Familial Phenotypic Spectrum of Reis-Bücklers Corneal Dystrophy: A Rare Case

Abstract

Reis-Bücklers corneal dystrophy (RCBD) is a rare, bilateral and autosomal dominant inherited disease that primarily affects superficial corneal layers. It is generally accepted that a mutated TGF-β1 induced protein accumulated in this type of dystophy, but the exact pathophysiological mechanism remains unrevealed.This article aims to report a case of an Indonesian family with Reis-Bücklers corneal dystrophy.Case Illustration shows thirthysix yearold Indonesian male with a complaint of white patches on the cornea for both eyes, accompanied with foreignbody sensation, and blurred vision since young age. At that time of examination, the best corrected visual acuity was 1/60 (OD) and hand movement (OS). Slit-lamp examination of the both eyes revealed geographic opacification on central cornea for both eyes. The same characteristics also found in his siblings, as well as his child. There were various phenotypes severity for each patient based on age of onset. All cases were diagnosed with Reis-Bücklers corneal dystrophy.RCBD diagnosed by its typical clinical features, its unique opacities affect the bowman’s layer and superficial corneal stroma. We reported rare cases of an Indonesian family with typical phenotype trait of RCBD inherited autosomal dominantly, with the specific clinical appreance were opacities that reach the bowman’s layes and some stormal layer of the cornea that tend to worsen by aging and normal endothelial cell density on microscopic specular. The dystrophic corneas were thicker than normal, the value of pediatric patientscorneal thickness less than the adults.