Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita

Abstract

Background: Dyskeratosis congenita is a rare multisystem bone marrow failure genetic disorder characterized by reticular skin hyperpigmentation, nail dystrophy, and oral leukoplakia. Clinical ophthalmic features in these patients include retinal hemorrhages, retinal vasculopathy, telangiectasia, and macular exudates.

Methods: Complete family medical history, clinical examination, complete blood profile, ophthalmologic examination, fundus color photography and fundus fluorescein angiography, and optical coherence tomography.

Results: We report a case of a young white adult male with a family history of clinically diagnosed autosomal dominant dyskeratosis congenita, who presented with retinal edema and peripheral retinal ischemia. The sister had milder manifestations and the father had very subtle manifestations.

Conclusions: This case is consistent with the previously reported observations of genetic anticipation and variable expressivity in the retinal findings of dyskeratosis congenita.

KEYWORDS::

• Dyskeratosis congenita
• Retinal vasculopathy
• Genetic anticipation

ACKNOWLEDGMENTS

Supported in part by an unrestricted grant from Research to Prevent Blindness, Inc, New York, NY.

Declaration of interest: The authors have no financial interest in dyskeratosis congenita.