56:
151:
159:
765:
32:
1143:
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.
805:. 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
1155:, 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.
1158:
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
174:
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.
1146:
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
1142:
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
179:
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
1126:
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
772:
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
1167:
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.
2598:
2583:
788:
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
2698:
142:
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.
138:
in which one (unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations. Microphthalmia is a distinct condition from
2691:
1147:
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
2432:
Roos, Laura; Jensen, Hanne; GrĂžnskov, Karen; Holst, RenĂ©; TĂŒmer, Zeynep (Oct 2016). "Congenital
Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark".
1317:
971:
2684:
1761:
van Rahden, Vanessa A.; Fernandez-Vizarra, Erika; Alawi, Malik; Brand, Kristina; Fellmann, Florence; Horn, Denise; Zeviani, Massimo; Kutsche, Kerstin (April 2015).
2245:
Blackburn, Patrick R.; Zepeda-Mendoza, Cinthya J.; Kruisselbrink, Teresa M.; Schimmenti, Lisa A.; GarcĂa-Miñaur, Sixto; Palomares, MarĂa; et al. (Sep 2019).
714:
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.
824:(MCOPS). Approximately 60 to 80% of microphthalmia cases are syndromic. Several types of MCOPS have been recognized based on their genetic causes:
2247:"Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases"
254:
The following genes, many of which are transcription and regulatory factors, have been implicated in microphthalmia, anophthalmia, and coloboma:
2483:
Mai, Cara T.; Isenburg, Jennifer L.; Canfield, Mark A.; Meyer, Robert E.; Correa, Adolfo; Alverson, Clinton J.; et al. (1 November 2019).
1825:) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype"
1135:. 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
717:
1287:
369:
1402:
2373:"Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports"
299:
1734:
644:
639:
349:
1627:"Trends over time in the incidence of congenital anophthalmia, microphthalmia and orbital malformation in England: database study"
1575:"Classification for treatment urgency for the microphthalmia/anophthalmia spectrum using clinical and biometrical characteristics"
784:
When a case of microphthalmia is detected, the patient should visit an eye specialist as soon as possible. It is important for an
614:
589:
279:
196:
which originates much earlier during fetal development. Genetic causes of microphthalmia include chromosomal abnormalities (e.g.
1767:, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome"
1312:
1040:
609:
509:
434:
2998:
2186:
Ng, David; Thakker, Nalin; Corcoran, Connie M.; Donnai, Dian; Perveen, Rahat; Schneider, Adele; et al. (April 2004).
2304:
Casey, Jillian; Kawaguchi, Riki; Morrissey, Maria; Sun, Hui; McGettigan, Paul; Nielsen, Jens E.; et al. (Dec 2011).
2784:
192:
It has been postulated that microphthalmia arises as a result of interference with postnatal eye growth, in contrast to
2251:
2076:
1771:
777:
may also be conducted to confirm whether the axial length of the eye is clinically below average (i.e. at least 2
2761:
2377:
1327:
1085:
colobomatous microphthalmia-rhizomelic dysplasia syndrome, microphthalmia-coloboma-rhizomelic skeletal dysplasia
881:
236:
228:
2550:
1069:
colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation, Maine microphthalmos
990:
microcephaly-microphthalmia ectrodactyly of lower limbs and prognathism (MMEP) syndrome, ViljoenâSmart syndrome
1112:
1819:
Vervoort, V. S.; Viljoen, D.; Smart, R.; Suthers, G.; DuPont, B. R.; Abbott, A.; Schwartz, C. E. (Dec 2002).
1108:
2188:"Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR"
1672:
Bardakjian, Tanya M.; Schneider, Adele (September 2011). "The genetics of anophthalmia and microphthalmia".
2886:
1941:
1307:
939:
858:
850:
474:
294:
289:
232:
212:
2878:
2719:
1829:
1626:
1337:
1045:
559:
554:
720:(MITF), located on chromosome 14q32, is associated with one form of isolated microphthalmia (MCOP1). In
806:
725:
2968:
564:
2676:
1573:
Groot AL, Kuijten MM, Remmers J, Gilani A, Mourits DL, Kraal-Biezen E, et al. (February 2020).
55:
2613:
1322:
923:
489:
1053:
microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects
2962:
163:
184:
of this condition is around 1 in 10,000 births, and it affects roughly 3â11% of blind children.
3003:
2766:
2489:
1410:
820:(MCOP). When occurring in conjunction with other developmental defects, it may be diagnosed as
794:
1372:
216:
208:
1006:
anophthalmia/microphthalmia and pulmonary hypoplasia, Spear syndrome, MatthewâWood syndrome
907:
752:
in their fur. The identification of the genetics of WS type 2 owes a lot to observations of
1887:"Waardenburg syndrome type 2 caused by mutations in the human microphthalmia ( MITF ) gene"
1342:
1100:
737:
269:
240:
1723:
899:
SOX2 anophthalmia syndrome, anophthalmia/microphthalmia-esophageal atresia (AEG) syndrome
8:
2707:
2602:
2310:
mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the
2072:"CUGC for syndromic microphthalmia including next-generation sequencing-based approaches"
2776:
2519:
2484:
2465:
2409:
2372:
2348:
2305:
2281:
2246:
2227:
2163:
2130:
2106:
2071:
1922:
1859:
1820:
1793:
1762:
1705:
1654:
1599:
1574:
1539:
1514:
1490:
1463:
998:
778:
741:
634:
64:
2607:
134:, 'eye'), also referred as microphthalmos, is a developmental disorder of the
2798:
2624:
2524:
2506:
2457:
2449:
2414:
2396:
2353:
2335:
2286:
2268:
2219:
2211:
2168:
2150:
2111:
2093:
2070:
Eintracht, Jonathan; Corton, Marta; FitzPatrick, David; Moosajee, Mariya (May 2020).
2031:
2023:
1914:
1906:
1864:
1846:
1798:
1697:
1689:
1646:
1642:
1604:
1544:
1495:
1152:
868:
284:
201:
44:
2231:
1709:
1658:
2756:
2514:
2498:
2469:
2441:
2404:
2386:
2343:
2327:
2276:
2260:
2201:
2158:
2142:
2101:
2085:
2013:
1898:
1854:
1838:
1788:
1780:
1681:
1638:
1594:
1586:
1534:
1526:
1485:
1475:
749:
49:
2653:
2445:
1926:
736:
fluid. Without this fluid, the eye fails to enlarge, resulting in microphthalmia.
728:
prevents this structure from fully differentiating, causing a malformation of the
2821:
2736:
2618:
2551:
GeneReviews/NCBI/NIH/UW entry on
Microphthalmia with Linear Skin Defects Syndrome
2192:
1685:
1515:"Neural crest derivatives in ocular development: discerning the eye of the storm"
1302:
1292:
1132:
654:
248:
224:
220:
740:
type 2 in humans may also be caused by mutations in MITF The human MITF gene is
2973:
2919:
2914:
2860:
2845:
2837:
2817:
2629:
2318:
2146:
1784:
1332:
1297:
729:
599:
197:
2664:
2592:
2545:
2391:
2264:
2244:
2089:
1172:
Incidence per 10,000 live births of microphthalmia (MO) and anophthalmia (AO)
2992:
2937:
2510:
2453:
2400:
2339:
2272:
2215:
2154:
2097:
2027:
1910:
1886:
1850:
1693:
785:
733:
594:
150:
2909:
2904:
2813:
2528:
2461:
2418:
2357:
2290:
2223:
2172:
2115:
2035:
2018:
2001:
1868:
1802:
1701:
1650:
1608:
1548:
1499:
1480:
419:
193:
171:
139:
1918:
1842:
2953:
2711:
2659:
2371:
Searle, A.; Shetty, P.; Melov, S. J.; Alahakoon, T. I. (29 August 2018).
1885:
Tassabehji, Mayada; Newton, Valeria E.; Read, Andrew P. (November 1994).
1104:
955:
798:
424:
2575:
2485:"National population-based estimates for major birth defects, 2010-2014"
2002:"A practical guide to the management of anophthalmia and microphthalmia"
2546:
GeneReviews/NCBI/NIH/UW entry on
Anophthalmia / Microphthalmia Overview
2331:
1902:
1530:
947:
Bakrania-Ragge syndrome, microphthalmia with brain and digit anomalies
774:
764:
484:
464:
264:
181:
2502:
1590:
158:
2751:
2746:
2741:
2706:
2648:
1760:
1625:
Dharmasena A, Keenan T, Goldacre R, Hall N, Goldacre MJ (June 2017).
1148:
1128:
753:
204:
2958:
2868:
2206:
2187:
2131:"Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes"
802:
790:
569:
549:
544:
2069:
31:
2850:
1284:
Abdominal musculature absent with microphthalmia and joint laxity
1136:
1077:
963:
812:
If no related symptoms are present, microphthalmia is defined as
479:
459:
274:
244:
2129:
George, Aman; Cogliati, Tiziana; Brooks, Brian P. (April 2020).
915:
microphthalmia-ankyloblepharon-intellectual disability syndrome
2929:
2896:
2728:
2587:
721:
674:
669:
664:
629:
534:
519:
514:
339:
334:
314:
304:
176:
2000:
Ragge, N K; Subak-Sharpe, I D; Collin, J R O (October 2007).
1061:
959:
745:
659:
649:
584:
579:
574:
539:
529:
524:
504:
449:
444:
439:
429:
394:
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384:
379:
374:
359:
354:
344:
329:
324:
319:
259:
1624:
2555:
1818:
1027:
982:
891:
704:
699:
694:
689:
684:
679:
624:
619:
604:
499:
494:
469:
454:
414:
409:
404:
399:
364:
309:
235:). Microphthalmia in newborns is sometimes associated with
129:
117:
2370:
2303:
1572:
974:, microphthalmia with linear skin defects (MLS) syndrome
135:
2482:
2431:
2185:
1999:
1139:
may be worn to offer a measure of physical protection.
2565:
2128:
1884:
1671:
1318:
Microphthalmiaâdermal aplasiaâsclerocornea syndrome
744:to the mouse microphthalmia gene (gene symbol mi);
123:
111:
1942:"Facts about Anophthalmia / Microphthalmia | CDC"
1019:microphthalmia and brain atrophy (MOBA) syndrome
2990:
2065:
1512:
1461:
2063:
2061:
2059:
2057:
2055:
2053:
2051:
2049:
2047:
2045:
1814:
1812:
1457:
1455:
1453:
1451:
1449:
1447:
1756:
1754:
1620:
1618:
1568:
1566:
1564:
1562:
1560:
1558:
1445:
1443:
1441:
1439:
1437:
1435:
1433:
1431:
1429:
1427:
718:Microphthalmia-associated transcription factor
2692:
239:or infections during pregnancy, particularly
2476:
2425:
2364:
2297:
2238:
2179:
2122:
2042:
1809:
1519:Birth Defects Research. Part C, Embryo Today
1397:
1395:
1393:
1288:Acorea, microphthalmia and cataract syndrome
809:are typically used to assess visual acuity.
1751:
1615:
1555:
1424:
724:, the failure of expression of MITF in the
2699:
2685:
1946:Centers for Disease Control and Prevention
1462:Verma AS, Fitzpatrick DR (November 2007).
54:
30:
2518:
2408:
2390:
2347:
2280:
2205:
2162:
2105:
2017:
1858:
1792:
1731:Great Ormond Street Hospital for Children
1598:
1538:
1489:
1479:
1390:
1367:
1365:
1363:
1361:
1359:
251:(CMV), but the evidence is inconclusive.
2556:OMIM-Online Mendelian Inheritance in Man
1724:"Ocular Conditions Gene Panel (Oculome)"
763:
157:
149:
768:Depiction of Infant with Microphthalmia
2991:
2665:Anophthalmia / Microphthalmia Overview
1995:
1993:
1991:
1989:
1987:
1985:
1983:
1981:
1716:
1513:Williams AL, Bohnsack BL (June 2015).
1356:
2680:
1979:
1977:
1975:
1973:
1971:
1969:
1967:
1965:
1963:
1961:
1880:
1878:
2785:Congenital lacrimal duct obstruction
1631:The British Journal of Ophthalmology
1939:
1093:
13:
2710:malformations and deformations of
2539:
2252:European Journal of Human Genetics
2077:European Journal of Human Genetics
1958:
1875:
1772:American Journal of Human Genetics
175:Additionally, the diameter of the
14:
3015:
2561:
1468:Orphanet Journal of Rare Diseases
1464:"Anophthalmia and microphthalmia"
1379:. US National Library of Medicine
1674:Current Opinion in Ophthalmology
1643:10.1136/bjophthalmol-2016-308952
748:with mutations in this gene are
93:Genetic or environmental factors
2378:Journal of Medical Case Reports
1933:
1740:from the original on 2021-11-04
1328:Oculofaciocardiodental syndrome
1162:
1103:; AR: autosomal recessive; XL:
882:oculofaciocardiodental syndrome
237:fetal alcohol spectrum disorder
229:oculofaciocardiodental syndrome
162:Bilateral microphthalmia in an
145:
39:Right unilateral microphthalmia
1665:
1506:
1403:"Definition of Microphthalmia"
781:below the age-adjusted mean).
1:
2446:10.1080/09286586.2016.1213859
1349:
2999:Congenital disorders of eyes
1686:10.1097/ICU.0b013e328349b004
1308:Lenz microphthalmia syndrome
1131:, as a small eye is usually
1121:
859:Lenz microphthalmia syndrome
759:
233:Lenz microphthalmia syndrome
130:
118:
7:
1830:Journal of Medical Genetics
1277:
931:OTX2-related eye disorders
732:of the eye and drainage of
69:Abnormally small eyeball(s)
10:
3020:
2147:10.1016/j.exer.2020.107940
1785:10.1016/j.ajhg.2015.02.002
726:retinal pigment epithelium
124:
112:
2946:
2928:
2895:
2877:
2859:
2836:
2806:
2797:
2775:
2727:
2718:
2639:
2569:
2392:10.1186/s13256-018-1746-4
2265:10.1038/s41431-019-0423-4
2135:Experimental Eye Research
2090:10.1038/s41431-019-0565-4
1248:
1245:
1226:
1207:
1204:
867:
864:
857:
838:
187:
97:
89:
81:
73:
63:
43:
38:
29:
24:
2887:AxenfeldâRieger syndrome
1733:. NHS Foundation Trust.
822:syndromic microphthalmia
213:WolfâHirschhorn syndrome
154:Bilateral microphthalmia
2963:Coloboma of optic nerve
2434:Ophthalmic Epidemiology
1338:WalkerâWarburg syndrome
818:isolated microphthalmia
164:intellectually disabled
101:1 in 10,000 individuals
16:Birth defect of the eye
2767:Marcus Gunn phenomenon
2490:Birth Defects Research
2306:"First implication of
2019:10.1038/sj.eye.6702858
1481:10.1186/1750-1172-2-47
795:optic nerve hypoplasia
769:
167:
155:
1843:10.1136/jmg.39.12.893
836:Causative gene/locus
828:MCOPS classification
767:
756:of MITF-mutant mice.
209:13q deletion syndrome
161:
153:
1579:Acta Ophthalmologica
1343:Waardenburg syndrome
1323:NanceâHoran syndrome
1159:microphthalmic eye.
738:Waardenburg syndrome
241:herpes simplex virus
170:Microphthalmia is a
1173:
829:
779:standard deviations
122:, 'small',
2777:Lacrimal apparatus
2640:External resources
2332:10.1002/humu.21590
1940:CDC (2019-12-05).
1903:10.1038/ng1194-251
1821:"Sorting nexin 3 (
1531:10.1002/bdrc.21095
1183:Incidence (95% CI)
1171:
1151:, or an unpainted
1113:X-linked recessive
827:
807:electrodiagnostics
770:
168:
156:
2986:
2985:
2982:
2981:
2793:
2792:
2674:
2673:
2503:10.1002/bdr2.1589
2497:(18): 1420â1435.
2326:(12): 1417â1426.
2012:(10): 1290â1300.
1591:10.1111/aos.14364
1275:
1274:
1153:ocular prosthesis
1109:X-linked dominant
1089:
1088:
799:retinal dystrophy
215:) or monogenetic
105:
104:
19:Medical condition
3011:
2879:Anterior segment
2804:
2803:
2757:Blepharophimosis
2725:
2724:
2701:
2694:
2687:
2678:
2677:
2567:
2566:
2533:
2532:
2522:
2480:
2474:
2473:
2429:
2423:
2422:
2412:
2394:
2368:
2362:
2361:
2351:
2301:
2295:
2294:
2284:
2259:(9): 1379â1388.
2242:
2236:
2235:
2209:
2183:
2177:
2176:
2166:
2126:
2120:
2119:
2109:
2067:
2040:
2039:
2021:
1997:
1956:
1955:
1953:
1952:
1937:
1931:
1930:
1882:
1873:
1872:
1862:
1816:
1807:
1806:
1796:
1758:
1749:
1748:
1746:
1745:
1739:
1728:
1720:
1714:
1713:
1669:
1663:
1662:
1622:
1613:
1612:
1602:
1570:
1553:
1552:
1542:
1510:
1504:
1503:
1493:
1483:
1459:
1422:
1421:
1419:
1418:
1409:. Archived from
1399:
1388:
1387:
1385:
1384:
1373:"Microphthalmia"
1369:
1268:1.91 (1.79â2.03)
1260:1.87 (1.73â2.01)
1252:2.08 (1.90â2.26)
1238:1.00 (0.76â1.24)
1230:1.08 (0.82â1.35)
1211:0.24 (0.13â0.40)
1174:
1170:
1115:
1097:
830:
826:
219:disorders (e.g.
133:
127:
126:
121:
115:
114:
59:
58:
50:Medical genetics
34:
22:
21:
3019:
3018:
3014:
3013:
3012:
3010:
3009:
3008:
2989:
2988:
2987:
2978:
2942:
2924:
2891:
2873:
2855:
2832:
2822:Cryptophthalmos
2789:
2771:
2714:
2705:
2675:
2670:
2669:
2635:
2634:
2578:
2564:
2542:
2540:Further reading
2537:
2536:
2481:
2477:
2430:
2426:
2369:
2365:
2302:
2298:
2243:
2239:
2193:Nature Genetics
2184:
2180:
2127:
2123:
2068:
2043:
1998:
1959:
1950:
1948:
1938:
1934:
1891:Nature Genetics
1883:
1876:
1837:(12): 893â899.
1817:
1810:
1759:
1752:
1743:
1741:
1737:
1726:
1722:
1721:
1717:
1670:
1666:
1623:
1616:
1571:
1556:
1511:
1507:
1460:
1425:
1416:
1414:
1401:
1400:
1391:
1382:
1380:
1371:
1370:
1357:
1352:
1347:
1303:Fraser syndrome
1293:CHARGE syndrome
1280:
1165:
1124:
1119:
1118:
1098:
1094:
786:ophthalmologist
762:
730:choroid fissure
709:
249:cytomegalovirus
225:Fraser syndrome
221:CHARGE syndrome
190:
148:
53:
20:
17:
12:
11:
5:
3017:
3007:
3006:
3001:
2984:
2983:
2980:
2979:
2977:
2976:
2974:Norrie disease
2971:
2969:Hydrophthalmos
2966:
2956:
2950:
2948:
2944:
2943:
2941:
2940:
2934:
2932:
2926:
2925:
2923:
2922:
2920:Cornea plana 2
2917:
2915:Cornea plana 1
2912:
2907:
2901:
2899:
2893:
2892:
2890:
2889:
2883:
2881:
2875:
2874:
2872:
2871:
2865:
2863:
2857:
2856:
2854:
2853:
2848:
2846:Ectopia lentis
2842:
2840:
2834:
2833:
2831:
2830:
2828:Microphthalmia
2825:
2818:Cystic eyeball
2810:
2808:
2801:
2795:
2794:
2791:
2790:
2788:
2787:
2781:
2779:
2773:
2772:
2770:
2769:
2764:
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2731:
2722:
2716:
2715:
2704:
2703:
2696:
2689:
2681:
2672:
2671:
2668:
2667:
2656:
2644:
2643:
2641:
2637:
2636:
2633:
2632:
2621:
2610:
2595:
2579:
2574:
2573:
2571:
2570:Classification
2563:
2562:External links
2560:
2559:
2558:
2553:
2548:
2541:
2538:
2535:
2534:
2475:
2440:(5): 324â330.
2424:
2363:
2319:Human Mutation
2296:
2237:
2207:10.1038/ng1321
2200:(4): 411â416.
2178:
2121:
2084:(5): 679â690.
2041:
1957:
1932:
1897:(3): 251â255.
1874:
1808:
1779:(4): 640â650.
1763:"Mutations in
1750:
1715:
1680:(5): 309â313.
1664:
1637:(6): 735â739.
1614:
1585:(5): 514â520.
1554:
1505:
1423:
1389:
1354:
1353:
1351:
1348:
1346:
1345:
1340:
1335:
1333:Patau syndrome
1330:
1325:
1320:
1315:
1310:
1305:
1300:
1298:Cross syndrome
1295:
1290:
1285:
1281:
1279:
1276:
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1188:
1187:
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1164:
1161:
1123:
1120:
1117:
1116:
1099:AD: autosomal
1091:
1090:
1087:
1086:
1083:
1080:
1075:
1071:
1070:
1067:
1064:
1059:
1055:
1054:
1051:
1048:
1043:
1037:
1036:
1033:
1030:
1025:
1021:
1020:
1017:
1015:
1012:
1008:
1007:
1004:
1001:
996:
992:
991:
988:
985:
980:
976:
975:
972:MIDAS syndrome
969:
966:
953:
949:
948:
945:
942:
937:
933:
932:
929:
926:
921:
917:
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905:
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327:
322:
317:
312:
307:
302:
297:
292:
287:
282:
277:
272:
267:
262:
256:
198:Patau syndrome
189:
186:
147:
144:
108:Microphthalmia
103:
102:
99:
95:
94:
91:
87:
86:
83:
79:
78:
75:
71:
70:
67:
61:
60:
47:
41:
40:
36:
35:
27:
26:
25:Microphthalmia
18:
15:
9:
6:
4:
3:
2:
3016:
3005:
3004:Rare diseases
3002:
3000:
2997:
2996:
2994:
2975:
2972:
2970:
2967:
2964:
2960:
2957:
2955:
2952:
2951:
2949:
2945:
2939:
2938:Megalopapilla
2936:
2935:
2933:
2931:
2927:
2921:
2918:
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2913:
2911:
2908:
2906:
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2867:
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2600:
2596:
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2208:
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2199:
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1413:on 2011-06-06
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1259:
1258:
1254:
1251:
1244:
1240:
1237:
1236:
1232:
1229:
1225:
1221:
1219:0.04 (0â0.13)
1218:
1217:
1213:
1210:
1203:
1199:
1196:
1193:
1190:
1189:
1185:
1182:
1179:
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1042:
1039:
1038:
1034:
1031:
1029:
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1018:
1016:
1013:
1010:
1009:
1005:
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1000:
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994:
993:
989:
986:
984:
981:
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977:
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965:
961:
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927:
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890:
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877:
876:
872:
870:
863:
860:
854:
852:
849:
846:
845:
841:
839:Inheritance
835:
832:
831:
825:
823:
819:
815:
814:non-syndromic
810:
808:
804:
800:
796:
792:
787:
782:
780:
776:
766:
757:
755:
751:
750:hypopigmented
747:
743:
739:
735:
734:vitreous body
731:
727:
723:
719:
715:
713:
706:
703:
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688:
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541:
538:
536:
533:
531:
528:
526:
523:
521:
518:
516:
513:
511:
508:
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501:
498:
496:
493:
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486:
483:
481:
478:
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461:
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451:
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436:
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431:
428:
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185:
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165:
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143:
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120:
109:
100:
96:
92:
88:
84:
80:
76:
72:
68:
66:
62:
57:
51:
48:
46:
42:
37:
33:
28:
23:
2910:Megalocornea
2905:Keratoglobus
2827:
2814:Anophthalmia
2658:
2647:
2623:
2612:
2597:
2582:
2494:
2488:
2478:
2437:
2433:
2427:
2382:
2376:
2366:
2323:
2317:
2311:
2307:
2299:
2256:
2250:
2240:
2197:
2191:
2181:
2138:
2134:
2124:
2081:
2075:
2009:
2005:
1949:. Retrieved
1945:
1935:
1894:
1890:
1834:
1828:
1822:
1776:
1770:
1764:
1742:. Retrieved
1730:
1718:
1677:
1673:
1667:
1634:
1630:
1582:
1578:
1525:(2): 87â95.
1522:
1518:
1508:
1471:
1467:
1415:. Retrieved
1411:the original
1406:
1381:. Retrieved
1376:
1186:Time period
1177:Study region
1166:
1163:Epidemiology
1157:
1145:
1141:
1125:
1095:
821:
817:
813:
811:
783:
771:
716:
711:
710:
253:
194:anophthalmia
191:
169:
146:Presentation
140:anophthalmia
107:
106:
2954:Buphthalmos
2660:GeneReviews
1407:MedicineNet
1377:MedlinePlus
1133:far-sighted
1129:plus lenses
166:22-year-old
74:Usual onset
2993:Categories
2807:Entire eye
2762:Ablepharon
2708:Congenital
2625:DiseasesDB
2385:(1): 250.
2314:phenotype"
2141:: 107940.
1951:2021-04-20
1744:2021-11-04
1417:2009-01-01
1383:2021-11-04
1350:References
1271:2010â2014
1263:2004â2006
1255:1999â2001
1200:1995â2012
775:ultrasound
754:phenotypes
742:homologous
182:prevalence
172:congenital
131:ophthalmos
2752:Distichia
2747:Entropion
2742:Ectropion
2649:eMedicine
2511:2472-1727
2454:1744-5086
2401:1752-1947
2340:1098-1004
2273:1476-5438
2216:1061-4036
2155:1096-0007
2098:1476-5438
2028:0950-222X
1911:1546-1718
1851:1468-6244
1694:1040-8738
1474:(1): 47.
1149:conformer
1122:Treatment
842:Synonyms
760:Diagnosis
217:Mendelian
205:trisomy 9
98:Frequency
45:Specialty
2959:Coloboma
2869:Aniridia
2529:31580536
2462:27552085
2419:30153864
2358:21901792
2291:31053785
2232:23628891
2224:15004558
2173:32032630
2116:31896778
2036:17914432
1869:12471201
1803:25772934
1735:Archived
1710:12373641
1702:21825993
1659:27880982
1651:27601422
1609:32100474
1549:26043871
1500:18039390
1278:See also
1180:Category
1105:X-linked
1101:dominant
908:Xq27-q28
803:cataract
791:coloboma
570:RPGRIP1L
550:RAB3GAP2
545:RAB3GAP1
300:C12orf57
125:áœÏΞαλΌÏÏ
110:(Greek:
85:Lifelong
82:Duration
65:Symptoms
2851:Aphakia
2654:oph/572
2619:D008850
2520:7203968
2470:5101866
2410:6114735
2349:3918001
2282:6777538
2164:7310839
2107:7171178
1919:7874167
1860:1757218
1794:4385192
1765:NDUFB11
1600:7497250
1540:5262495
1491:2246098
1313:MCOPS12
1191:Denmark
1137:glasses
1111:; XLR:
1107:; XLD:
1082:AD, AR
1078:MAB21L2
1074:MCOPS14
1058:MCOPS13
1050:AD, AR
1041:MCOPS12
1024:MCOPS11
1014:unknown
1011:MCOPS10
964:NDUFB11
865:MCOPS2
722:mammals
645:TBC1D32
640:TBC1D20
480:NDUFB11
460:MAB21L2
370:FAM111A
275:ALDH1A3
245:rubella
2930:Retina
2897:Cornea
2737:Ptosis
2729:Eyelid
2720:Adnexa
2527:
2517:
2509:
2468:
2460:
2452:
2417:
2407:
2399:
2356:
2346:
2338:
2289:
2279:
2271:
2230:
2222:
2214:
2171:
2161:
2153:
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675:TMEM67
670:TMEM98
665:TFAP2A
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515:POLR1C
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188:Causes
177:cornea
119:mikros
113:ÎŒÎčÎșÏÏÏ
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2799:Globe
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2608:743.1
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2308:STRA6
2228:S2CID
1923:S2CID
1738:(PDF)
1727:(PDF)
1706:S2CID
1655:S2CID
1249:AO+MO
1241:2011
1233:1999
1222:2011
1214:1999
1194:AO+MO
1062:HMGB3
999:STRA6
960:COX7B
851:NAA10
833:Type
746:mouse
660:TENM3
655:TCOF1
650:TBX22
635:STRA6
615:SMOC1
590:SCLT1
585:SALL4
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575:SALL1
540:PTCH1
530:PQBP1
525:PORCN
505:PDE6D
475:NAA10
450:KMT2D
445:KAT6B
440:IGBP1
430:HMGB3
420:GRIP1
395:FREM2
390:FREM1
385:FRAS1
380:FOXL2
375:FNBP4
360:ERCC5
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345:DHX38
330:CRYAA
325:CRIM1
320:COX7B
280:ATOH7
270:ACTG1
260:ABCB6
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1496:PMID
1046:RARB
1035:N/A
1028:VAX1
983:SNX3
968:XLD
956:HCCS
940:BMP4
924:OTX2
912:XLR
892:SOX2
873:XLR
869:BCOR
712:SOX2
705:ZIC2
700:ZEB2
695:YAP1
690:VSX2
685:VAX1
680:TMX3
625:SOX2
620:SNX3
610:SIX6
605:SIX3
565:RBP4
555:RARB
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500:PAX6
495:PAX2
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425:HCCS
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410:GDF6
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365:FADD
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295:BMP7
290:BMP4
285:BCOR
265:ACTB
247:and
2599:ICD
2584:ICD
2515:PMC
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2202:doi
2159:PMC
2143:doi
2139:193
2102:PMC
2086:doi
2014:doi
2006:Eye
1899:doi
1855:PMC
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1789:PMC
1781:doi
1682:doi
1639:doi
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