Variable expressivity of ocular associations of foveal hypoplasia in a family

Purpose: To show the variable expressivity of ocular associations of foveal hypoplasia in three affected members of a family.

Methods: Three symptomatic members of a family underwent a detailed ophthalmic evaluation including best-corrected distance and near-vision measurement, colour vision assessment, fundus evaluation and fluorescein angiography, horizontal corneal diameter measurement, total axial length measurement, and full-field electroretinogram. Optical coherence tomography was performed in two of the three cases. Pedigree charting was also carried out.

Results: Foveal hypoplasia was shown in all three cases. Pedigree charting showed an autosomal recessive (AR) inheritance pattern of foveal hypoplasia in our series. Microphthalmos and chorioretinal coloboma were found to be variably associated with foveal hypoplasia in this series.

Conclusions: This interesting case series shows that variable expressivity could be found in AR inheritance patterns of foveal hypoplasia.