CERKL

Mutations in the ceramide kinase-like gene (CERKL) are a common cause of retinitis pigmentosa and cone-rod dystrophy. Two potential causes reasons CERKL causes RP. #1) CERKL deficiency may make retinal cells more sensitive to apoptotic stimuli, which can lead to cell death and #2.) without CERKL, retinal cells may have trouble fighting oxidative stress from light, which can lead to cell death. In most cases, RP caused by CERKL mutations is inherited in an autosomal recessive (definition: An inheritance pattern where a person needs an altered copy of a gene from both parents to be affected. Parents with only one copy are usually unaffected carriers.) pattern. This means that a person must inherit a mutated copy of the gene from both parents. In some cases, RP caused by CERKL mutations is inherited in a dominant or X-linked (definition: An inheritance pattern where the altered gene is on the X chromosome. These conditions often affect males more severely, though some female carriers have symptoms too.) pattern. This means that a person only needs to inherit a mutated copy of the gene from one parent. Researchers are developing gene therapies to improve vision for people with RP. Researchers are studying how CERKL mutations affect the retina and how to develop treatments. CERKL Disease Category: autosomal recessive Patient Population: Unknown Known Clinical Trials: None known Check clinicaltrials.gov for updates Treatment Options: Strategies to Preserve Eye Health: Institution(s) Conducting Research: Unknown A FACE OF RP tbd tbd