Table 1

Patient demographics, clinical features and genetic details

IDSexEthnicityAge of onset (years)RE BCVA LogMARLE BCVA LogMARDiagnosisMolecular diagnosisRegistered sightimpaired
(at time of onset)
01FBlack African15–19HM0.7Bilateral vitreoretinal dysplasia with evidence of persistent hyperplastic primary vitreous, anterior segment dysgenesis and primary congenital aphakia, bilateral retinal detachments with secondary glaucomaNo primary findings with research-based whole exome sequencingYes—SI
02MWhite British10–14PLPLBilateral inherited optic neuropathy, left esotropia, rotatory nystagmusPrimary Leber hereditary optic neuropathy mitochondrial screen was negativeYes—SSI
03MBlack African5–90.01.6Left microphthalmia and optic disc coloboma
Left esotropia
Not undertakenNo
04MWhite British10–14PLPLJuvenile neuronal ceroid lipofuscinosis (Batten disease)Homozygous CLN3 variantYes—SSI
05MWhite British20–240.80.8Stargardt diseaseCompound heterozygous variants in ABCA4:
c.2588 G>C, p.(Gly863Ala)
c.1804 C>T, p.(Arg602Trp)
06FWhite British20–241.01.02Stargardt diseaseHomozygous ABCA4 variants:
c.4577 C>T, p.(Thr1526Met)
07FNot given5–9N/AN/ALeft congenital anomaly of orbit/phthisis bulbiN/ANo
08MNot given10–141.401.0Spontaneous left intracranial haemorrhage with subarachnoid and intraventricular component in 2010 with subsequent bilateral optic atrophy, myopia and right exotropiaN/ANo
09FWhite British20–240.20.0Non-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*)
10MNot given10–141.00.7Stargardt diseaseCompound heterozygous ABCA4 variants:
c.655A>T, p.(Arg219*)
c.161 G>A, p.(Cys54Tyr)
11MNot given10–140.90.82Stargardt diseaseCompound heterozygous ABCA4 variants:
c.4773+1 G>T
c.1253 T>C, p.(Phe418Ser)
12MAsian Pakistani5–90.90.9Stargardt diseaseHomozygous ABCA4 variants:
13MNot given0–40.951.1Leber congenital amaurosisHomozygous TULP1 variants:
c.901 C>T, p.(Glu301*)
  • 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.