Mitochondrial retinopathy
Kearns and Sayre described patients with “pigmentary degeneration” on funduscopy, night vision abnormalities, and some histologic similarities, but also clinical differences, to retinitis pigmentosa Subsequently, the retinal phenotype of KSS was described as retinitis pigmentosa, atypical retinitis pigmentosa, tapetoretinal degeneration, salt-and-pepper retinopathy, and pigmentary retinopathy. As the clinical characterization, however, was not always comprehensive the term "mitochondrial retinopathy" appears most accurate and the diagnosis of RP may have been imprecise. Patients with KSS show widespread granular pigmented alterations in the posterior fundus which correspond to granular patterns on fundus autofluorescence imaging. Associated changes on optical coherence tomography (OCT) include reflectivity changes predominantly at the level of the ellipsoid and interdigitation zone and an increased distance between the ellipsoid band and the retinal pigment epithelium. Night blindness may be seen in patients with KSS. Visual acuity loss is usually mild and only occurs in 40–50% of patients. Cardiac conduction abnormalities
These most often occur years after the development of ptosis and ophthalmoplegia. Atrioventricular (abbreviated "AV") block is the most common cardiac conduction deficit. This often progresses to a Third-degree atrioventricular block, which is a complete blockage of the electrical conduction from the atrium to the ventricle. Symptoms of heart block include syncope, exercise intolerance, and bradycardia. Cerebral folate deficiency
Kearns-Sayre patients are consistently found to have cerebral folate deficiency, a syndrome in which 5-MTHF levels are decreased in the cerebrospinal fluid despite being normal in serum.
Symptomatic
Symptomatic bacteriuria is synonymous with urinary tract infection and typically treated with antibiotics. Common choices include nitrofurantoin and trimethoprim/sulfamethoxazole. Epidemiology
References


== External links ==