Clinical and tomographic features of a presumed macular corneal dystrophy in a Moroccan sibling cohort

Corneal dystrophies are a group of rare inherited disorders affecting the cornea. We report four affected siblings from a consanguineous Moroccan family with clinical and anterior segment optical coherence tomography (AS-OCT) findings consistent with presumed macular corneal dystrophy. All patients underwent comprehensive ophthalmological examination and AS-OCT imaging, including central corneal thickness measurements. Symptoms began between 11 and 14 years of age and included progressive visual impairment, photophobia, and tearing. Slit-lamp examination revealed bilateral grayish-white stromal deposits with poorly defined borders and diffuse stromal haze of variable severity, while AS-OCT demonstrated subepithelial hyperreflective deposits associated with diffuse stromal hyperreflectivity and reduced central corneal thickness. Marked intrafamilial phenotypic variability was observed, likely reflecting differences in disease stage and progression. Genetic testing was unavailable. This case series highlights the importance of careful clinical examination combined with AS-OCT for the diagnosis of corneal dystrophies, particularly in settings where genetic testing is not readily accessible.