Open AccessWeill-Marchesani syndrome associated with retinitis pigmentosa
Author(s) -
Jitendra Jethani,
Anurag Mishra,
Shashikant Shetty,
P Vijayalakshmi
Publication year - 2007
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/0301-4738.30711
Subject(s) - medicine , retinitis pigmentosa , ectopia lentis , ophthalmology , short stature , surgery , marfan syndrome , pediatrics , retinal
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.