Table 1 of
Ravesh, Mol Vis 2018; 24:679-689.
Table 1.
Family | Patient ID | Gender (M/F) | Age (m/y) | Age at disease onset (m/y) | Visual Acuity | Color Vision | Fundus Examination | Diagnosis |
---|---|---|---|---|---|---|---|---|
A | III: I | F | 7 y | 3 y | CF and CF | Absent | N/A | Bardet Biedl syndrome |
B | III: I | M | 10 y | 5 m | LP and LP | Absent | Pigmentary changes Drusen-like deposits Pallor optic disc Attenuated vessels | Leber congenital Amaurosis |
C | III: I | F | 6 m | 2 m | N/A | Absent | N/A | Familial exudative vitreoretinopathy |
D | III: I | M | 33 y | 8 y | 20/60 and 20/70 | Absent | Bone Spicules Pigmentary changes Pallor optic disc Attenuated vessels | Retinitis Pigmentosa |
E | II: II | M | 30 y | 13 y | CF and CF LP and LP | Present | Macular hyperpigmentation Chorioretinal scars | Stargardt disease |