Novel Heterozygous Variant in RP1L1 Gene With Retinitis Pigmentosa Phenotype: A Case Report
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This report presents a novel heterozygous mutation in RP1L1 resulting in an asymptomatic retinitis pigmentosa (RP) phenotype. A 37-year-old woman with no visual complaints and 20/20 best-corrected visual acuity was incidentally found to have bilateral retinal ... ...