Table 2.
Subject | Gender | Age (years) | Clinical description |
---|---|---|---|
ANO1 | Male | 28 | Bilateral anophthalmia associated with OTX2 mutation; mother carrier; delayed speech and motor development |
ANO2 | Female | 33 | Isolated bilateral anophthalmia; no family history |
ANO3 | Male | 20 | Isolated bilateral anophthalmia associated with dysplastic kidneys and mild systolic murmur; no family history |
ANO4 | Female | 21 | Isolated bilateral anophthalmia, right with orbital cyst; no family history |
ANO5 | Male | 25 | Isolated bilateral anophthalmia; no family history |
ANO6 | Male | 26 | Isolated bilateral anophthalmia; no family history |
EB1 | Female | 51 | Retinopathy of prematurity; low light perception until retina detached at 25 years; 2 months premature |
EB2 | Male | 60 | Retinopathy of prematurity; no light perception; 2 months premature |
EB3 | Female | 36 | Retinopathy of prematurity; low light perception until 14 years; 2 months premature |
EB4 | Male | 30 | Leber's congenital amaurosis; low light perception |
EB5 | Male | 38 | Glaucoma from birth, light perception until 7 years in right eye, no light perception in left eye; unknown etiology, possible rubella virus in pregnancy |
aThe numbering of anophthalmic cases is consistent with that used in previous reports.