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Article

CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.

Ophthalmology. Retina - 1 Oct 2023

Daich Varela Malena, Duignan Emma S, De Silva Samantha R, Ba-Abbad Rola, Fujinami-Yokokawa Yu, Leo Shaun, Fujinami Kaoru, Mahroo Omar A, Robson Anthony G, Webster Andrew R, Michaelides Michel

Abstract excerpt

PURPOSE: To analyze the clinical characteristics, natural history, and genetics of CERKL-associated retinal dystrophy in the largest series to date. DESIGN: Multicenter retrospective cohort study. SUBJECTS: Forty-seven patients (37 families) with likely disease-causing CERKL variants. METHODS: Review of clinical notes, ophthalmic images, and molecular diagnosis from 2 international centers. MAIN OUTCOME MEASURES:...

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Phenotype
Photoreceptor Cells, Vertebrate
Retina
Retinal Dystrophies

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PMID: 37331655
DOI: 10.1016/j.oret.2023.06.007
PMCID: PMC11108804

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