High index of suspicion and complementary studies. Keys in the diagnosis of Fundus Albipunctatus

Abstract

PurposeDue to its low prevalence Fundus albipunctatus (FA) constitutes a diagnostic challenge for any ophthalmologist. FA belongs to the heterogeneous group of "flecked retinal syndromes" characterised by the presence of a whitish‐yellowish stippling, located in the periphery in FA respecting the macular area with normal papilla and vascularisation. It is a congenital form of non‐progressive night blindness with autosomal recessive inheritance mostly caused by mutations in the RDH5 gene. Electroretinogram (ERG) shows an altered rod response in the dark that normalises with scotopic adaptation.MethodsWe present the case of a 12‐year‐old boy who was referred to our department for retinopathy under consideration. Ophthalmological examination showed a visual acuity of unity in both eyes according to the decimal scale, highlighting in the fundus a peripheral whitish stippling respecting the posterior pole with no other alterations. Given the clinical features suggestive of AF, additional tests were performed.ResultsMultifocal and Ganzfeld bell ERG showed altered rod response with recovery of the scotopic adaptation response. There was an absence of autofluorescence (AF) indicating reduced retinal 11‐cis input to the photoreceptors. Fleckes on Optic Coherence Tomography (OCT) appeared as hyper‐reflective lesions. We confirmed the diagnosis by genetic study showing RDH5 mutation. It was not possible to study relatives.ConclusionsFA is a rare pathology whose characteristics must be known in order to suspect and properly diagnose it, distinguishing it from other similar diseases with a worse prognosis that may require a different follow‐up and approach, such as retinitis punctata albescens or fundus flavimaculatus, for which ERG, OCT and FA play a fundamental role.