Article
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
Progress in retinal and eye research - 1 May 2021
De Silva Samantha R, Arno Gavin, Robson Anthony G, Fakin Ana, Pontikos Nikolas, Mohamed Moin D, Bird Alan C, Moore Anthony T, Michaelides Michel, Webster Andrew R, Mahroo Omar A
Abstract excerpt
X-linked retinopathies represent a significant proportion of monogenic retinal disease. They include progressive and stationary conditions, with and without syndromic features. Many are X-linked recessive, but several exhibit a phenotype in female carriers, which can help establish diagnosis and yield insights into disease mechanisms. The presence of affected carriers can misleadingly suggest autosomal dominant...
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