CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.
Ophthalmol Retina
; 7(10): 918-931, 2023 10.
Article
em En
| MEDLINE
| ID: mdl-37331655
ABSTRACT
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 OUTCOMEMEASURES:
Visual function, retinal imaging, and characteristics were evaluated and correlated.RESULTS:
The mean age at the first visit was 29.6 ± 13.9 years, and the mean follow-up time was 9.1 ± 7.4 years. The most frequent initial symptom was central vision loss (40%), and the most common retinal feature was well-demarcated areas of macular atrophy (57%). Seventy-seven percent of the participants had double-null genotypes, and 64% had electrophysiological assessment. Among the latter, 53% showed similar severity of rod and cone dysfunction, 27% revealed a rod-cone, 10% a cone-rod, and 10% a macular dystrophy dysfunction pattern. Patients without double-null genotypes tended to have fewer pigment deposits and included a higher proportion of older patients with a relatively mild electrophysiological phenotype. Longitudinal analysis showed that over half of the cohort lost 15 ETDRS letters or more in ≥ 1 eye during the first 5 years of follow-up.CONCLUSIONS:
The phenotype of CERKL-retinal dystrophy is broad, encompassing isolated macular disease to severe retina-wide involvement, with a range of functional phenotypes, generally not fitting in the rod-cone/cone-rod dichotomy. Disease onset is often earlier, with more severe retinal degenerative changes and photoreceptor dysfunction, in nullizygous cases. FINANCIAL DISCLOSURE(S) Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Retina
/
Distrofias Retinianas
Tipo de estudo:
Clinical_trials
/
Diagnostic_studies
/
Observational_studies
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Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Ophthalmol Retina
Ano de publicação:
2023
Tipo de documento:
Article