Evolution of vitelliform maculopathy in a pediatric patient with a homozygous RP1L1 variant

Retinitis pigmentosa 1-like 1 maculopathy is a term that has recently been coined to describe macular diseases with evident ophthalmoscopic findings caused by pathogenic variants in RP1L1, which is more frequently associated with occult macular dystrophy (OMD). At least four cases of vitelliform RP1L1 maculopathy have been previously reported; however, the patients were adults, and the disease course over time was not documented.

To report a case of vitelliform maculopathy in a pediatric patient with a homozygous RP1L1 variant and describe the evolution of his findings over a five-year follow-up.

Case report.

An asymptomatic 8-year-old male presented with outer retinal thickening and foveal subretinal deposits on optical coherence tomography (OCT), which progressed to vitelliform lesions in both eyes. In one eye, the hyperreflective material partially reabsorbed two years after its appearance. Genetic testing identified a homozygous likely pathogenic variant in the RP1L1 gene.

Pathogenic variants in RP1L1 can cause early onset vitelliform macular dystrophy, which does not necessarily represent the evolution of a pre-existing OMD and can exhibit a fluctuating course.