Familial association of keratoconus and granular corneal dystrophy: The familial case series

Abstract

OBJECTIVE: The aim of the present study was to evaluate the coexistence of bilateral keratoconus and granular cornealdystrophy (GCD) in the members of a family.METHODS: A total of 22 patients were examined in four generations of the family tree in this family screening study. Visualacuity test, biomicroscopic examination, and fundus examination were performed in all patients. The diagnosis of granulardystrophy was based on biomicroscopic examination findings. Corneal topography was performed on the patients diagnosedwith granular dystrophy and other family members aged >5 years with normal examination findings. Corneal photographswere obtained from all patients with granular dystrophy except one case.RESULTS: Keratoconus or subclinical keratoconus was detected in seven cases. In addition, GCD type 1 was found in six ofthe seven cases. All patients diagnosed with keratoconus and granular dystrophy were females. On the other hand, there wasno ophthalmologic problem in the men of the family tree. Although an autosomal dominant inheritance was found, the onsetof the disease only in women suggests that there may be a variant expression.CONCLUSION: The present study showed an association of GCD and keratoconus in four generations of a family. Moreresearch is required to further explain this association.