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

BACKGROUND

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 , which is more frequently associated with occult macular dystrophy (OMD). At least four cases of vitelliform maculopathy have been previously reported; however, the patients were adults, and the disease course over time was not documented.

PURPOSE

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

METHODS

Case report.

RESULTS

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 gene.

CONCLUSIONS

Pathogenic variants in 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.