Case report of visual quality in a patient with nephronophthisis 12- associated retinopathy secondary to TTC21B mutation.

Abstract excerpt

INTRODUCTION: Nephronophthisis 12 is a rare condition and only two cases have been reported to associate with retinopathy. Herein we present the third case in scientific literature, and the first with vision-quality exams. CLINICAL CASE: The case was a 28-year-old male with the mutations c.626C > T (p.Pro209Leu) and c.1317T > G (p.Tyr439*). Bilateral atrophy of outer retinal layers and retinal pigmented...

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