AUTHORS
Olga Zabek, Ioannis Lamprakis, Annekatrin Rickmann, Giacomo Calzetti, Bence György, Hendrik P N Scholl, Maria Della Volpe Waizel
Am J Ophthalmol Case Rep. 2022 Apr 10;26:101527. doi: 10.1016/j.ajoc.2022.101527. eCollection 2022 Jun.
ABSTRACT
PURPOSE: We report a first case of bilateral occult macular dystrophy (OMD) with a c.133C>T (p.Arg45Trp) pathogenic variant in the retinitis pigmentosa 1-like 1 (RP1L1) gene in a patient of Caucasian Swiss decent.
OBSERVATIONS: A 34-year-old man presented with decreased visual acuity known since childhood. Fundus examination of both eyes revealed no pathology other than mildly increased granularity of the foveal retinal pigment epithelium. The full-field electroretinogram (ffERG) presented with normal findings while the multifocal electroretinogram (mfERG) showed severely reduced amplitudes of the foveal response. Optical coherence tomography (OCT) showed foveal outer retinal atrophy. Fundus autofluorescence (FAF) imaging demonstrated near-normal findings with minimal mottling at the posterior pole. The genetic analysis revealed a heterozygous pathogenic variant (c.133C>T, p.Arg45Trp) in the RP1L1 gene.
CONCLUSION AND IMPORTANCE: Our present case suggests that OMD shows a wide range of clinical presentations with a variety of ophthalmological findings, age of disease onset, visual acuity, and genetic diversity.
PMID:35464678 | PMC:PMC9020090 | DOI:10.1016/j.ajoc.2022.101527
