Background And Objective: This study aims to provide clinical characterization of mutation with a report of novel mutation.
Patients And Methods: This study is a retrospective case series of six patients from a single institution with multimodal imaging, electroretinography, and genetic testing.
Results: Six patients aged 12 to 47 years were identified. Patients with autosomal recessive (AR) variants showed more severe panretinal dystrophy with symmetrical macular involvement and peripheral retinal pigment epithelium atrophy. The autosomal dominant (AD) variants, on the other hand, showed milder macular involvement with bull's eye maculopathy phenotype with minimal peripheral involvement. Among patients with AR variants, a younger patient with aberrant splicing showed a milder phenotype compared with patients with a nonsense mutation and an additional mutation.
Conclusion: The authors describe patients with retinopathy inherited AD and AR inherited patterns. Novel mutations of c.1909C>T and c.2050C>T were identified, leading to truncation of the protein at sequence p.Gln637* and p.Arg684*, respectively. .
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