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