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Year : 2007  |  Volume : 55  |  Issue : 2  |  Page : 142-143

Weill-Marchesani syndrome associated with retinitis pigmentosa

Pediatric Ophthalmology and Strabismus, Aravind Eye Hospitals, 1, Annanagar, Madurai - 625 020, Tamil Nadu, India

Correspondence Address:
Jitendra Jethani
Pediatric Ophthalmology and Strabismus Department, Aravind Eye Hospitals, 1, Annanagar, Madurai - 625 020, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0301-4738.30711

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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.

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