We describe herein a 45-year-old man who presented with Usher syndrome, a group of autosomal recessive inherited disorders characterized by congenital neurosensorial hearing loss and retinitis pigmentosa (RP), and non-specific lesions in both optic discs. The best corrected visual acuity was 20/25 ETDRS letters, and slip-lamp examination of the anterior segment was unremarkable, bilaterally. In both eyes, fundus examination revealed a waxy optic disc with thin retinal vessels and bone spicule.
Multiple bilateral retinal astrocytic hamartomas in Usher syndrome
Angius A;
2022
Abstract
We describe herein a 45-year-old man who presented with Usher syndrome, a group of autosomal recessive inherited disorders characterized by congenital neurosensorial hearing loss and retinitis pigmentosa (RP), and non-specific lesions in both optic discs. The best corrected visual acuity was 20/25 ETDRS letters, and slip-lamp examination of the anterior segment was unremarkable, bilaterally. In both eyes, fundus examination revealed a waxy optic disc with thin retinal vessels and bone spicule.File in questo prodotto:
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