Biallelic occult macular dystrophy.

Purpose: Occult macular dystrophy (OMD) is a cause of visual loss in young adults with a grossly normal fundus appearance. It is considered an autosomal dominant disorder, related to heterozygous pathogenic variants in the gene RP1L1. The purpose of this study is to report a biallelic form of the disease.

Results: A 29-year-old female had undergone neurological workup and ophthalmic examinations for transient visual loss in her left eye over the past two years but there was no definitive diagnosis. The best-corrected visual acuity was 20/30, 20/20. Indirect ophthalmoscopy with a 78D lens revealed subtle central retinal pigment epithelium mottling and optical coherence tomography confirmed subtle central thickening of the ellipsoid zone. Full-field electroretinography was normal, but pattern electroretinography showed decreased p50 responses. OMD was suspected. Retinal gene panel testing was significant only for a homozygous variant in RP1L1 (NM_178857.6: c.3571 G>T; p.Glu1191*). The parents and older brother were unavailable for segregation analysis. By history they did not have visual complaints other than a need for glasses.

Conclusions: This report presents the clinical and genetic findings of a biallelic form of OMD associated with a novel pathogenic variant in RP1L1. It would be of interest to carefully assess macular function in heterozygotes with this variant.