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    SubjectsOphthalmologyPedigree — Locus Heterogeneity (Retinitis Pigmentosa)
    ClinicalOphthalmology

    Pedigree — Locus Heterogeneity (Retinitis Pigmentosa)

    1 MCQs in Ophthalmology for NEET PG

    1 Hard
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    Sample Questions

    hard

    A 28-year-old man presents with progressive night blindness since age 12, followed by gradual peripheral vision loss. Fundoscopy reveals bone-spicule retinal pigmentation, attenuated arterioles, and waxy optic disc pallor. Full-field ERG shows markedly reduced scotopic responses. Genetic testing identifies a heterozygous mutation in the RHO gene (autosomal dominant inheritance), while his unaffected cousin with identical clinical presentation carries a biallelic mutation in USH2A (autosomal recessive). The phenomenon illustrated by **A** in the diagram—where the same clinical phenotype of retinitis pigmentosa results from mutations in different genes—is best described as which of the following?

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