A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy
American Journal of Ophthalmology Case Reports, 2022 Purpose: To describe a case of hereditary spastic ataxia (HSP) presenting with childhood optic nerve atrophy and report a novel homozygous variant in the SPG7 gene.
Kathrine O. Eriksen +6 more
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Indian Journal of Ophthalmology, 2014 Background: Optic nerve atrophy is an important ophthalmological sign that may be associated with serious systemic conditions having a significant bearing on the overall morbidity of the child.
Supriya Chinta +5 more
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The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect [PDF]
Molecular Genetics and Metabolism ReportsMultiple mitochondrial dysfunctions syndrome 6 (MMDS6), caused by biallelic likely pathogenic variants in PMPCB, is an extremely rare autosomal recessive childhood-onset neurodegenerative disorder, with only six reported cases to date, most resulting in ...
Reme Unuakhalu +6 more
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Reversible cupping and persistent vessel narrowing after glaucoma surgery in childhood glaucoma: a quantitative fundus photograph study [PDF]
Frontiers in MedicinePurposeTo investigate postoperative changes in peripapillary retinal vessel caliber and optic disc structure in childhood glaucoma.DesignProspective, comparative cohort study with a 2-year follow-up.MethodsThis study included 24 glaucomatous eyes ...
Miao Zhang +5 more
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Comment on: Childhood optic atrophy in biotinidase deficiency
Indian Journal of Ophthalmology, 2016 N Venugopal, Sherin Kummararaj
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Frontiers in Neurology, 2022 AimsTo evaluate the clinical characteristics and causative genetic variants in autosomal optic atrophy diagnosed using next-generation sequencing (NGS).MethodsA cohort of 57 unrelated families affected with bilateral optic atrophy were recruited from two
Yuri Seo +12 more
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Wolfram syndrome with childhood glaucoma: A rare case report with review of literature
Journal of Clinical Ophthalmology and Research, 2020 Wolfram syndrome (WFS) is a rare neurodegenerative disorder characterized by young-onset diabetes mellitus, central diabetes insipidus, optic nerve atrophy, and hearing loss.
Divya Kesarwani +5 more
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Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters
American Journal of Ophthalmology Case Reports, 2022 Purpose: To present a case of two siblings with optic atrophy associated with Wolfram Syndrome. Observations: Two young adult siblings presented with serious bilateral loss of vision and dyschromatopsia established in early adolescence.
Tryfon Rotsos +4 more
doaj +1 more source
Optic Disc Change during Childhood Myopic Shift: Comparison between Eyes with an Enlarged Cup-To-Disc Ratio and Childhood Glaucoma Compared to Normal Myopic Eyes. [PDF]
PLoS ONE, 2015 Progressive disc tilting and the development or enlargement of peripapillary atrophy (PPA) are observed during a myopic shift in children. This could be related to the changes around the optic nerve head during eyeball elongation.
Hae-Young Lopilly Park +2 more
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The clinical profile of childhood optic neuritis [PDF]
Arquivos de Neuro-Psiquiatria, 2001 PURPOSE: To report the clinical features and outcome of a series of children with optic neuritis. METHODS: We reviewed the medical records of patients up to 16 years old with optic neuritis. Group 1 comprised children seen up to two weeks after the onset
Marco Aurélio Lana-Peixoto +1 more
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