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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Association for Research in Vision and Ophthalmology
2023
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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. |
format | Online Article Text |
id | pubmed-10019488 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | The Association for Research in Vision and Ophthalmology |
record_format | MEDLINE/PubMed |
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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