Article
The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa.
Ophthalmic genetics - 1 Mar 1997
Iannaccone A, De Propris G, Roncati S, Rispoli E, Del Porto G, Pannarale M R
Abstract excerpt
PURPOSE: To investigate 20 patients affected with Bardet-Biedl (BB) syndrome and compare them to an age-matched group of 70 non-syndromic patients with retinitis pigmentosa (RP) to identify hallmarks peculiar to the BB phenotype. METHODS: Patients were examined clinically and with functional tests (color vision, kinetic perimetry, electroretinography, ocular motility tests). Fundus findings were numerically...
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