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Title: Weill-Marchesani syndrome associated with retinitis pigmentosa.
Authors: Jethani, Jitendra
Mishra, Anurag
Shetty, Shashikant
Vijayalakshmi, P
Issue Date: 27-Mar-2007
Citation: Jethani J, Mishra A, Shetty S, Vijayalakshmi P. Weill-Marchesani syndrome associated with retinitis pigmentosa. Indian Journal of Ophthalmology. 2007 Mar-Apr; 55(2): 142-3
Abstract: 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.
Appears in Collections:Indian Journal of Ophthalmology

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