"
1181:
1366:
1103:
779:Depiction of Infant with Microphthalmia
2676:Anophthalmia / Microphthalmia Overview
2006:
2004:
2002:
2000:
1998:
1996:
1994:
1992:
1524:Williams AL, Bohnsack BL (June 2015).
1990:
1988:
1986:
1984:
1982:
1980:
1978:
1976:
1974:
1972:
1891:
1889:
7:
2796:Congenital lacrimal duct obstruction
1642:The British Journal of Ophthalmology
2721:malformations and deformations of
2263:European Journal of Human Genetics
2088:European Journal of Human Genetics
1783:American Journal of Human Genetics
186:Additionally, the diameter of the
25:
1479:Orphanet Journal of Rare Diseases
1475:"Anophthalmia and microphthalmia"
1390:. US National Library of Medicine
1685:Current Opinion in Ophthalmology
1654:10.1136/bjophthalmol-2016-308952
759:with mutations in this gene are
104:Genetic or environmental factors
2389:Journal of Medical Case Reports
1751:from the original on 2021-11-04
1339:Oculofaciocardiodental syndrome
1114:; AR: autosomal recessive; XL:
893:oculofaciocardiodental syndrome
248:fetal alcohol spectrum disorder
240:oculofaciocardiodental syndrome
173:Bilateral microphthalmia in an
50:Right unilateral microphthalmia
1414:"Definition of Microphthalmia"
792:below the age-adjusted mean).
1:
2457:10.1080/09286586.2016.1213859
3010:Congenital disorders of eyes
1697:10.1097/ICU.0b013e328349b004
1319:Lenz microphthalmia syndrome
1142:, as a small eye is usually
870:Lenz microphthalmia syndrome
244:Lenz microphthalmia syndrome
141:
129:
1841:Journal of Medical Genetics
942:OTX2-related eye disorders
743:of the eye and drainage of
80:Abnormally small eyeball(s)
3031:
2158:10.1016/j.exer.2020.107940
1796:10.1016/j.ajhg.2015.02.002
737:retinal pigment epithelium
135:
123:
2403:10.1186/s13256-018-1746-4
2276:10.1038/s41431-019-0423-4
2146:Experimental Eye Research
2101:10.1038/s41431-019-0565-4
1259:
1256:
1237:
1218:
1215:
878:
875:
868:
849:
49:
40:
2898:AxenfeldâRieger syndrome
1744:. NHS Foundation Trust.
833:syndromic microphthalmia
224:WolfâHirschhorn syndrome
165:Bilateral microphthalmia
2974:Coloboma of optic nerve
2445:Ophthalmic Epidemiology
1349:WalkerâWarburg syndrome
829:isolated microphthalmia
175:intellectually disabled
112:1 in 10,000 individuals
27:Birth defect of the eye
2778:Marcus Gunn phenomenon
2501:Birth Defects Research
2317:"First implication of
2030:10.1038/sj.eye.6702858
1492:10.1186/1750-1172-2-47
806:optic nerve hypoplasia
780:
178:
166:
1854:10.1136/jmg.39.12.893
847:Causative gene/locus
839:MCOPS classification
778:
767:of MITF-mutant mice.
220:13q deletion syndrome
172:
164:
1590:Acta Ophthalmologica
1354:Waardenburg syndrome
1334:NanceâHoran syndrome
1170:microphthalmic eye.
749:Waardenburg syndrome
252:herpes simplex virus
181:Microphthalmia is a
1184:
840:
790:standard deviations
133:, 'small',
2788:Lacrimal apparatus
2651:External resources
2343:10.1002/humu.21590
1951:CDC (2019-12-05).
1914:10.1038/ng1194-251
1832:"Sorting nexin 3 (
1542:10.1002/bdrc.21095
1194:Incidence (95% CI)
1182:
1162:, or an unpainted
1124:X-linked recessive
838:
818:electrodiagnostics
781:
179:
167:
2997:
2996:
2993:
2992:
2804:
2803:
2685:
2684:
2514:10.1002/bdr2.1589
2508:(18): 1420â1435.
2337:(12): 1417â1426.
2023:(10): 1290â1300.
1602:10.1111/aos.14364
1286:
1285:
1164:ocular prosthesis
1120:X-linked dominant
1100:
1099:
810:retinal dystrophy
226:) or monogenetic
116:
115:
30:Medical condition
16:(Redirected from
3022:
2890:Anterior segment
2815:
2768:Blepharophimosis
2736:
2712:
2705:
2698:
2689:
2578:
2544:
2543:
2533:
2491:
2485:
2484:
2440:
2434:
2433:
2423:
2405:
2379:
2373:
2372:
2362:
2312:
2306:
2305:
2295:
2270:(9): 1379â1388.
2253:
2247:
2246:
2220:
2194:
2188:
2187:
2177:
2137:
2131:
2130:
2120:
2078:
2051:
2050:
2032:
2008:
1967:
1966:
1964:
1963:
1948:
1942:
1941:
1893:
1884:
1883:
1873:
1827:
1818:
1817:
1807:
1769:
1760:
1759:
1757:
1756:
1750:
1739:
1731:
1725:
1724:
1680:
1674:
1673:
1633:
1624:
1623:
1613:
1581:
1564:
1563:
1553:
1521:
1515:
1514:
1504:
1494:
1470:
1433:
1432:
1430:
1429:
1420:. Archived from
1410:
1399:
1398:
1396:
1395:
1384:"Microphthalmia"
1380:
1279:1.91 (1.79â2.03)
1271:1.87 (1.73â2.01)
1263:2.08 (1.90â2.26)
1249:1.00 (0.76â1.24)
1241:1.08 (0.82â1.35)
1222:0.24 (0.13â0.40)
1185:
1126:
1108:
841:
230:disorders (e.g.
144:
138:
137:
132:
126:
125:
70:
69:
61:Medical genetics
45:
33:
21:
3030:
3029:
3025:
3024:
3023:
3021:
3020:
3019:
3000:
2999:
2998:
2989:
2953:
2935:
2902:
2884:
2866:
2843:
2833:Cryptophthalmos
2800:
2782:
2725:
2716:
2686:
2681:
2680:
2646:
2645:
2589:
2575:
2553:
2551:Further reading
2548:
2547:
2493:
2492:
2488:
2442:
2441:
2437:
2381:
2380:
2376:
2314:
2313:
2309:
2255:
2254:
2250:
2204:Nature Genetics
2196:
2195:
2191:
2139:
2138:
2134:
2080:
2079:
2054:
2010:
2009:
1970:
1961:
1959:
1950:
1949:
1945:
1902:Nature Genetics
1895:
1894:
1887:
1848:(12): 893â899.
1829:
1828:
1821:
1771:
1770:
1763:
1754:
1752:
1748:
1737:
1733:
1732:
1728:
1682:
1681:
1677:
1635:
1634:
1627:
1583:
1582:
1567:
1523:
1522:
1518:
1472:
1471:
1436:
1427:
1425:
1412:
1411:
1402:
1393:
1391:
1382:
1381:
1368:
1363:
1358:
1314:Fraser syndrome
1304:CHARGE syndrome
1291:
1176:
1135:
1130:
1129:
1109:
1105:
797:ophthalmologist
773:
741:choroid fissure
720:
260:cytomegalovirus
236:Fraser syndrome
232:CHARGE syndrome
201:
159:
64:
31:
28:
23:
22:
15:
12:
11:
5:
3028:
3026:
3018:
3017:
3012:
3002:
3001:
2995:
2994:
2991:
2990:
2988:
2987:
2985:Norrie disease
2982:
2980:Hydrophthalmos
2977:
2967:
2961:
2959:
2955:
2954:
2952:
2951:
2945:
2943:
2937:
2936:
2934:
2933:
2931:Cornea plana 2
2928:
2926:Cornea plana 1
2923:
2918:
2912:
2910:
2904:
2903:
2901:
2900:
2894:
2892:
2886:
2885:
2883:
2882:
2876:
2874:
2868:
2867:
2865:
2864:
2859:
2857:Ectopia lentis
2853:
2851:
2845:
2844:
2842:
2841:
2839:Microphthalmia
2836:
2829:Cystic eyeball
2821:
2819:
2812:
2806:
2805:
2802:
2801:
2799:
2798:
2792:
2790:
2784:
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2780:
2775:
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2727:
2726:
2717:
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2707:
2700:
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2679:
2678:
2667:
2655:
2654:
2652:
2648:
2647:
2644:
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2606:
2590:
2585:
2584:
2582:
2581:Classification
2574:
2573:External links
2571:
2570:
2569:
2564:
2559:
2552:
2549:
2546:
2545:
2486:
2451:(5): 324â330.
2435:
2374:
2330:Human Mutation
2307:
2248:
2218:10.1038/ng1321
2211:(4): 411â416.
2189:
2132:
2095:(5): 679â690.
2052:
1968:
1943:
1908:(3): 251â255.
1885:
1819:
1790:(4): 640â650.
1774:"Mutations in
1761:
1726:
1691:(5): 309â313.
1675:
1648:(6): 735â739.
1625:
1596:(5): 514â520.
1565:
1516:
1434:
1400:
1365:
1364:
1362:
1359:
1357:
1356:
1351:
1346:
1344:Patau syndrome
1341:
1336:
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1321:
1316:
1311:
1309:Cross syndrome
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1199:
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1189:
1175:
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1128:
1127:
1110:AD: autosomal
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1023:
1019:
1018:
1015:
1012:
1007:
1003:
1002:
999:
996:
991:
987:
986:
983:MIDAS syndrome
980:
977:
964:
960:
959:
956:
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209:Patau syndrome
200:
197:
158:
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119:Microphthalmia
114:
113:
110:
106:
105:
102:
98:
97:
94:
90:
89:
86:
82:
81:
78:
72:
71:
58:
52:
51:
47:
46:
38:
37:
36:Microphthalmia
29:
26:
24:
18:Microphthalmos
14:
13:
10:
9:
6:
4:
3:
2:
3027:
3016:
3015:Rare diseases
3013:
3011:
3008:
3007:
3005:
2986:
2983:
2981:
2978:
2975:
2971:
2968:
2966:
2963:
2962:
2960:
2956:
2950:
2949:Megalopapilla
2947:
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2924:
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1424:on 2011-06-06
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1269:
1265:
1262:
1255:
1251:
1248:
1247:
1243:
1240:
1236:
1232:
1230:0.04 (0â0.13)
1229:
1228:
1224:
1221:
1214:
1210:
1207:
1204:
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1196:
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1004:
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894:
891:
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887:
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874:
871:
865:
863:
860:
857:
856:
852:
850:Inheritance
846:
843:
842:
836:
834:
830:
826:
825:non-syndromic
821:
819:
815:
811:
807:
803:
798:
793:
791:
787:
777:
770:
768:
766:
762:
761:hypopigmented
758:
754:
750:
746:
745:vitreous body
742:
738:
734:
730:
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724:
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73:
68:
62:
59:
57:
53:
48:
44:
39:
34:
19:
2921:Megalocornea
2916:Keratoglobus
2838:
2825:Anophthalmia
2669:
2658:
2634:
2623:
2608:
2593:
2505:
2499:
2489:
2448:
2444:
2438:
2393:
2387:
2377:
2334:
2328:
2322:
2318:
2310:
2267:
2261:
2251:
2208:
2202:
2192:
2149:
2145:
2135:
2092:
2086:
2020:
2016:
1960:. Retrieved
1956:
1946:
1905:
1901:
1845:
1839:
1833:
1787:
1781:
1775:
1753:. Retrieved
1741:
1729:
1688:
1684:
1678:
1645:
1641:
1593:
1589:
1536:(2): 87â95.
1533:
1529:
1519:
1482:
1478:
1426:. Retrieved
1422:the original
1417:
1392:. Retrieved
1387:
1197:Time period
1188:Study region
1177:
1174:Epidemiology
1168:
1156:
1152:
1136:
1106:
832:
828:
824:
822:
794:
782:
727:
722:
721:
264:
205:anophthalmia
202:
180:
157:Presentation
151:anophthalmia
118:
117:
2965:Buphthalmos
2671:GeneReviews
1418:MedicineNet
1388:MedlinePlus
1144:far-sighted
1140:plus lenses
177:22-year-old
85:Usual onset
3004:Categories
2818:Entire eye
2773:Ablepharon
2719:Congenital
2636:DiseasesDB
2396:(1): 250.
2325:phenotype"
2152:: 107940.
1962:2021-04-20
1755:2021-11-04
1428:2009-01-01
1394:2021-11-04
1361:References
1282:2010â2014
1274:2004â2006
1266:1999â2001
1211:1995â2012
786:ultrasound
765:phenotypes
753:homologous
193:prevalence
183:congenital
142:ophthalmos
2763:Distichia
2758:Entropion
2753:Ectropion
2660:eMedicine
2522:2472-1727
2465:1744-5086
2412:1752-1947
2351:1098-1004
2284:1476-5438
2227:1061-4036
2166:1096-0007
2109:1476-5438
2039:0950-222X
1922:1546-1718
1862:1468-6244
1705:1040-8738
1485:(1): 47.
1160:conformer
1133:Treatment
853:Synonyms
771:Diagnosis
228:Mendelian
216:trisomy 9
109:Frequency
56:Specialty
2970:Coloboma
2880:Aniridia
2540:31580536
2473:27552085
2430:30153864
2369:21901792
2302:31053785
2243:23628891
2235:15004558
2184:32032630
2127:31896778
2047:17914432
1880:12471201
1814:25772934
1746:Archived
1721:12373641
1713:21825993
1670:27880982
1662:27601422
1620:32100474
1560:26043871
1511:18039390
1289:See also
1191:Category
1116:X-linked
1112:dominant
919:Xq27-q28
814:cataract
802:coloboma
581:RPGRIP1L
561:RAB3GAP2
556:RAB3GAP1
311:C12orf57
136:áœÏΞαλΌÏÏ
121:(Greek:
96:Lifelong
93:Duration
76:Symptoms
2862:Aphakia
2665:oph/572
2630:D008850
2531:7203968
2481:5101866
2421:6114735
2360:3918001
2293:6777538
2175:7310839
2118:7171178
1930:7874167
1871:1757218
1805:4385192
1776:NDUFB11
1611:7497250
1551:5262495
1502:2246098
1324:MCOPS12
1202:Denmark
1148:glasses
1122:; XLR:
1118:; XLD:
1093:AD, AR
1089:MAB21L2
1085:MCOPS14
1069:MCOPS13
1061:AD, AR
1052:MCOPS12
1035:MCOPS11
1025:unknown
1022:MCOPS10
975:NDUFB11
876:MCOPS2
733:mammals
656:TBC1D32
651:TBC1D20
491:NDUFB11
471:MAB21L2
381:FAM111A
286:ALDH1A3
256:rubella
2941:Retina
2908:Cornea
2748:Ptosis
2740:Eyelid
2731:Adnexa
2538:
2528:
2520:
2479:
2471:
2463:
2428:
2418:
2410:
2367:
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2282:
2241:
2233:
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1936:
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1006:MCOPS9
990:MCOPS8
963:MCOPS7
947:MCOPS6
931:MCOPS5
915:MCOPS4
899:MCOPS3
858:MCOPS1
812:, and
686:TMEM67
681:TMEM98
676:TFAP2A
641:SRD5A3
606:SEMA3E
546:PRSS56
531:POLR1D
526:POLR1C
351:CRYBB2
346:CRYBA4
326:CLDN19
316:CC2D2A
213:mosaic
199:Causes
188:cornea
130:mikros
124:ÎŒÎčÎșÏÏÏ
101:Causes
63:
2958:Other
2810:Globe
2641:29618
2619:743.1
2604:Q11.2
2477:S2CID
2323:STRA6
2319:STRA6
2239:S2CID
1934:S2CID
1749:(PDF)
1738:(PDF)
1717:S2CID
1666:S2CID
1260:AO+MO
1252:2011
1244:1999
1233:2011
1225:1999
1205:AO+MO
1073:HMGB3
1010:STRA6
971:COX7B
862:NAA10
844:Type
757:mouse
671:TENM3
666:TCOF1
661:TBX22
646:STRA6
626:SMOC1
601:SCLT1
596:SALL4
591:SALL2
586:SALL1
551:PTCH1
541:PQBP1
536:PORCN
516:PDE6D
486:NAA10
461:KMT2D
456:KAT6B
451:IGBP1
441:HMGB3
431:GRIP1
406:FREM2
401:FREM1
396:FRAS1
391:FOXL2
386:FNBP4
371:ERCC5
366:ERCC1
356:DHX38
341:CRYAA
336:CRIM1
331:COX7B
291:ATOH7
281:ACTG1
271:ABCB6
88:Birth
2872:Iris
2849:Lens
2723:eyes
2625:MeSH
2614:9-CM
2536:PMID
2518:ISSN
2469:PMID
2461:ISSN
2426:PMID
2408:ISSN
2365:PMID
2347:ISSN
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2105:ISSN
2043:PMID
2035:ISSN
1926:PMID
1918:ISSN
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1858:ISSN
1834:SNX3
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1709:PMID
1701:ISSN
1658:PMID
1616:PMID
1556:PMID
1507:PMID
1057:RARB
1046:N/A
1039:VAX1
994:SNX3
979:XLD
967:HCCS
951:BMP4
935:OTX2
923:XLR
903:SOX2
884:XLR
880:BCOR
723:SOX2
716:ZIC2
711:ZEB2
706:YAP1
701:VSX2
696:VAX1
691:TMX3
636:SOX2
631:SNX3
621:SIX6
616:SIX3
576:RBP4
566:RARB
521:PIGL
511:PAX6
506:PAX2
501:OTX2
481:MFRP
466:LRP2
446:HMX1
436:HCCS
426:GJA1
421:GDF6
416:GDF3
411:FZD5
376:FADD
361:DPYD
321:CHD7
306:BMP7
301:BMP4
296:BCOR
276:ACTB
258:and
2610:ICD
2595:ICD
2526:PMC
2510:doi
2506:111
2453:doi
2416:PMC
2398:doi
2355:PMC
2339:doi
2288:PMC
2272:doi
2213:doi
2170:PMC
2154:doi
2150:193
2113:PMC
2097:doi
2025:doi
2017:Eye
1910:doi
1866:PMC
1850:doi
1800:PMC
1792:doi
1693:doi
1650:doi
1646:101
1606:PMC
1598:doi
1546:PMC
1538:doi
1534:105
1497:PMC
1487:doi
1257:US
1216:UK
1208:1.2
1077:XL
1043:AR
1014:AR
998:AD
955:AD
939:AD
907:AD
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866:XL
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