Purpose: To report the intra-familial phenotypic variation of granular corneal dystrophy (GCD) across different age groups.
Method: Two cases of GCD belonging to the same family (mother and daughter) were assessed and clinical findings were noted.
Result: An 18-year-old female with complaint of glare, on examination showed brownish granules involving bowman's layer and superficial corneal stroma suggesting a diagnosis of Bowman layer dystrophy. Screening of her mother revealed multiple diffuse white granular opacities with snowflake appearance involving the central cornea. The intervening cornea was clear and limbus was not involved. Focal illumination showed deep stromal involvement. All these findings were typical of GCD. Genetic analysis revealed mutation of TGF beta-1 located on 5q31 which was consistent with our clinical diagnosis of GCD.
Conclusion: Variable clinical presentation of GCD in different age groups can lead to diagnostic dilemma. Screening of family members can be helpful especially when dealing with early cases of GCD.
Keywords: 5q31; Corneal dystrophy; Granular corneal dystrophy; TGF beta 1.