Table 1 of
Katagiri, Mol Vis 2018; 24:286-296. Table 1 of
Katagiri, Mol Vis 2018; 24:286-296.
Table 1. Clinical and genetic findings for the two patients with biallelic RPE65 variants.
| Family | Patient | Gender | Parental consanguinity | Age of onset (y) | Symptom at onset | Age at first visit (y) | Refractive error, diopters | BCVA at first visit | Age at last visit (y) | BCVA at last visit | Biallelic RPE65 variants | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Paternal variant | Maternal variant | |||||||||||
| Family A | JU#1085 | Female | - | 3 | Night blindness | 23 | R /-3.00 cyl 170° | R 0.1 | 26 | R 0.1 | c.638A>C (p.Q228P) | c.1543C>T (p.R515W) |
| L −0.25 sph/-2.50 cyl 5° | L 0.15 | L 0.2 | ||||||||||
| Family B | JU#1303 | Male | - | 3 | Decreased visual acuity | 11 | R +2.50 sph/-3.00 cyl 180° | R 0.9 | 13 | R 0.7 | c.1028T>A (p.L343*) | c.638A>C (p.Q228P) |
| L +2.50 sph/-3.50 cyl 180° | L 0.7 | L 0.8 | ||||||||||