Patient demographics, clinical features and genetic details
| ID | Sex | Ethnicity | Age of onset (years) | RE BCVA LogMAR | LE BCVA LogMAR | Diagnosis | Molecular diagnosis | Registered sightimpaired |
|---|---|---|---|---|---|---|---|---|
| (at time of onset) | ||||||||
| 01 | F | Black African | 15–19 | HM | 0.7 | Bilateral vitreoretinal dysplasia with evidence of persistent hyperplastic primary vitreous, anterior segment dysgenesis and primary congenital aphakia, bilateral retinal detachments with secondary glaucoma | No primary findings with research-based whole exome sequencing | Yes—SI |
| 02 | M | White British | 10–14 | PL | PL | Bilateral inherited optic neuropathy, left esotropia, rotatory nystagmus | Primary Leber hereditary optic neuropathy mitochondrial screen was negative | Yes—SSI |
| 03 | M | Black African | 5–9 | 0.0 | 1.6 | Left microphthalmia and optic disc coloboma Left esotropia | Not undertaken | No |
| 04 | M | White British | 10–14 | PL | PL | Juvenile neuronal ceroid lipofuscinosis (Batten disease) | Homozygous CLN3 variant | Yes—SSI |
| 05 | M | White British | 20–24 | 0.8 | 0.8 | Stargardt disease | Compound heterozygous variants in ABCA4:
c.2588 G>C, p.(Gly863Ala) c.1804 C>T, p.(Arg602Trp) | No |
| 06 | F | White British | 20–24 | 1.0 | 1.02 | Stargardt disease | Homozygous ABCA4 variants: c.4577 C>T, p.(Thr1526Met) | No |
| 07 | F | Not given | 5–9 | N/A | N/A | Left congenital anomaly of orbit/phthisis bulbi | N/A | No |
| 08 | M | Not given | 10–14 | 1.40 | 1.0 | Spontaneous left intracranial haemorrhage with subarachnoid and intraventricular component in 2010 with subsequent bilateral optic atrophy, myopia and right exotropia | N/A | No |
| 09 | F | White British | 20–24 | 0.2 | 0.0 | Non-syndromic retinitis pigmentosa with significant peripheral visual field loss | Compound heterozygous USH2A variants: c.9329 C>T, p.(Pro3110Ser) c.1876 C>T, p.(Arg626*) | No |
| 10 | M | Not given | 10–14 | 1.0 | 0.7 | Stargardt disease | Compound heterozygous ABCA4 variants: c.655A>T, p.(Arg219*) c.161 G>A, p.(Cys54Tyr) | Yes—SSI |
| 11 | M | Not given | 10–14 | 0.9 | 0.82 | Stargardt disease | Compound heterozygous ABCA4 variants: c.4773+1 G>T c.1253 T>C, p.(Phe418Ser) | Yes—SSI |
| 12 | M | Asian Pakistani | 5–9 | 0.9 | 0.9 | Stargardt disease | Homozygous ABCA4 variants: c.6729+5_6729+19del | Yes—SI |
| 13 | M | Not given | 0–4 | 0.95 | 1.1 | Leber congenital amaurosis | Homozygous TULP1 variants: c.901 C>T, p.(Glu301*) | No |
F, female gender; LE BCVA, left eye best-corrected visual acuity; M, male gender; N/A, not available; PL, perception of light; RE BCVA, right eye best-corrected visual acuity; SI, sight-impaired; SSI, severely sight-impaired.