Table 1 Characteristics of the four patients with Leber’s congenital amaurosis (LCA) who were included in the present study
From: Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations
BCVA | Visual field (V4e) | Electroretinograms | Clinical examination findings | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Rod | Cone | |||||||||||||
Case | Age gender | Nyctalopia | Nystagmus | Oculo digital sign | OD OS | OD OS | Kerato-conus | Cataract | Macular atrophy or staphyloma | Attenuated vessels | Chorioretinal atrophy | Peripheral pigmentation | ||
1 EYE20 | 7 F | + | + | − | 16/200 20/200 | 5° 5° | Reduced | Not detectable | − | − | − | + | + | + |
(13 years of age) | (12 years of age) | (7 years of age) | ||||||||||||
2 EYE64 | 1 M | + | + | − | 12/200 12/200 | 30° 30° | Subnormal | Not detectable | − | − | − | ± | + | ± |
(7 years of age) | (7 years of age) | (1 year of age) | ||||||||||||
3 EYE65 | 1 M | + | + | − | 4/200 4/200 | 20° 20° | Subnormal | Not detectable | − | − | − | ± | + | ± |
(7 years of age) | (7 years of age) | (1 year of age) | ||||||||||||
4 EYE55 | 9 M | + | + | − | 30/200 30/200 | 90° 90° | Subnormal | Not detectable | − | − | − | − | + | − |
(15 years of age) | (15 years of age) | (9 years of age) | ||||||||||||
