Abstract
Retinitis pigmentosa represents a class of disorders that exhibit dystrophy of the photoreceptors, pigment epithelium, and often systemic abnormalities, Bardet-Biedl syndrome is a form of retinitis pigmentosa that has characteristic non-ocular findings including polydactyly, obesity, learning difficulties, male hypogonadism, and renal anomalies. Though none of these renal anomalies are neoplastic, there is a 17 fold increased risk for renal cell carcinoma in obligate carriers of Bardet-Biedl syndrome. Herein, we describe a case of metastatic renal cell carcinoma discovered in a patient with Bardet-Biedl syndrome.
Original language | English (US) |
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Pages (from-to) | 33-35 |
Number of pages | 3 |
Journal | Ophthalmic Genetics |
Volume | 29 |
Issue number | 1 |
DOIs | |
State | Published - Mar 2008 |
Keywords
- Bardet-Biedl syndrome
- Renal cell carcinoma
- Retinitis pigmentosa
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Ophthalmology
- Genetics(clinical)