PMID- 33322828 OWN - NLM STAT- MEDLINE DCOM- 20210722 LR - 20210722 IS - 2073-4425 (Electronic) IS - 2073-4425 (Linking) VI - 11 IP - 12 DP - 2020 Dec 12 TI - Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL. LID - 10.3390/genes11121497 [doi] LID - 1497 AB - Autosomal recessive retinitis pigmentosa is caused by mutations in over 40 genes, one of which is the ceramide kinase-like gene (CERKL). We present a case series of six patients from six unrelated families diagnosed with inherited retinal dystrophies (IRD) and with two variants in CERKL recruited from a multi-ethnic British population. A retrospective review of clinical data in these patients was performed and included colour fundus photography, fundus autofluorescence (AF) imaging, spectral domain-optical coherence tomography (SD-OCT), visual fields and electroretinogram (ERG) assessment where available. Three female and three male patients were included. Age at onset ranged from 7 years old to 45 years, with three presenting in their 20s and two presenting in their 40s. All but one had central visual loss as one of their main presenting symptoms. Four patients had features of retinitis pigmentosa with significant variation in severity and extent of disease, and two patients had no pigment deposition with only macular involvement clinically. Seven variants in CERKL were identified, of which three are novel. The inherited retinopathies associated with the CERKL gene vary in age at presentation and in degree of severity, but generally are characterised by a central visual impairment early on. FAU - Downes, Susan M AU - Downes SM AUID- ORCID: 0000-0001-7373-2665 AD - Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK. AD - Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK. FAU - Nguyen, Tham AU - Nguyen T AD - Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK. FAU - Tai, Vicky AU - Tai V AD - Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK. FAU - Broadgate, Suzanne AU - Broadgate S AD - Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK. FAU - Shah, Mital AU - Shah M AUID- ORCID: 0000-0001-7496-6121 AD - Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK. AD - Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK. FAU - Al-Khuzaei, Saoud AU - Al-Khuzaei S AD - Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK. AD - Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK. FAU - MacLaren, Robert E AU - MacLaren RE AD - Oxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK. AD - Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK. FAU - Shanks, Morag AU - Shanks M AD - Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK. FAU - Clouston, Penny AU - Clouston P AD - Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK. FAU - Halford, Stephanie AU - Halford S AUID- ORCID: 0000-0003-2179-907X AD - Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK. LA - eng GR - RPFB Grant GR586/DH_/Department of Health/United Kingdom PT - Clinical Trial PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20201212 PL - Switzerland TA - Genes (Basel) JT - Genes JID - 101551097 RN - EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor)) RN - EC 2.7.1.138 (ceramide kinase) SB - IM MH - Adult MH - Child MH - Female MH - Humans MH - Male MH - Middle Aged MH - *Mutation MH - *Pedigree MH - Phosphotransferases (Alcohol Group Acceptor)/*genetics MH - *Retinitis Pigmentosa/ethnology/genetics MH - Retrospective Studies MH - United Kingdom/ethnology PMC - PMC7763961 OTO - NOTNLM OT - CERKL OT - autosomal recessive (ar) OT - inherited retinal dystrophy (IRD) OT - retinitis pigmentosa (RP) OT - variable phenotype COIS- The authors declare no conflict of interest. EDAT- 2020/12/17 06:00 MHDA- 2021/07/23 06:00 PMCR- 2020/12/12 CRDT- 2020/12/16 01:05 PHST- 2020/11/18 00:00 [received] PHST- 2020/12/09 00:00 [revised] PHST- 2020/12/10 00:00 [accepted] PHST- 2020/12/16 01:05 [entrez] PHST- 2020/12/17 06:00 [pubmed] PHST- 2021/07/23 06:00 [medline] PHST- 2020/12/12 00:00 [pmc-release] AID - genes11121497 [pii] AID - genes-11-01497 [pii] AID - 10.3390/genes11121497 [doi] PST - epublish SO - Genes (Basel). 2020 Dec 12;11(12):1497. doi: 10.3390/genes11121497.