DR. MITALI MANGOLI

Dr. Bhagyajyothi B. K., DR. DHRUV GOYAL, DR. DEEPASHRI MUTALIK, DR. ARYA WAKANKAR

Abstract

KS syndrome is a genetic disorder with a triad of chronic progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduction defects leading to heart block. The syndrome belongs to a diverse group of mitochondrial myopathies, most commonly due to single sporadic deletions in mitochondrial DNA.

A 12-year-old girl, 1st born to a 3rd degree consanguinous marriage, who was apparently alright till 10 years of age came with complaints of bilateral drooping of upper eyelids since 2 years. The drooping of eyelids was noticed by her family and was constant, non-progressive in nature with no diurnal variation. Chin lift position. VA was 6/12 in BE. Upper eyelids covered 4 mm of the cornea in both eyes. EOM showed restriction of movement in BE. Anterior segment was within normal limits. Fundus examination showed pigmentary retinopathy. MRI Brain showed features of mitochondrial cytopathy. CSF analysis showed increased lactate and proteins.Genetic correlation was found.