Biallelic Optic Atrophy (OPA1) Related Disorder – Case Report and Literature Review
Location
E4117 and E4119
Document Type
Presentation
Start Date
30-11-2023 2:00 PM
End Date
30-11-2023 3:00 PM
Description
Abstract
Introduction: The most common hereditary optic neuropathy, dominant optic atrophy (DOA), is inherited in an autosomal dominant pattern. Clinically, it presents as a progressive decrease in central visual acuity, central and later peripheral visual field defects, and retinal ganglion cells loss. Biallelic inheritance leads to a more severe disease usually referred to as Behr syndrome.
Methods: This is a case report focuses on a family with Biallelic Optic Atrophy 1 (OPA1).
Results/case report: The proband is a 17-month-old child with a severe phenotype and two variants in the OPA1 gene. The symptoms that he presented with were progressive vision loss, congenital nystagmus, progressive ataxia, and optic atrophy. Genetic testing showed two likely pathogenic variants in his OPA1 gene: one of which was inherited maternally, c.2287del (p.Ser763Valfs*15), and the other was inherited paternally, c.1311A>G (p.lIle437Met). The first variant, c.2287del, is predicted to be pathogenic and likely to cause DOA. In contrast, c.1311A>G, on its own, is considered asymptomatic but has been reported in patients with the DOA phenotype and is presumed to act as a phenotypic modifier. On follow-up, the child developed a multitude of symptoms including profound vision impairment, metabolic strokes, and intractable seizures. Upon literature review, twenty-one cases of biallelic OPA1-related Behr syndrome have been previously reported.
Conclusion: An early-onset, severe ocular phenotype and associated systemic features, seem to be hallmarks of the disease.
Recommended Citation
Ong, Jia Ern; Othman, Bayan Al; and Dumitrescu, Alina, "Biallelic Optic Atrophy (OPA1) Related Disorder – Case Report and Literature Review" (2023). DMU Research Symposium. 2.
https://digitalcommons.dmu.edu/researchsymposium/2023rs/2023abstracts/2
Biallelic Optic Atrophy (OPA1) Related Disorder – Case Report and Literature Review
E4117 and E4119
Abstract
Introduction: The most common hereditary optic neuropathy, dominant optic atrophy (DOA), is inherited in an autosomal dominant pattern. Clinically, it presents as a progressive decrease in central visual acuity, central and later peripheral visual field defects, and retinal ganglion cells loss. Biallelic inheritance leads to a more severe disease usually referred to as Behr syndrome.
Methods: This is a case report focuses on a family with Biallelic Optic Atrophy 1 (OPA1).
Results/case report: The proband is a 17-month-old child with a severe phenotype and two variants in the OPA1 gene. The symptoms that he presented with were progressive vision loss, congenital nystagmus, progressive ataxia, and optic atrophy. Genetic testing showed two likely pathogenic variants in his OPA1 gene: one of which was inherited maternally, c.2287del (p.Ser763Valfs*15), and the other was inherited paternally, c.1311A>G (p.lIle437Met). The first variant, c.2287del, is predicted to be pathogenic and likely to cause DOA. In contrast, c.1311A>G, on its own, is considered asymptomatic but has been reported in patients with the DOA phenotype and is presumed to act as a phenotypic modifier. On follow-up, the child developed a multitude of symptoms including profound vision impairment, metabolic strokes, and intractable seizures. Upon literature review, twenty-one cases of biallelic OPA1-related Behr syndrome have been previously reported.
Conclusion: An early-onset, severe ocular phenotype and associated systemic features, seem to be hallmarks of the disease.
