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New observations regarding the retinopathy of genetically confirmed Kearns-Sayre syndrome

Lookup NU author(s): Professor Robert Taylor


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PURPOSE: To report novel retinal findings in Kearns-Sayre syndrome and correlate degree of retinopathy with other clinical findings. METHODS: Observational case series of patients from Saudi Arabia with retinal and neuroophthalmologic examinations, medical chart review, and mitochondrial genetic evaluation. RESULTS: The three unrelated patients had progressive external ophthalmoplegia and pigmentary retinopathy bilaterally. Muscle biopsy in two of the cases revealed mitochondrial myopathy. All three had abnormal findings on neuroimaging and modestly reduced visual acuity in both eyes with a variable pigmentary retinopathy. One of the patients had bilateral subretinal fibrosis with a full-thickness macular hole in the right eye. All three patients had single, large-scale mitochondrial DNA (mtDNA) deletions (5.0-7.6 kb in size) with blood mtDNA heteroplasmy levels ranging from below 20% to 57%. Severity of pigmentary retinopathy did not correlate with severity of progressive external ophthalmoplegia, but did correspond grossly with electroretinographic abnormalities, just as the degree of ocular motility restriction and ptosis in each patient correlated with the size of their extraocular muscles on neuroimaging. In addition, the size of the single, large-scale mtDNA deletion and level of mtDNA heteroplasmy corresponded with degree of ocular motility restriction but not with severity of retinopathy. CONCLUSION: Subretinal fibrosis and macular hole are novel retinal observations which expand clinical profile in Kearns-Sayre syndrome. Genetic testing for mtDNA deletions and heteroplasmy in blood, muscle biopsy, careful ocular and retinal examination including electroretinography, and imaging are indispensable tests for this condition.

Publication metadata

Author(s): Kozak I, Oystreck DT, Abu-Amero KK, Nowilaty SR, Alkhalidi H, Elkhamary SM, Mohamed S, Hamad MHA, Salih MA, Blakely EL, Taylor RW, Bosley TM

Publication type: Article

Publication status: Published

Journal: Retinal Cases & Brief Reports

Year: 2018

Volume: 12

Issue: 4

Pages: 349-358

Print publication date: 01/10/2018

Acceptance date: 02/04/2018

ISSN (print): 1935-1089

ISSN (electronic): 1937-1578

Publisher: Lippincott Williams & Wilkins


DOI: 10.1097/ICB.0000000000000503

PubMed id: 28296806


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