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Kearns Sayre syndrome: an atypical presentation
Rajakannan1, Gayathri, W Prasad
1Aravind Eye Hospitals and PG Institute of Ophthalmology, 1 Anna Nagar, Madurai-625 020, India.
Indian Journal of Ophthalmology
|March 29, 2001
Summary
Kearns Sayre syndrome, a rare disorder, typically presents with external ophthalmoplegia, retinal degeneration, and heart block. This case highlights a rare variant lacking retinal pathology, expanding the known clinical spectrum of this condition.
Area of Science:
- Neurology
- Ophthalmology
- Cardiology
- Genetics
Background:
- Kearns Sayre syndrome (KSS) is a rare mitochondrial myopathy.
- KSS classically presents with a triad of progressive external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction defects.
Observation:
- A patient presented with clinical and histopathological findings consistent with Kearns Sayre syndrome.
- The patient exhibited external ophthalmoplegia and heart block.
Findings:
- Notably, the patient's presentation lacked the typical retinal pigmentary degeneration.
- This case represents an atypical variant of Kearns Sayre syndrome.
Implications:
- This case expands the diagnostic criteria and understanding of Kearns Sayre syndrome variants.
- Highlights the importance of considering KSS even in the absence of all classic triad features.
- Suggests potential genotype-phenotype variability in mitochondrial DNA mutations causing KSS.