Weill-Marchesani syndrome associated with retinitis pigmentosa.
Indian J Ophthalmol
;
2007 Mar-Apr; 55(2): 142-3
Article
in English
| IMSEAR
| ID: sea-70551
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Prognosis
/
Syndrome
/
Abnormalities, Multiple
/
Female
/
Humans
/
Hand Deformities, Congenital
/
Glaucoma, Angle-Closure
/
Retinitis Pigmentosa
/
Lens Subluxation
/
Adolescent
Type of study:
Diagnostic study
/
Prognostic study
Language:
English
Journal:
Indian J Ophthalmol
Year:
2007
Type:
Article
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