Which pattern of inheritance accounts for the LARGEST proportion of patients with retinitis pigmentosa?

• A Autosomal recessive ✓
• B Autosomal dominant
• C X-linked recessive
• D Mitochondrial maternal transmission

Explanation

Retinitis pigmentosa occurs sporadically in roughly 40 percent of cases, but among identifiable genetic patterns autosomal recessive inheritance is the commonest, accounting for the largest single group. Autosomal dominant forms generally have a later onset and milder course, while X-linked recessive forms are the least frequent but most severe, with early legal blindness. Mitochondrial inheritance is rare. The classic fundus triad remains bone spicule pigmentation, arteriolar attenuation, and waxy pallor of the disc.

Reference: Parsons' Diseases of the Eye, 23rd ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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