Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita.
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.
Broad Institute, Cambridge, Massachusetts, USA.
Charles A
CA
Johnson
Mark
M
Hatfield
Jose S
JS
Pulido
D000328:Adult; D020132:Anticipation, Genetic; D019871:Dyskeratosis Congenita / Q000150:complications* / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D007511:Ischemia / Q000175:diagnosis / Q000209:etiology*; D008269:Macular Edema / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D012166:Retinal Hemorrhage / Q000175:diagnosis / Q000209:etiology*; D012171:Retinal Vessels / Q000473:pathology*; D041623:Tomography, Optical Coherence; D055815:Young Adult