Article
Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.
Molecular vision - 1 Jan 2013
Goldenberg-Cohen Nitza, Banin Eyal, Zalzstein Yael, Cohen Ben, Rotenstreich Ygal, Rizel Leah, Basel-Vanagaite Lina, Ben-Yosef Tamar
Abstract excerpt
PURPOSE: Retinitis pigmentosa (RP), the most genetically heterogeneous disorder in humans, actually represents a group of pigmentary retinopathies characterized by night blindness followed by visual-field loss. RP can appear as either syndromic or nonsyndromic. One of the most common forms of syndromic RP is Usher syndrome, characterized by the combination of RP, hearing loss, and vestibular dysfunction. METHODS:...
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