DEVELOPMENT OF CHRONIC SUBRETINAL FLUID IN KEARNS-SAYRE SYNDROME

To report a novel ophthalmic finding of the development of chronic subretinal fluid in a patient with Kearns-Sayre syndrome.

An observational case report with funduscopic, angiographic, neurophysiologic, and optical coherence tomographic correlation.

An 11-year-old male with bilateral hearing loss, cerebellar dysfunction, short stature, low weight, ptosis, external ophthalmoplegia, and pigmentary retinopathy of both eyes developed chronic subretinal fluid below the central macula. This fluid has remained for more than 1.5 years. Genetic testing revealed a heteroplasmic 7,797 base pair mitochondrial deletion (m. 7638-1543del7797).

The authors report a novel physical finding of subfoveal fluid in a patient with Kearns-Sayre syndrome. The pathophysiologic etiology of this fluid and its localization to the subfoveal retina remains unclear. Patients with pigmentary retinopathy related to mitochondrial disorders should be monitored for the development of subretinal fluid, which can contribute to vision loss.