Atakan İŞBİLİR, Ahmet GÜZEL, Mehmet KOCABEY, Ahmet Okay ÇAĞLAYAN, Ömer KARTI, Ziya AYHAN, Ali Osman SAATCI
Türk Oftalmoloji Dergisi - 2026;56(4):269-278
This report aims to describe the clinical characteristics of the first Turkish family diagnosed with Malattia Leventinese/Doyne honeycomb retinal dystrophy (ML/DHRD) associated with an EFEMP1 mutation. Four affected individuals from the same family (one male and three females; aged 25, 51, 53, and 73 years) underwent comprehensive ophthalmological evaluation. The assessment included best-corrected visual acuity, spectral-domain optical coherence tomography (OCT), color fundus photography, and OCT angiography. In addition, genetic analysis for EFEMP1 mutations was performed. The EFEMP1 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.
