Purpose: To describe a peculiar flecked-retina phenotype in a young female affected by early-onset retinal dystrophy due to a heterozygous mutation in the cone-rod transcription factor CRX gene.
Case report: A 5-year-old girl presented with poor vision and nystagmus from the first month after birth. Opththalmologic examination at baseline revealed an altered foveal reflex, epiretinal membrane, and yellow fleck-like retinal deposits in the mid- and extreme periphery bilaterally that disappeared after 3 years of follow-up. Electoretinogram was non-recordable in both rods and cones components bilaterally. Genomic sequencing identified a heterozygous missense mutation -c.425A > G (Tyr142Cys) in CRX.
Conclusions: We identified a novel early-onset retinal dystrophy-related heterozygous CRX mutation associated with early and severe rod and cone dysfunction and regressive flecked-retina appearance on ophthalmoscopy.