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    SubjectsPathologyLocus Heterogeneity — Retinitis Pigmentosa
    Para-clinicalPathology

    Locus Heterogeneity — Retinitis Pigmentosa

    1 MCQs in Pathology for NEET PG

    1 Hard
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    Sample Questions

    hard

    A 32-year-old Indian man presents with progressive night blindness over the past 5 years, followed by gradual loss of peripheral vision. Fundoscopy reveals waxy pallor of the optic disc, attenuated retinal arterioles, and characteristic bone-spicule pigmentation in the mid-periphery. ERG shows reduced scotopic responses. Genetic testing identifies a mutation in the RHO gene (rhodopsin). His younger brother has an identical clinical presentation but carries a mutation in the ABCA4 gene. The structure marked **A** in the diagram represents the concept that explains why both brothers have the same clinical phenotype despite carrying mutations in different genes. Which of the following best describes this genetic principle?

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