Choroidal neovascularization in a teenager with Kearns Sayre syndrome

Kearns Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder. KSS primarily targets energy supply in cells through impaired oxidative metabolism and reduced ATP (Adenosine triphosphate) production. KSS is clinically characterized by a classic triad of chronic progressive external ophthalmoplegia, retinitis pigmentosa and cardiac conduction defect. Additional features may include neurological abnormalities, endocrinopathies, renal disease, growth failure, myopathy and more.

We present a case of a young male with KSS, retinal dystrophy and multiple systemic abnormalities.

Despite treatment with three intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections, the CNV demonstrated limited response and progressive enlargement, leading to poor final visual outcome.

To our knowledge, CNV has not been previously documented in Kearns -Sayre syndrome. This report underscores the need for ongoing surveillance in patients with rare retinal dystrophies, given the potential for unforeseen complications.