32:
113:
condition characterised by blepharophimosis, ptosis (upper eyelid drooping), epicanthus inversus (skin folds by the nasal bridge, more prominent lower than upper lid) and telecanthus (widening of the distance between the inner corners of the eyelids). The nasal bridge is flat and there is a
319:
300:
1952:
125:
There are two known types, type 1 and type 2. Although research is limited, it is known that type 1 and 2 are expressed with the same symptoms mentioned above, but type 1 also has the characteristic of
1945:
224:"Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report"
1938:
2257:
106:
40:
64:
is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes. Both the vertical and horizontal
1390:
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Grzechocińska, Barbara; Warzecha, Damian; Wypchło, Maria; Ploski, Rafal; Wielgoś, Mirosław (2019-07-31).
1798:
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68:(eyelid openings) are shortened; the eyes also appear spaced more widely apart as a result, known as
1930:
1961:
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1213:
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834:
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65:
88:(fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge,
2052:
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360:
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81:
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119:
134:
symptoms in patients as young as 15 years old. This is due to the shortening of the
2163:
2158:
2067:
1700:
1528:
909:
824:
732:
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354:
199:"OMIM Entry - # 110100 - BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES"
2207:
1965:
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1307:
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411:
148:
Vignes (1889) probably first described this entity, a dysplasia of the eyelids.
69:
365:
31:
1820:
1783:
1707:
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1639:
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1506:
1442:
1421:
1311:
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2005:
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1995:
1871:
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1653:
1538:
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1518:
1514:
1052:
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540:
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459:
377:
115:
267:
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1910:
1675:
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1737:
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1222:
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920:
527:
292:
2183:
2150:
1982:
1840:
742:
719:
439:
304:
1812:
136:
114:
hypoplastic orbital rim. It may also be associated with lop ears,
892:
454:
343:
198:
1934:
1897:
1293:
696:
425:
381:
109:(BPES), also called blepharophimosis syndrome, which is an
39:
18-year-old female with blepharophimosis as a result of
107:
blepharophimosis, ptosis, epicanthus inversus syndrome
101:
Blepharophimosis, ptosis, epicanthus inversus syndrome
41:
blepharophimosis, ptosis, epicanthus inversus syndrome
16:
Congenital anomaly in which the eye openings are small
282:
2200:
2182:
2149:
2131:
2113:
2090:
2060:
2051:
2029:
1981:
1972:
1864:
1811:
1776:
1736:
1648:
1599:
1564:
1505:
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1361:
1306:
1202:
1043:
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959:
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891:
741:
718:
709:
634:
596:
563:
526:
447:
438:
286:
47:
24:
1386:arteritic anterior (AAION or arteritic AION)
2258:Disorders of eyelid, lacrimal system and orbit
1946:
393:
8:
1460:Chronic progressive external ophthalmoplegia
788:Thygeson's superficial punctate keratopathy
2057:
1978:
1953:
1939:
1931:
1894:
1658:
1447:
1438:
1316:
1303:
1290:
897:
715:
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693:
444:
435:
422:
400:
386:
378:
283:
30:
21:
257:
239:
169:
7:
2039:Congenital lacrimal duct obstruction
1268:Familial exudative vitreoretinopathy
193:
191:
1391:non-arteritic anterior (NAION)
1228:Leber's hereditary optic neuropathy
1964:malformations and deformations of
1263:Persistent tunica vasculosa lentis
14:
991:Polypoidal choroidal vasculopathy
105:Blepharophimosis forms a part of
1096:Central retinal artery occlusion
92:of the eyelids and telecanthus.
1101:Branch retinal artery occlusion
830:Terrien's marginal degeneration
128:premature ovarian insufficiency
1131:Bietti's crystalline dystrophy
1091:Central retinal vein occlusion
820:Pellucid marginal degeneration
1:
1184:Vitelliform macular dystrophy
1075:Posterior vitreous detachment
941:Persistent pupillary membrane
130:(POI) in women, which causes
2253:Congenital disorders of eyes
1671:Leber's congenital amaurosis
1582:Internuclear ophthalmoplegia
1273:Vogt-Koyanagi-Harada disease
1258:Persistent fetal vasculature
1189:Leber's congenital amaurosis
470:Meibomian gland dysfunction
2274:
1194:Birdshot chorioretinopathy
1168:Central serous retinopathy
986:Focal choroidal excavation
859:Corneal neovascularization
676:Subconjunctival hemorrhage
1906:
1893:
1661:
1577:Convergence insufficiency
1450:
1319:
1302:
1289:
1218:Primary juvenile glaucoma
1063:Cytomegalovirus retinitis
705:
692:
478:
434:
421:
412:Diseases of the human eye
241:10.1186/s12881-019-0865-0
38:
29:
2141:Axenfeld–Rieger syndrome
1087:Ocular ischemic syndrome
2217:Coloboma of optic nerve
1587:One and a half syndrome
1341:Foster Kennedy syndrome
84:, features can include
2021:Marcus Gunn phenomenon
1826:Argyll Robertson pupil
626:Periorbital cellulitis
1799:Scintillating scotoma
1465:Kearns–Sayre syndrome
1408:Toxic and nutritional
1381:posterior (PION)
864:Kayser–Fleischer ring
96:Associated conditions
80:In addition to small
1572:Conjugate gaze palsy
1443:Paralytic strabismus
1376:anterior (AION)
1158:Retinitis pigmentosa
1153:Macular degeneration
926:Intermediate uveitis
842:Keratoconjunctivitis
228:BMC Medical Genetics
1877:Childhood blindness
1856:Parinaud's syndrome
1426:Extraocular muscles
1214:Ocular hypertension
1178:Epiretinal membrane
1163:Retinal haemorrhage
1018:Congenital cataract
86:epicanthus inversus
2031:Lacrimal apparatus
1403:Leber's hereditary
1070:Retinal detachment
1023:Childhood cataract
835:Post-LASIK ectasia
616:Orbital cellulitis
565:Lacrimal apparatus
178:"blepharophimosis"
111:autosomal dominant
82:palpebral fissures
66:palpebral fissures
2240:
2239:
2236:
2235:
2047:
2046:
1928:
1927:
1924:
1923:
1889:
1888:
1885:
1884:
1831:Marcus Gunn pupil
1807:
1806:
1728:Visual impairment
1595:
1594:
1501:
1500:
1488:Fourth-nerve (IV)
1416:
1415:
1353:Optic disc drusen
1285:
1284:
1281:
1280:
999:
998:
887:
886:
793:Corneal dystrophy
688:
687:
684:
683:
559:
558:
375:
374:
59:
58:
19:Medical condition
2265:
2133:Anterior segment
2058:
2011:Blepharophimosis
1979:
1955:
1948:
1941:
1932:
1895:
1659:
1650:Vision disorders
1609:Refractive error
1551:Brown's syndrome
1507:Other strabismus
1493:Sixth-nerve (VI)
1483:Oculomotor (III)
1455:Ophthalmoparesis
1448:
1439:
1430:Binocular vision
1363:Optic neuropathy
1329:optic papillitis
1317:
1304:
1291:
1180:(Macular pucker)
898:
879:Band keratopathy
716:
707:
694:
621:Orbital lymphoma
508:Blepharophimosis
498:Blepharochalasis
445:
436:
423:
402:
395:
388:
379:
284:
272:
271:
261:
243:
219:
213:
212:
210:
209:
195:
186:
185:
182:www.mrcophth.com
174:
62:Blepharophimosis
54:Medical genetics
34:
25:Blepharophimosis
22:
2273:
2272:
2268:
2267:
2266:
2264:
2263:
2262:
2243:
2242:
2241:
2232:
2196:
2178:
2145:
2127:
2109:
2086:
2076:Cryptophthalmos
2043:
2025:
1968:
1959:
1929:
1920:
1902:
1881:
1860:
1803:
1772:
1732:
1686:Color blindness
1652:
1644:
1591:
1565:Other binocular
1560:
1497:
1469:
1432:
1428:
1424:
1412:
1357:
1310:
1298:
1277:
1233:Ocular hypotony
1198:
1058:Chorioretinitis
1039:
995:
979:Chorioretinitis
955:
936:Rubeosis iridis
914:
883:
854:Corneal opacity
810:Corneal ectasia
737:
701:
680:
666:Pseudopterygium
630:
592:
555:
522:
518:Ankyloblepharon
474:
430:
417:
416:
406:
376:
371:
370:
295:
281:
276:
275:
221:
220:
216:
207:
205:
197:
196:
189:
176:
175:
171:
166:
158:Ankyloblepharon
154:
146:
103:
98:
78:
20:
17:
12:
11:
5:
2271:
2269:
2261:
2260:
2255:
2245:
2244:
2238:
2237:
2234:
2233:
2231:
2230:
2228:Norrie disease
2225:
2223:Hydrophthalmos
2220:
2210:
2204:
2202:
2198:
2197:
2195:
2194:
2188:
2186:
2180:
2179:
2177:
2176:
2174:Cornea plana 2
2171:
2169:Cornea plana 1
2166:
2161:
2155:
2153:
2147:
2146:
2144:
2143:
2137:
2135:
2129:
2128:
2126:
2125:
2119:
2117:
2111:
2110:
2108:
2107:
2102:
2100:Ectopia lentis
2096:
2094:
2088:
2087:
2085:
2084:
2082:Microphthalmia
2079:
2072:Cystic eyeball
2064:
2062:
2055:
2049:
2048:
2045:
2044:
2042:
2041:
2035:
2033:
2027:
2026:
2024:
2023:
2018:
2013:
2008:
2003:
1998:
1993:
1987:
1985:
1976:
1970:
1969:
1960:
1958:
1957:
1950:
1943:
1935:
1926:
1925:
1922:
1921:
1919:
1918:
1916:Onchocerciasis
1913:
1907:
1904:
1903:
1898:
1891:
1890:
1887:
1886:
1883:
1882:
1880:
1879:
1874:
1868:
1866:
1862:
1861:
1859:
1858:
1853:
1848:
1843:
1838:
1833:
1828:
1823:
1817:
1815:
1809:
1808:
1805:
1804:
1802:
1801:
1796:
1791:
1786:
1780:
1778:
1774:
1773:
1771:
1770:
1768:Quadrantanopia
1765:
1764:
1763:
1758:
1753:
1742:
1740:
1734:
1733:
1731:
1730:
1717:
1716:
1715:
1713:Oguchi disease
1705:
1704:
1703:
1698:
1693:
1683:
1678:
1673:
1668:
1662:
1656:
1646:
1645:
1643:
1642:
1637:
1628:
1623:
1622:
1621:
1616:
1605:
1603:
1597:
1596:
1593:
1592:
1590:
1589:
1584:
1579:
1574:
1568:
1566:
1562:
1561:
1559:
1558:
1556:Duane syndrome
1553:
1548:
1543:
1542:
1541:
1536:
1526:
1521:
1511:
1509:
1503:
1502:
1499:
1498:
1496:
1495:
1490:
1485:
1479:
1477:
1471:
1470:
1468:
1467:
1462:
1457:
1451:
1445:
1436:
1418:
1417:
1414:
1413:
1411:
1410:
1405:
1400:
1395:
1394:
1393:
1388:
1383:
1378:
1367:
1365:
1359:
1358:
1356:
1355:
1350:
1345:
1344:
1343:
1333:
1332:
1331:
1324:Optic neuritis
1320:
1314:
1300:
1299:
1294:
1287:
1286:
1283:
1282:
1279:
1278:
1276:
1275:
1270:
1265:
1260:
1255:
1253:Phthisis bulbi
1250:
1245:
1240:
1235:
1230:
1225:
1220:
1206:
1204:
1200:
1199:
1197:
1196:
1191:
1186:
1181:
1175:
1170:
1165:
1160:
1155:
1150:
1149:
1148:
1143:
1138:
1136:Coats' disease
1133:
1128:
1126:of prematurity
1123:
1118:
1113:
1103:
1098:
1093:
1084:
1079:
1078:
1077:
1067:
1066:
1065:
1060:
1049:
1047:
1041:
1040:
1038:
1037:
1035:Ectopia lentis
1032:
1027:
1026:
1025:
1020:
1009:
1007:
1001:
1000:
997:
996:
994:
993:
988:
983:
982:
981:
971:
965:
963:
957:
956:
954:
953:
948:
943:
938:
933:
928:
923:
917:
915:
913:
912:
907:
901:
895:
893:Vascular tunic
889:
888:
885:
884:
882:
881:
876:
871:
866:
861:
856:
851:
850:
849:
839:
838:
837:
832:
827:
822:
817:
807:
806:
805:
800:
790:
785:
780:
779:
778:
776:Photokeratitis
773:
768:
763:
758:
747:
745:
739:
738:
736:
735:
730:
724:
722:
713:
703:
702:
697:
690:
689:
686:
685:
682:
681:
679:
678:
673:
668:
663:
658:
657:
656:
649:Conjunctivitis
646:
640:
638:
632:
631:
629:
628:
623:
618:
613:
608:
602:
600:
594:
593:
591:
590:
585:
583:Dacryocystitis
580:
575:
573:Dacryoadenitis
569:
567:
561:
560:
557:
556:
554:
553:
548:
543:
538:
532:
530:
524:
523:
521:
520:
515:
510:
505:
500:
495:
490:
485:
479:
476:
475:
473:
472:
467:
462:
457:
451:
449:
442:
432:
431:
426:
419:
418:
415:
414:
408:
407:
405:
404:
397:
390:
382:
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372:
369:
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357:
346:
335:
316:
296:
291:
290:
288:
287:Classification
280:
279:External links
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187:
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18:
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13:
10:
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4:
3:
2:
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2259:
2256:
2254:
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2248:
2229:
2226:
2224:
2221:
2218:
2214:
2211:
2209:
2206:
2205:
2203:
2199:
2193:
2192:Megalopapilla
2190:
2189:
2187:
2185:
2181:
2175:
2172:
2170:
2167:
2165:
2162:
2160:
2157:
2156:
2154:
2152:
2148:
2142:
2139:
2138:
2136:
2134:
2130:
2124:
2121:
2120:
2118:
2116:
2112:
2106:
2103:
2101:
2098:
2097:
2095:
2093:
2089:
2083:
2080:
2077:
2073:
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2066:
2065:
2063:
2059:
2056:
2054:
2050:
2040:
2037:
2036:
2034:
2032:
2028:
2022:
2019:
2017:
2014:
2012:
2009:
2007:
2004:
2002:
1999:
1997:
1994:
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1989:
1988:
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1980:
1977:
1975:
1971:
1967:
1963:
1956:
1951:
1949:
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1942:
1937:
1936:
1933:
1917:
1914:
1912:
1909:
1908:
1905:
1901:
1896:
1892:
1878:
1875:
1873:
1870:
1869:
1867:
1863:
1857:
1854:
1852:
1849:
1847:
1844:
1842:
1839:
1837:
1836:Adie syndrome
1834:
1832:
1829:
1827:
1824:
1822:
1819:
1818:
1816:
1814:
1810:
1800:
1797:
1795:
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1787:
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1779:
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1757:
1754:
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1747:
1744:
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1741:
1739:
1735:
1729:
1725:
1721:
1718:
1714:
1711:
1710:
1709:
1706:
1702:
1699:
1697:
1694:
1692:
1691:Achromatopsia
1689:
1688:
1687:
1684:
1682:
1679:
1677:
1674:
1672:
1669:
1667:
1664:
1663:
1660:
1657:
1655:
1651:
1647:
1641:
1638:
1636:
1632:
1631:Anisometropia
1629:
1627:
1624:
1620:
1617:
1615:
1612:
1611:
1610:
1607:
1606:
1604:
1602:
1598:
1588:
1585:
1583:
1580:
1578:
1575:
1573:
1570:
1569:
1567:
1563:
1557:
1554:
1552:
1549:
1547:
1544:
1540:
1537:
1535:
1532:
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1530:
1527:
1525:
1522:
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1516:
1513:
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1504:
1494:
1491:
1489:
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1478:
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1472:
1466:
1463:
1461:
1458:
1456:
1453:
1452:
1449:
1446:
1444:
1440:
1437:
1435:
1434:Accommodation
1431:
1427:
1423:
1419:
1409:
1406:
1404:
1401:
1399:
1396:
1392:
1389:
1387:
1384:
1382:
1379:
1377:
1374:
1373:
1372:
1369:
1368:
1366:
1364:
1360:
1354:
1351:
1349:
1348:Optic atrophy
1346:
1342:
1339:
1338:
1337:
1334:
1330:
1327:
1326:
1325:
1322:
1321:
1318:
1315:
1313:
1309:
1305:
1301:
1297:
1292:
1288:
1274:
1271:
1269:
1266:
1264:
1261:
1259:
1256:
1254:
1251:
1249:
1248:Keratomycosis
1246:
1244:
1243:Globe rupture
1241:
1239:
1236:
1234:
1231:
1229:
1226:
1224:
1221:
1219:
1215:
1211:
1208:
1207:
1205:
1201:
1195:
1192:
1190:
1187:
1185:
1182:
1179:
1176:
1174:
1173:Macular edema
1171:
1169:
1166:
1164:
1161:
1159:
1156:
1154:
1151:
1147:
1144:
1142:
1139:
1137:
1134:
1132:
1129:
1127:
1124:
1122:
1119:
1117:
1114:
1112:
1109:
1108:
1107:
1104:
1102:
1099:
1097:
1094:
1092:
1088:
1085:
1083:
1082:Retinoschisis
1080:
1076:
1073:
1072:
1071:
1068:
1064:
1061:
1059:
1056:
1055:
1054:
1051:
1050:
1048:
1046:
1042:
1036:
1033:
1031:
1028:
1024:
1021:
1019:
1016:
1015:
1014:
1011:
1010:
1008:
1006:
1002:
992:
989:
987:
984:
980:
977:
976:
975:
972:
970:
969:Choroideremia
967:
966:
964:
962:
958:
952:
949:
947:
946:Iridodialysis
944:
942:
939:
937:
934:
932:
929:
927:
924:
922:
919:
918:
916:
911:
908:
906:
903:
902:
899:
896:
894:
890:
880:
877:
875:
874:Arcus senilis
872:
870:
869:Haab's striae
867:
865:
862:
860:
857:
855:
852:
848:
845:
844:
843:
840:
836:
833:
831:
828:
826:
823:
821:
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816:
813:
812:
811:
808:
804:
801:
799:
796:
795:
794:
791:
789:
786:
784:
783:Corneal ulcer
781:
777:
774:
772:
769:
767:
764:
762:
761:acanthamoebic
759:
757:
754:
753:
752:
749:
748:
746:
744:
740:
734:
731:
729:
726:
725:
723:
721:
717:
714:
712:
711:Fibrous tunic
708:
704:
700:
695:
691:
677:
674:
672:
669:
667:
664:
662:
659:
655:
652:
651:
650:
647:
645:
642:
641:
639:
637:
633:
627:
624:
622:
619:
617:
614:
612:
609:
607:
604:
603:
601:
599:
595:
589:
588:Xerophthalmia
586:
584:
581:
579:
576:
574:
571:
570:
568:
566:
562:
552:
549:
547:
544:
542:
539:
537:
534:
533:
531:
529:
525:
519:
516:
514:
511:
509:
506:
504:
501:
499:
496:
494:
493:Lagophthalmos
491:
489:
486:
484:
481:
480:
477:
471:
468:
466:
463:
461:
458:
456:
453:
452:
450:
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429:
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398:
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389:
384:
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367:
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362:
358:
356:
352:
351:
347:
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341:
340:
336:
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321:
317:
315:
311:
307:
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298:
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294:
289:
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278:
269:
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255:
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233:
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218:
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204:
200:
194:
192:
188:
183:
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173:
170:
163:
159:
156:
155:
151:
149:
143:
141:
139:
138:
133:
129:
123:
121:
120:hypertelorism
117:
112:
108:
100:
95:
93:
91:
87:
83:
75:
73:
71:
67:
63:
55:
52:
50:
46:
43:(BPES) type 1
42:
37:
33:
28:
23:
2164:Megalocornea
2159:Keratoglobus
2068:Anophthalmia
2010:
1726: /
1722: /
1701:Monochromacy
1633: /
1529:Heterophoria
1517: /
1216: /
1212: /
1116:hypertensive
1089: /
910:Ciliary body
825:Keratoglobus
733:Episcleritis
611:Enophthalmos
606:Exophthalmos
551:Trichomegaly
546:Distichiasis
507:
448:Inflammation
359:
348:
337:
318:
299:
231:
227:
217:
206:. Retrieved
202:
181:
172:
147:
135:
124:
104:
79:
76:Presentation
61:
60:
2208:Buphthalmos
1851:Cycloplegia
1794:Photophobia
1789:Hemeralopia
1746:Hemianopsia
1724:Vision loss
1635:Aniseikonia
1626:Astigmatism
1546:Cyclotropia
1524:Hypertropia
1336:Papilledema
1308:Optic nerve
1141:Sickle cell
1121:Purtscher's
1106:Retinopathy
974:Choroiditis
815:Keratoconus
636:Conjunctiva
513:Xanthelasma
465:Blepharitis
70:telecanthus
2247:Categories
2061:Entire eye
2016:Ablepharon
1962:Congenital
1900:Infections
1821:Anisocoria
1784:Asthenopia
1777:subjective
1761:homonymous
1756:bitemporal
1708:Nyctalopia
1696:Dichromacy
1640:Presbyopia
1601:Refraction
1422:Strabismus
1312:Optic disc
671:Pinguecula
536:Trichiasis
361:DiseasesDB
234:(1): 132.
208:2019-12-27
164:References
132:menopausal
2006:Distichia
2001:Entropion
1996:Ectropion
1872:Nystagmus
1846:Mydriasis
1720:Blindness
1666:Amblyopia
1654:Blindness
1614:Hyperopia
1539:Exophoria
1534:Esophoria
1519:Exotropia
1515:Esotropia
1053:Retinitis
751:Keratitis
728:Scleritis
661:Pterygium
541:Madarosis
488:Ectropion
483:Entropion
460:Chalazion
250:1471-2350
116:ectropion
49:Specialty
2213:Coloboma
2123:Aniridia
1911:Trachoma
1676:Diplopia
1371:Ischemic
1296:Pathways
1210:Glaucoma
1111:diabetic
1013:Cataract
951:Synechia
803:Meesmann
771:Exposure
756:herpetic
654:allergic
644:Chemosis
578:Epiphora
268:31366388
203:omim.org
152:See also
2105:Aphakia
1751:binasal
1738:Anopsia
1681:Scotoma
1475:palsies
1238:Red eye
1223:Floater
1030:Aphakia
961:Choroid
931:Hyphema
921:Uveitis
528:Eyelash
355:D016569
259:6670140
144:History
2184:Retina
2151:Cornea
1991:Ptosis
1983:Eyelid
1974:Adnexa
1841:Miosis
1619:Myopia
1398:Kjer's
1146:photic
1045:Retina
798:Fuchs'
766:fungal
743:Cornea
720:Sclera
503:Ptosis
440:Eyelid
428:Adnexa
344:110100
333:743.62
329:374.46
266:
256:
248:
140:gene.
90:ptosis
2201:Other
2053:Globe
1865:Other
1813:Pupil
1203:Other
847:sicca
699:Globe
598:Orbit
366:33297
314:Q10.3
310:H02.5
137:FOXL2
2115:Iris
2092:Lens
1966:eyes
1005:Lens
905:Iris
455:Stye
350:MeSH
339:OMIM
324:9-CM
264:PMID
246:ISSN
118:and
320:ICD
301:ICD
254:PMC
236:doi
2249::
2074:,
364::
353::
342::
331:,
327::
312:,
308::
305:10
262:.
252:.
244:.
232:20
230:.
226:.
201:.
190:^
180:.
122:.
72:.
2219:)
2215:(
2078:)
2070:(
1954:e
1947:t
1940:v
401:e
394:t
387:v
322:-
303:-
293:D
270:.
238::
211:.
184:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
