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CMV retinitis opening a pandora-box of dyskeratosis congenita

Session Details

Session Title: Uveitis

Session Date/Time: Saturday 19/09/2015 | 11:00-12:30

Paper Time: 11:24

Venue: Hermes

First Author: : S.Parchand INDIA

Co Author(s): :    R. Babu   K. Subhashini   R. Srinivasan        

Abstract Details

PURPOSE:To report CMV retinitis as a presenting feature of Dyskeratosis congenita with underlying gastric carcinoma.

Setting:

Tertiary care centre in South India

Methods:

A 45-year-old male presented with diminution of vision in left eye (LE) since 3 months. Right eye examination was normal. Fundoscopy of LE revealed retinitis patches at posterior pole and mid-periphery. PCR of vitreous biopsy sample was positive for CMV. HIV and blood dyscrasias were ruled out.

Results:

Retrospective history revealed significant weight loss in last 6 months but was never investigated. General examination showed reticular hyperpigmentation, ridging of nails and oral leukoplakia revealing the diagnosis of a rare disorder Dyskeratosis congenital (DC). In view of increased risk for mainly hematological and immunological disturbances, solid tumors and pulmonary fibrosis with DC, he was investigated accordingly. His CD4 and CD8 percentage were 7.01% and 83.19% respectively with CD4/CD8 ratio of 0.08 suggestive of impaired lymphocyte function and hence had CMV retinitis. Upper gastrointestinal endoscopy showed multiple polyps in the stomach with antro-pyloric wall thickening. The biopsy from the lesion proved to be superficially invasive well-differentiated adenocarcinoma. Patient subsequently underwent laparoscopic D2 subtotal gastrectomy. Patient is now under regular follow up with gastroenterologist and hematologist every 3 monthly and doing fine. CMV retinitis also healed on treated with oral Valgancyclovir.

Conclusions:

Occurrence of CMV retinitis in absence of conditions like HIV and leukemia as in our case should be thoroughly investigated, as it could be a one of the presenting sign of underlying fatal disorder.

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