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

The aim of the present study was to evaluate the coexistence of bilateral keratoconus and granular corneal dystrophy (GCD) in the members of a family.

A total of 22 patients were examined in four generations of the family tree in this family screening study. Visual acuity test, biomicroscopic examination, and fundus examination were performed in all patients. The diagnosis of granular dystrophy was based on biomicroscopic examination findings. Corneal topography was performed on the patients diagnosed with granular dystrophy and other family members aged >5 years with normal examination findings. Corneal photographs were obtained from all patients with granular dystrophy except one case.

Keratoconus or subclinical keratoconus was detected in seven cases. In addition, GCD type 1 was found in six of the seven cases. All patients diagnosed with keratoconus and granular dystrophy were females. On the other hand, there was no ophthalmologic problem in the men of the family tree. Although an autosomal dominant inheritance was found, the onset of the disease only in women suggests that there may be a variant expression.

The present study showed an association of GCD and keratoconus in four generations of a family. More research is required to further explain this association.