Kearns-Sayre Syndrome: A Case Study

Kearns-Sayre syndrome (KSS) it is an uncommon mitochondrial myopathy and multisystem disorder that affect the heart, eye, and the body muscles it is characterized by a three signs including onset before age 20 years ,pigmentary retinopathy and progressive external ophthalmoplegia (PEO) 1,2,3 The other clinical features that accompany with this syndrome include Cerebrospinal fluid (CSF) protein elevation or cerebellar ataxia, dementia, deafness, proximal myopathy, short stature furthermore endocrine disorders such as diabetes mellitus, thyroid dysfunctions, Addison’s disease and hyperparathyroidism. 4 A 17-year-old male came for his regular ophthalmic and general health checkup with a past medical history of bilateral ptosis ,presented to the clinic with diplopia, decreased visual acuity and nyctalopia which is'' defined as ''night blindness'' or defective dark adaptation'' 5 . The clinical examination revealed a short stature one standard below the mean with a normal body mass index. On the other hand Ophthalmologic examination revealed bilateral and partial external ophthalmoplegia with mild limitations in all the directions while the patient visual acuity was four bilaterally with evidence of an astigmatism. On funduscopic examination, bilateral and atypical
This study highlight that frontalis suspension procedure lead to best result without recurrence of the ptosis among different cases of KS syndrome in compare to levator advancement procedure. The cause behind these good result is due to the fact that the functional reconstruction of the of the frontalis suspension also the frontalis muscle not entirely affected by this syndrome unless later and slowly compared to levatore muscle that affected much faster and earlier .