<i>Weill-Marchesani syndrome</i> associated with retinitis pigmentosa

<i>Weill-Marchesani syndrome</i> associated with retinitis pigmentosa

Retinitis pigmentosa (RP) is associated with a wide variety of ocular and systemic disorders. The Weill-Marchesani syndrome is a multi-system disorder with microspherophakia as one of the common manifestations. A 14-year-old girl presented with short stature, short and stubby fingers, hypodontia and...

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Bibliographic Details
Main Authors: Jethani Jitendra, Mishra Anurag, Shetty Shashikant, Vijayalakshmi P
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2007-01-01
Series:Indian Journal of Ophthalmology
Subjects:
Ectopia lentis
retinitis pigmentosa
Weill-Marchesani
Online Access:http://www.ijo.in/article.asp?issn=0301-4738;year=2007;volume=55;issue=2;spage=142;epage=143;aulast=Jethani
Description
Summary:Retinitis pigmentosa (RP) is associated with a wide variety of ocular and systemic disorders. The Weill-Marchesani syndrome is a multi-system disorder with microspherophakia as one of the common manifestations. A 14-year-old girl presented with short stature, short and stubby fingers, hypodontia and low-set ears. Slit-lamp examination revealed microspherophakia, with shallow anterior chambers with irido and phacodonesis. Ultrasonographic biomicroscopy confirmed the clinical findings and revealed hypoplastic ciliary body. Electroretinogram confirmed the diagnosis of RP. Though RP has been associated with ectopia lentis in earlier reports, this is, to the best of our knowledge, the first case report describing the association of RP and Weill-Marchesani syndrome.
ISSN:0301-4738

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