title: Weill-Marchesani syndrome associated with retinitis pigmentosa.
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.
authors.affiliation: Pediatric Ophthalmology and Strabismus, Aravind Eye Hospitals, 1, Annanagar, Madurai - 625 020, Tamil Nadu, India. xethani@rediffmail.com
authors.forename: Jitendra
authors.initials: J
authors.lastname: Jethani
authors.forename: Anurag
authors.initials: A
authors.lastname: Mishra
authors.forename: Shashikant
authors.initials: S
authors.lastname: Shetty
authors.forename: P
authors.initials: P
authors.lastname: Vijayalakshmi
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D004596:Electroretinography; D005260:Female; D005385:Fingers / Q000002:abnormalities; D015812:Glaucoma, Angle-Closure / Q000175:diagnosis / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000175:diagnosis*; D006801:Humans; D007906:Lens Subluxation / Q000175:diagnosis / Q000235:genetics*; D033401:Microscopy, Acoustic; D009216:Myopia / Q000175:diagnosis / Q000235:genetics*; D011379:Prognosis; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome