TY - JOUR
T1 - Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita Retinal Vasculopathy in a Family with AD-DKC
AU - Johnson, Charles A.
AU - Hatfield, Mark
AU - Pulido, Jose S.
N1 - Funding Information:
Supported in part by an unrestricted grant from Research to Prevent Blindness, Inc, New York, NY.
PY - 2009/11
Y1 - 2009/11
N2 - 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.
AB - 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.
KW - Dyskeratosis congenita
KW - Genetic anticipation
KW - Retinal vasculopathy
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U2 - 10.3109/13816810903148012
DO - 10.3109/13816810903148012
M3 - Article
C2 - 19852575
AN - SCOPUS:70350446780
SN - 1381-6810
VL - 30
SP - 181
EP - 184
JO - Ophthalmic Genetics
JF - Ophthalmic Genetics
IS - 4
ER -