Table 1 Clinical characteristics of IRD probands carrying CFAP410 variants
Family_ Proband | Genotypea | Proband_ Research_ID | Age at initial visit; Gender | Ethnicity | Dx | Non-retinal features | Ocular symptoms |
|---|---|---|---|---|---|---|---|
1_II-1 | V1|V1 | OGI3083_ 4678 | 13|M | White (Scottish/ Irish/Italian) | CD | Noned | Light sensitivity, ↓ central vision |
2_II-1 | V1|V1 | OGI3014_ 4600 | 25|F | Whiteb (Irish) | CRD | Noned | Poor vision since age 6; photosensitivity |
3_II-1 | V2|V3 | OGI1446_ 2641 | 32|M | White (Italian) | CRD | Premature birth, no skeletal abnormalities reported or seen on extensive x-rays | ↓ central vision at age 6, ↓ color vision at age 18, ↓ night vision at age 19 |
4_II-1 | V1|V4 | OGI3006_ 4592 | 22|F | n.a. | CRD | Noned | ↓ central vision since childhood; ↓ peripheral vision in teens |
5_II-1 | V5|V6 | OGI3900_ 53031 | 9|M | Japanese | CRD | Noned | ↓ vision at age 1 |
6_II-1 | V7|V7 | CIC07923_F4428 | 51|M | Black (Senegalese) | CRD | Noned | Diagnosis in childhood of nyctalopia and severely decreased VA |
7_II-1 | V8|V9 | OGI3057_ 4647 | 45|M | Indian | CRD | Noned | ↓ central vision since age 18 and night vision since age 30, delayed dark adaptation |
8_II-1 | V1|V10 | OGI2139_ 3573 | 38|F | White (English/Irish) | RCD | Noned | ↓ central vision since age 7; ↓ night and peripheral vision since age 28 |
9_II-1 | V1|V1 | OGI1877_ 3254 | 12|F | White (Irish) | RCD | Noned | Nyctalopia and ↓ peripheral vision since age 4 |
10_II-1 | V1|V1 | CIC04687_F2325 | 38|M | White (Breton) | RCD | Noned | Nyctalopia since early childhood, never had VA above 20/32, progressive visual field constriction, diagnosis of RCD at 14 |
11_II-1 | V1|V1 | CIC03728_F1669 | 63|F | White (Breton) | RCD | Noned | Nyctalopia since teens, progressive visual field constriction, diagnosis of RCD in her 20s |
12_II-1 | V1|V1 | CIC01570_F4189 | 71|F | White (Breton) | RCD | Noned | Diagnosis in childhood of nyctalopia and progressive field constriction |
13_II-1 | V1|V1 | OGI1309_ 2454 | 57|M | White | RCD | Noned | Nyctalopia and ↓ peripheral vision since childhood |
14_II-1 | V1|V1 | OGI1369_ 2543 | 32|M | White (Scottish) | RCD | Thoracic skeletal abnormalitiese | Nyctalopia since childhood |
15_II-1 | V11|V11 | OGI2251_ 3735 | 46|M | Black (Haitianc) | RCD | Noned | Nyctalopia since age 4, ↓ peripheral vision since age 25 and central vision since age 36 |
16_II-1 | V12|V12 | OGI3844_ 52295 | 50|F | White | eoRD | Bilateral hip dysplasia, asymmetric bilateral hearing loss (40 s), early ovarian failure (30) | Nystagmus as an infant. Nyctalopia since early childhood. Never 20/20; ↓ central vision in 20s. ↓ peripheral vision in 40s |
