Kearns-Sayre syndrome, bilateral

This code identifies Kearns-Sayre syndrome, a rare, progressive neuromuscular disorder characterized by ophthalmoplegia, pigmentary retinopathy, and cardiac conduction abnormalities. It is a mitochondrial disease affecting multiple organ systems, with onset typically before age 20. The "bilateral" designation specifies that both eyes are affected by the ophthalmoplegia.

Assign this code when documentation confirms a diagnosis of Kearns-Sayre syndrome affecting both eyes. Supporting clinical evidence includes findings of progressive external ophthalmoplegia, atypical pigmentary retinopathy, and often cardiac involvement. This code is appropriate for initial diagnosis and subsequent encounters where the condition is being managed.

• Ensure documentation explicitly states "bilateral" involvement of the ophthalmoplegia component of Kearns-Sayre syndrome.
• Do not confuse with other mitochondrial disorders or isolated ophthalmoplegia without the full syndrome.
• Consider additional codes for associated manifestations, such as cardiac conduction defects (e.g., AV block), cerebellar ataxia, or elevated CSF protein, if documented.