Article
Bilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the MFF gene.
Ophthalmic genetics - 1 Oct 2023
Kılıçarslan Oğuzhan, Batu Oto Bilge, Yetik Hüseyin, Ağırbaşlı Deniz, Kalaycı Yiğin Aysel, Çelik Gökhan
Abstract excerpt
PURPOSE: Ocular involvement has been shown in many of the primary mitochondrial diseases. Herein, we report a pediatric case of an extraordinary fundus appearance of bilateral plaque-like macular atrophy and hypopigmented flecks with homozygous MFF gene mutation. METHODS: A case report. RESULTS: An eighteen-month-old male infant presented with a lack of object tracking which was recognized in the last few months....
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