Article
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
Investigative ophthalmology & visual science - 1 Dec 2009
Aleman Tomas S, Soumittra Nagasamy, Cideciyan Artur V, Sumaroka Alexander M, Ramprasad Vedam Lakshmi, Herrera Waldo, Windsor Elizabeth A M, Schwartz Sharon B, Russell Robert C, Roman Alejandro J, Inglehearn Chris F, Kumaramanickavel Govindasamy, Stone Edwin M, Fishman Gerald A, Jacobson Samuel G
Abstract excerpt
PURPOSE: To define the phenotype of the retinal degeneration associated with mutations in the CERKL gene. METHODS: Six patients (ages, 26-54 years) from three unrelated families with CERKL mutations were studied clinically and by electroretinography, kinetic, and chromatic static perimetry, autofluorescence (AF) imaging, and optical coherence tomography (OCT). RESULTS: Three siblings were homozygotes for p.R257X...
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