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Biallelic Optic Atrophy 1 (OPA1) Related Disorder—Case Report and Literature Review
Dominant optic atrophy (DOA), MIM # 605290, is the most common hereditary optic neuropathy inherited in an autosomal dominant pattern. Clinically, it presents a progressive decrease in vision, central visual field defects, and retinal ganglion cell loss. A biallelic mode of inheritance causes syndro...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223020/ https://www.ncbi.nlm.nih.gov/pubmed/35741767 http://dx.doi.org/10.3390/genes13061005 |
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author | Othman, Bayan Al Ong, Jia Ern Dumitrescu, Alina V. |
author_facet | Othman, Bayan Al Ong, Jia Ern Dumitrescu, Alina V. |
author_sort | Othman, Bayan Al |
collection | PubMed |
description | Dominant optic atrophy (DOA), MIM # 605290, is the most common hereditary optic neuropathy inherited in an autosomal dominant pattern. Clinically, it presents a progressive decrease in vision, central visual field defects, and retinal ganglion cell loss. A biallelic mode of inheritance causes syndromic DOA or Behr phenotype, MIM # 605290. This case report details a family with Biallelic Optic Atrophy 1 (OPA1). The proband is a child with a severe phenotype and two variants in the OPA1 gene. He presented with congenital nystagmus, progressive vision loss, and optic atrophy, as well as progressive ataxia, and was found to have two likely pathogenic variants in his OPA1 gene: c.2287del (p.Ser763Valfs*15) maternally inherited and c.1311A>G (p.lIle437Met) paternally inherited. The first variant is predicted to be pathogenic and likely to cause DOA. In contrast, the second is considered asymptomatic by itself but has been reported in patients with DOA phenotype and is presumed to act as a phenotypic modifier. On follow-up, he developed profound vision impairment, intractable seizures, and metabolic strokes. A literature review of reported biallelic OPA1-related Behr syndrome was performed. Twenty-one cases have been previously reported. All share an early-onset, severe ocular phenotype and systemic features, which seem to be the hallmark of the disease. |
format | Online Article Text |
id | pubmed-9223020 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-92230202022-06-24 Biallelic Optic Atrophy 1 (OPA1) Related Disorder—Case Report and Literature Review Othman, Bayan Al Ong, Jia Ern Dumitrescu, Alina V. Genes (Basel) Article Dominant optic atrophy (DOA), MIM # 605290, is the most common hereditary optic neuropathy inherited in an autosomal dominant pattern. Clinically, it presents a progressive decrease in vision, central visual field defects, and retinal ganglion cell loss. A biallelic mode of inheritance causes syndromic DOA or Behr phenotype, MIM # 605290. This case report details a family with Biallelic Optic Atrophy 1 (OPA1). The proband is a child with a severe phenotype and two variants in the OPA1 gene. He presented with congenital nystagmus, progressive vision loss, and optic atrophy, as well as progressive ataxia, and was found to have two likely pathogenic variants in his OPA1 gene: c.2287del (p.Ser763Valfs*15) maternally inherited and c.1311A>G (p.lIle437Met) paternally inherited. The first variant is predicted to be pathogenic and likely to cause DOA. In contrast, the second is considered asymptomatic by itself but has been reported in patients with DOA phenotype and is presumed to act as a phenotypic modifier. On follow-up, he developed profound vision impairment, intractable seizures, and metabolic strokes. A literature review of reported biallelic OPA1-related Behr syndrome was performed. Twenty-one cases have been previously reported. All share an early-onset, severe ocular phenotype and systemic features, which seem to be the hallmark of the disease. MDPI 2022-06-02 /pmc/articles/PMC9223020/ /pubmed/35741767 http://dx.doi.org/10.3390/genes13061005 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Othman, Bayan Al Ong, Jia Ern Dumitrescu, Alina V. Biallelic Optic Atrophy 1 (OPA1) Related Disorder—Case Report and Literature Review |
title | Biallelic Optic Atrophy 1 (OPA1) Related Disorder—Case Report and Literature Review |
title_full | Biallelic Optic Atrophy 1 (OPA1) Related Disorder—Case Report and Literature Review |
title_fullStr | Biallelic Optic Atrophy 1 (OPA1) Related Disorder—Case Report and Literature Review |
title_full_unstemmed | Biallelic Optic Atrophy 1 (OPA1) Related Disorder—Case Report and Literature Review |
title_short | Biallelic Optic Atrophy 1 (OPA1) Related Disorder—Case Report and Literature Review |
title_sort | biallelic optic atrophy 1 (opa1) related disorder—case report and literature review |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223020/ https://www.ncbi.nlm.nih.gov/pubmed/35741767 http://dx.doi.org/10.3390/genes13061005 |
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