Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.
Genes (Basel)
; 11(12)2020 12 12.
Article
en En
| MEDLINE
| ID: mdl-33322828
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Linaje
/
Retinitis Pigmentosa
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Fosfotransferasas (Aceptor de Grupo Alcohol)
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Mutación
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
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Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
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Child
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Female
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Humans
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Male
/
Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
Genes (Basel)
Año:
2020
Tipo del documento:
Article
País de afiliación:
Reino Unido