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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...

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Autores principales: Othman, Bayan Al, Ong, Jia Ern, Dumitrescu, Alina V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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.
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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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