Lady in red: A case of Kearns-Sayre syndrome supported by histopathology.

Kearns–Sayre syndrome (KSS) is a rare mitochondrial cytopathy first described by Kearns and Sayre at Mayo Clinic in 1958.[1] The characteristic triad of this rare disease is total external ophthalmoplegia, bilateral atypical pigmentary retinopathy, and cardiac conduction defects.[2]

A 45-year-old diabetic female presented with severe bilateral, progressive ptosis since 10 years. There was no history of trauma, diurnal variability, diplopia, muscular weakness, or easy fatigability. Her best corrected visual acuity was 20/30, N6 in both eyes. On ocular examination, there was restricted ocular movement in all gazes, with chin elevation and poor Bell’s phenomenon [Fig. 1]. Fundus examination revealed areas of retinal pigment epithelial (RPE) defects in the posterior pole and the periphery [Fig. 2a and b]. Humphrey visual field analysis demonstrated changes corresponding with RPE defects in both eyes, and ERG was subnormal. Magnetic resonance imaging scan of brain and orbit showed no significant abnormality. Physical examination revealed no cardiac conduction abnormalities. Patient was a known case of hyperparathyroidism. A levator palpebrae superioris muscle biopsy was taken under local anesthesia. Microscopic examination with modified Gomori trichrome staining revealed characteristic “ragged red fibers” [Fig. 3] which has been postulated to be accumulated abnormal mitochondria below the plasma membrane of the muscle fiber.[3]

Figure 1

Photograph showing severe bilateral ptosis

Figure 2

Fundus photograph (montage) of right (a) and left eye (b) showing pigmentary retinopathy changes involving posterior pole and the periphery

Figure 3

Showing microscopic appearance of red ragged fibers stained as irregular and intensely red subsarcolemmal zones with modified Gomori trichrome stain

Discussion

KSS presents during the second decade of life.[2] Diabetes mellitus in KSS has been reported due to mutations in mitochondrial DNA that contributes to islet cell development in pancreas. Hence, genetic testing is important, especially when there is a family history of any mitochondrial disease.[4] It is commonly believed that patients with KSS do not survive beyond early adulthood.[5] Herein, we report an unusual presentation of KSS in a 45-year-old female, that disputes the commonly held beliefs about patients with KSS. Therefore, the role of an ophthalmologist is important as they may detect the disease association in majority of these patients.

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Conflicts of interest

There are no conflicts of interest.