Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL

Autosomal recessive retinitis pigmentosa is caused by mutations in over 40 genes, one of which is the ceramide kinase-like gene (<i>CERKL</i>). We present a case series of six patients from six unrelated families diagnosed with inherited retinal dystrophies (IRD) and with two variants in...

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Bibliographic Details
Main Authors: Susan M. Downes, Tham Nguyen, Vicky Tai, Suzanne Broadgate, Mital Shah, Saoud Al-Khuzaei, Robert E. MacLaren, Morag Shanks, Penny Clouston, Stephanie Halford
Format: Article
Language:English
Published: MDPI AG 2020-12-01
Series:Genes
Subjects:
<i>CERKL</i>
inherited retinal dystrophy (IRD)
retinitis pigmentosa (RP)
autosomal recessive (ar)
variable phenotype
Online Access:https://www.mdpi.com/2073-4425/11/12/1497

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https://www.mdpi.com/2073-4425/11/12/1497

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