Ocular involvement in Kearns-Sayre syndrome

Ramírez, N. de las Rivas; Uxó, C. Mañas; Linero, C. Alba

doi:10.1016/j.jfo.2021.03.014

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Mitochondrial Disorders Kearns-sayre Syndrome1

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2022

2025

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Cited by 3 publications

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“…Interestingly, bilateral retinoschisis, a macular vitelliform-like lesion and subretinal fluid have all been reported [118][119][120]. OCT may reveal areas of outer retinal layer atrophy and ellipsoid zone disruption [121], while FAF reveals areas of speckled hypo-and hyperautofluorescence [122]. Full-field ERG shows evidence of generalised cone and rod-system dysfunction [19].…”

Section: Mitochondrial Disorders Kearns-sayre Syndromementioning

confidence: 99%

Inherited causes of combined vision and hearing loss: clinical features and molecular genetics

et al. 2022

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Combined vision and hearing loss, also known as dual sensory impairment, can occur in several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler, Waardenburg, Alport and Alstrom syndrome. The retinal phenotype may point to the diagnosis of such disorders. Herein, we aim to provide a comprehensive review of the molecular genetics and clinical features of the most common non-chromosomal inherited disorders to cause dual sensory impairment.

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