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Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes

PURPOSE: To describe the phenotype of CLN-associated retinal dystrophy in a subset of patients at the Columbia University Medical Center, United States, and the Hospital das Clínicas de Pernambuco, Brazil, in comparison to the published literature. METHODS: Eleven patients with confirmed biallelic v...

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Autores principales: Kolesnikova, Masha, Lima de Carvalho, Jose Ronaldo, Oh, Jin Kyun, Soucy, Megan, Demirkol, Aykut, Kim, Angela H., Tsang, Stephen H., Breazzano, Mark P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10019488/
https://www.ncbi.nlm.nih.gov/pubmed/36912596
http://dx.doi.org/10.1167/iovs.64.3.23
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author Kolesnikova, Masha
Lima de Carvalho, Jose Ronaldo
Oh, Jin Kyun
Soucy, Megan
Demirkol, Aykut
Kim, Angela H.
Tsang, Stephen H.
Breazzano, Mark P.
author_facet Kolesnikova, Masha
Lima de Carvalho, Jose Ronaldo
Oh, Jin Kyun
Soucy, Megan
Demirkol, Aykut
Kim, Angela H.
Tsang, Stephen H.
Breazzano, Mark P.
author_sort Kolesnikova, Masha
collection PubMed
description PURPOSE: To describe the phenotype of CLN-associated retinal dystrophy in a subset of patients at the Columbia University Medical Center, United States, and the Hospital das Clínicas de Pernambuco, Brazil, in comparison to the published literature. METHODS: Eleven patients with confirmed biallelic variants in the CLN genes were evaluated via dilated fundus examination, clinical imaging, and full-field electroretinogram. A thorough literature search was conducted to determine previously published variants and associated phenotypes. RESULTS: Genetic testing confirmed the presence of variants in CLN3, CLN7/MFSD8, CLN8, and GRN/CLN11. Five novel variants were identified, and four novel phenotypes of previously published alleles were described. The phenotype differed among patients with variants in the same gene and sometimes among patients with the same allele. CONCLUSIONS: Substantial phenotypic variability among variants in the CLN genes makes identification of genotype–phenotype or allele–phenotype correlations challenging. Further study is required to establish an extensive database for adequate patient counseling.
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spelling pubmed-100194882023-03-17 Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes Kolesnikova, Masha Lima de Carvalho, Jose Ronaldo Oh, Jin Kyun Soucy, Megan Demirkol, Aykut Kim, Angela H. Tsang, Stephen H. Breazzano, Mark P. Invest Ophthalmol Vis Sci Retina PURPOSE: To describe the phenotype of CLN-associated retinal dystrophy in a subset of patients at the Columbia University Medical Center, United States, and the Hospital das Clínicas de Pernambuco, Brazil, in comparison to the published literature. METHODS: Eleven patients with confirmed biallelic variants in the CLN genes were evaluated via dilated fundus examination, clinical imaging, and full-field electroretinogram. A thorough literature search was conducted to determine previously published variants and associated phenotypes. RESULTS: Genetic testing confirmed the presence of variants in CLN3, CLN7/MFSD8, CLN8, and GRN/CLN11. Five novel variants were identified, and four novel phenotypes of previously published alleles were described. The phenotype differed among patients with variants in the same gene and sometimes among patients with the same allele. CONCLUSIONS: Substantial phenotypic variability among variants in the CLN genes makes identification of genotype–phenotype or allele–phenotype correlations challenging. Further study is required to establish an extensive database for adequate patient counseling. The Association for Research in Vision and Ophthalmology 2023-03-13 /pmc/articles/PMC10019488/ /pubmed/36912596 http://dx.doi.org/10.1167/iovs.64.3.23 Text en Copyright 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
spellingShingle Retina
Kolesnikova, Masha
Lima de Carvalho, Jose Ronaldo
Oh, Jin Kyun
Soucy, Megan
Demirkol, Aykut
Kim, Angela H.
Tsang, Stephen H.
Breazzano, Mark P.
Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes
title Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes
title_full Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes
title_fullStr Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes
title_full_unstemmed Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes
title_short Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes
title_sort phenotypic variability of retinal disease among a cohort of patients with variants in the cln genes
topic Retina
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10019488/
https://www.ncbi.nlm.nih.gov/pubmed/36912596
http://dx.doi.org/10.1167/iovs.64.3.23
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