Table 1 of Panagiotou, Mol Vis 2022; 28:57-69.
A | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|
Family ID | Ethnicity | Function | Globe | Cornea | Iris | Lens | Fundus | Mutation | Reference | |
MEP68 | Pakistani | CF | - | Microcornea | Coloboma | Cataract | Normal | c.547G>C | This paper | |
n=3 | nystagmus | Opacity/Sclerocornea | p.(Asp183His) | |||||||
Vascularization | ||||||||||
F1332 | Turkish | LP | Microphthalmia | Sclerocornea totalis | - | Cataract | [Normal ultrasound] | c.-227_572+235del1034 | This paper | |
n=1 | Cornea plana | |||||||||
Vascularization | ||||||||||
B | ||||||||||
n=2 | Syrian | No LP | Microphthalmia | Opacity | - | nd | Retinal dystrophy | c.532_536del; | [4] | |
Buphthalmos | Optic disc dysplasia [Retinal detachment | p.(Asn178fs) | ||||||||
& Optic disc cupping ultrasound] | ||||||||||
n=2 | Syrian | nd | Anophthalmia Microphthalmia | Sclerocornea | - | Cataract | nd | c.532_536del; | [5] | |
p.(Asn178fs) | ||||||||||
n=3 | Turkish | Low vision, nystagmus | - | nd | Coloboma | - | Pigmented macular atrophy | c.110T>C; | [6] | |
Optic disc coloboma | p.(Leu37Pro) | |||||||||
Chorioretinal coloboma Peripapillary chorioretinal changes | ||||||||||
n=1 | nd | Colour blindness, strabismus | nd | nd | nd | Cataract | Severe coloboma | c.86G>C; | [7] | |
p.(Arg29Pro) |