Choroidal neovascularization in a teenager with Kearns Sayre syndrome.

BACKGROUND

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.

MATERIALS AND

METHODS

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

RESULTS

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.

CONCLUSION

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.