EFEMP1-associated maculopathy diagnosed through the Irish inherited retinal disease registry: a case report

EFEMP1 -associated maculopathy is a rare autosomal dominant retinal disorder that can resemble age-related macular degeneration. Genetically confirmed cases with detailed multimodal imaging and functional phenotyping remain uncommon. We describe the only molecularly confirmed case identified through the Irish national inherited retinal disease registry at the time of review. A 43-year-old man of Bengali ancestry, assessed in Ireland, presented with a 3-year history of progressive visual loss that had accelerated in the left eye during the preceding 3 months. Multimodal imaging demonstrated bilateral, nearly confluent posterior-pole and peripapillary drusenoid deposits, central hypoautofluorescence, outer-retinal disruption and sub-retinal pigment epithelium material, without haemorrhage, angiographic leakage or intra- or subretinal fluid. Formal perimetry demonstrated dense bilateral central field defects. Full-field electroretinography showed bilateral pan-retinal rod-predominant dysfunction, suggesting possible functional involvement beyond the macula, although this finding requires confirmation. A 28-gene macular-dystrophy panel identified the heterozygous pathogenic EFEMP1 variant NM_001039348.3:c.1033 C > T, p.(Arg345Trp). Accelerated unilateral visual decline prompted an empirical trial comprising three intravitreal bevacizumab injections administered at monthly intervals to the left eye because occult choroidal neovascularisation could not be definitively excluded. Visual acuity and optical coherence tomography findings remained unchanged and treatment was discontinued. Anatomical and visual findings remained stable at the 6-month follow-up. EFEMP1 -associated maculopathy should be considered in adults younger than the typical age of onset of age-related macular degeneration who exhibit extensive radial or peripapillary drusen. Genetic testing can establish the diagnosis, inform counselling and help prevent unnecessary treatment. The rod-predominant pan-retinal dysfunction observed in this patient suggests a potentially broader functional phenotype, although confirmation in additional cases is required.