NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS–SAYRE SYNDROME. Issue Volume 12:Issues 4(2018) (2018)

• Record Type: Journal Article
• Authors: Kozak, Igor; Oystreck, Darren T.; Abu-Amero, Khaled K.; Nowilaty, Sawsan R.; Alkhalidi, Hisham; Elkhamary, Sahar M.; Mohamed, Sarar; Hamad, Muddathir H. A.; Salih, Mustafa A.; Blakely, Emma L.; Taylor, Robert W.; Bosley, Thomas M.
• Is Part Of: Retinal cases & brief reports. Volume 12:Issues 4(2018)
• Publication Date: 2018
• Subjects: retina -- mitochondria -- mitochondrial DNA -- Kearns–Sayre sSyndrome -- congenital retinopathy -- pigmentary retinopathy -- retinal scarring -- macular hole; Retina -- Diseases -- Periodicals; Retina -- Periodicals; Retinal Diseases -- Periodicals; Retina -- Case Reports; Retinal Diseases -- Case Reports; 617.7
• DOI: 10.1097/ICB.0000000000000503
• Languages: English
• ISSNs: 1935-1089

Abstract

Abstract : 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. Abstract : Subretinal fibrosis and macular hole are novel retinal observations in Kearns–Sayre syndrome. The size of the single, large-scale mtDNA deletion and level of mtDNA heteroplasmy correspond with degree of retinopathy and ocular motility restriction.