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
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
Written and medically reviewed by the StethoPrep medical team.