The First Case Series of Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy in Türkiye Identified with EFEMP1 Gene Mutation

variant was identified in all four patients. Clinical examination revealed numerous drusen-like deposits with a radial distribution in the posterior pole, consistent with the ML/DHRD phenotype. OCT imaging demonstrated subretinal and retinal pigment epithelium alterations, which were more advanced in the 73-year-old female patient. Visual acuity was largely preserved in the youngest patient but markedly reduced in older individuals. This case series describes the first Turkish family with genetically confirmed ML/DHRD. Structural imaging demonstrated progressive macular changes associated with aging, highlighting the value of multimodal imaging in assessing disease course.