Ophthalmology · Cornea (Infectious and Non-Infectious Keratitis, Ulcers)

A 30-year-old man presents with progressive bilateral visual loss. Slit-lamp shows branching, refractile lattice lines in the central anterior stroma with clear intervening stroma. Corneal sensation is normal. What is the inheritance pattern of this condition?

  • A Autosomal dominant
  • B Autosomal recessive
  • C X-linked recessive
  • D Mitochondrial
Correct answer: A. Autosomal dominant

Explanation

Lattice corneal dystrophy type I is autosomal dominant, caused by mutations in TGFBI (BIGH3) gene on chromosome 5q31, with amyloid deposition producing branching lattice lines. Granular dystrophy is also autosomal dominant but shows discrete crumb-like opacities. Macular dystrophy is autosomal recessive. The normal corneal sensation distinguishes this from Refsum disease or other systemic causes.

Reference: AAO BCSC Section 8: External Disease and Cornea, 2023-2024 ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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