ライフサイエンスコーパス: anophthalmia

1 osencephaly) and failure of eye development (anophthalmia).

2 ocular defects, including microphthalmia and anophthalmia.

3 ted with microphthalmia and/or contralateral anophthalmia.

4 s of differing severity, including bilateral anophthalmia.

5 es such as coloboma, microphthalmia, or even anophthalmia.

6 ot support such a pattern of organization in anophthalmia.

7 ession, leading to severe lens hypoplasia or anophthalmia.

8 e to the frustrating condition of congenital anophthalmia.

9 were recently adapted for use in congenital anophthalmia.

10 3;11)(q26.3;p11.2) associated with bilateral anophthalmia.

11 ns of SOX2 in 4 of 35 (11%) individuals with anophthalmia.

12 development of the maxilla, exencephaly and anophthalmia.

13 extensive exencephaly, and microphthalmia or anophthalmia.

14 females), and a group of 5 individuals with anophthalmia (1 female), a condition in which both eyes

15 Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clin

16 up of blind people with bilateral congenital anophthalmia, a condition in which both eyes fail to dev

17 nd of gestation, Ftm (-/-) fetuses displayed anophthalmia, a reduction of the ventral hypothalamus an

18 ference to disorders of the optic chiasm and anophthalmia (absence of the eyes).

19 Approximately 10% of humans with anophthalmia (absent eye) or severe microphthalmia (smal

20 onclude that ALDH1A3 loss of function causes anophthalmia and aberrant eye development in humans and

21 ateral A/M and a simplex case with bilateral anophthalmia and hypoplasia of the optic nerve and optic

22 Anophthalmia and microphthalmia are among the most commo

23 tion sequencing to interrogate patients with anophthalmia and microphthalmia for new causative genes.

24 s changed the ability to identify a cause of anophthalmia and microphthalmia in many individuals.

25 ion by a geneticist for all individuals with anophthalmia and microphthalmia in order to provide appr

26 The etiology of anophthalmia and microphthalmia is diverse, with multipl

27 dvances in identifying the various causes of anophthalmia and microphthalmia.

28 te the role mutations in these genes play in anophthalmia and microphthalmia.

29 s in cortical organization between bilateral anophthalmia and other forms of congenital blindness are

30 evelopmental defects including exencephalia, anophthalmia and severe growth retardation were noted in

31 nophthalmia, we screened 75 individuals with anophthalmia and/or microphthalmia for mutations in the

32 elopmental abnormalities including dwarfism, anophthalmia, and 80% embryonic lethality.

33 s placode, an ocular phenotype that includes anophthalmia, and a complete failure of nasal placode in

34 ding the group classified as microphthalmia, anophthalmia, and coloboma (MAC) and inherited retinal d

35 nital malformations known as microphthalmia, anophthalmia, and coloboma (MAC) are associated with alt

36 study were 141 patients with microphthalmia, anophthalmia, and coloboma disease without a recognized

37 Microphthalmia, anophthalmia, and coloboma form an interrelated spectrum

38 of ophthalmologic genetic disorders such as anophthalmia, aniridia, albinism, anterior segment dysge

39 Both congenital and acquired pediatric anophthalmia are discussed.

40 phthalmic socket is distinguished from adult anophthalmia, because normal socket and facial developme

41 ior segment dysgenesis (ASD), microphthalmia-anophthalmia-coloboma (MAC), corneal dystrophies, and Ax

42 ng glaucoma (ASDA; 59 genes), microphthalmia-anophthalmia-coloboma (MAC; 86 genes), congenital catara

43 utations in three unrelated individuals with Anophthalmia-Esophageal-Genital (AEG) syndrome.

44 in a male affected with congenital bilateral anophthalmia, hypogonadotrophic hypogonadism and growth

45 Although the management of anophthalmia in the child is fraught with challenges and

46 51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability, and rhizomelic sk

47 Three microphthalmia/anophthalmia loci have been identified, and two others h

48 ts in developmental abnormalities, including anophthalmia, microcephaly, cleft palates, and mandibula

49 severe developmental eye defects, including anophthalmia, microphthalmia and cataract, and diminishe

50 Anophthalmia, microphthalmia and coloboma (AMC) comprise

51 with developmental eye disorders, including anophthalmia, microphthalmia and coloboma.

52 evelopmental ocular malformations, including anophthalmia-microphthalmia (AM), are heterogeneous diso

53 , in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demon

54 erms of specific defects, we identified that anophthalmia/microphthalmia (aHR: 2.83, 95% CI: 1.16-6.9

55 Ocular developmental anomalies (ODA) such as anophthalmia/microphthalmia (AM) or anterior segment dys

56 for renal agenesis/hypoplasia (positive) and anophthalmia/microphthalmia and gastroschisis (negative)

57 ption factor, SOX2, alone account for 20% of anophthalmia (no eye) and microphthalmia (small eye) bir

58 2 or PAX6 is associated with microphthalmia, anophthalmia or aniridia.

59 ulation and causes the developmental defects anophthalmia or microphthalmia, similar to human SOX2-de

60 20% of patients with unilateral or bilateral anophthalmia or microphthalmia.

61 were defective in eye development and showed anophthalmia or microphthalmia.

62 ongenital defects, such as microphthalmia or anophthalmia, or a change of cell fate into neural retin

63 tal defects are highly variable, and include anophthalmia, persistence of vitreous vessels, and fusio

64 ng severe cryptophthalmos, microphthalmia or anophthalmia, retinal dysplasia, keratitis, corneal neov

65 ctivity in extrastriate areas was reduced in anophthalmia to the level of cortical areas that are het

66 otypes ranging from a complete lack of eyes (anophthalmia) to defects in the developing lens involvin

67 l development and result in animal models of anophthalmia, we screened 75 individuals with anophthalm