Original Research
Exp. Biol. Med.
Sec. Genomics, Proteomics and Bioinformatics
CERKL-related inherited retinal dystrophy in a Brazilian cohort: genotype-phenotype correlation
- ES
Erika Sayuri Yasaki 1
- MV
Mariana Vallim Salles 1,2
- FL
Fabiana Louise Motta 1,2
- JS
Juliana Sallum 1,2
1. Universidade Federal de Sao Paulo Departamento de Oftalmologia e Ciencias Visuais, São Paulo, Brazil
2. Insituto de Genetica Ocular, São Paulo, Brazil
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Abstract
Purpose: to analyze the genotype-phenotype of CERKL-related inherited retinal dystrophy in an outpatient clinic. Methods: 2841 medical records of Brazilian patients with diagnosis of an inherited retinal dystrophy (IRD) registered at Instituto de Genética Ocular, Brazil, between January 2006 and July 2025 were retrospectively reviewed and 53 patients from 50 unrelated families with molecular diagnosis of an IRD related to CERKL gene were selected. Clinical data and molecular findings were analyzed for genotype- phenotype correlation. Results: most patients (51/52) presented as cone rod dystrophy (CORD) and 2 patients as macular dystrophy (MD) phenotype. Age of presenting symptoms ranged from early childhood (7 years old) to adulthood (40 years old). BCVA Snellen measured at the first visit ranged from 20/25 to light perception, corresponding to 0.1 to 2.7 in log MAR visual acuity. Data of visual acuity according to disease duration at first visit of 45 patients disclosed a Pearson coefficient R2 of 0.31 for the right eye and 0.42 for the left eye, respectively. Twenty-four different variants described in CERKL gene were identified. The c.847C>T (p.Arg283) nonsense variant in exon 6 was the most common variant in this cohort, identified in 24 homozygous out of 52 individuals and in 12 compound heterozygous. Conclusion: the phenotype of CERKL-related IRD is CORD with an early age of presentation and fast decrease in visual acuity. This paper is an effort of our group to study the relative frequency of inherited retinal dystrophies in Brazil and may contribute to increase the knowledge of populational data and understanding the genetic bases in a diverse ethnic population
Summary
Keywords
CERKL gene, cone rod dystrophy, inherited retinal dystrophy, macular dystrophy, retinitis pigmentosa
Received
17 December 2025
Accepted
11 June 2026
Copyright
© 2026 Yasaki, Salles, Motta and Sallum. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
*Correspondence: Juliana Sallum
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