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Retinal abnormalities in Alport's syndrome.
O Gelisken1, F Hendrikse, C H Schröder
1Department of Ophthalmology, St. Radboud University Hospital, Nijmegen, The Netherlands.
Acta Ophthalmologica
|December 1, 1988
Summary
Ophthalmological findings in Alport syndrome patients reveal frequent retinal lesions, specifically flecked retinopathy in most cases. Retinal function remained normal, suggesting these lesions are more common than previously documented.
Area of Science:
- Ophthalmology
- Genetics
- Nephrology
Background:
- Alport syndrome is a genetic disorder affecting collagen production, primarily known for kidney and hearing issues.
- Ophthalmological manifestations in Alport syndrome are recognized but their prevalence requires further investigation.
Purpose of the Study:
- To investigate the spectrum and frequency of ophthalmological findings in patients with Alport syndrome.
- To specifically assess retinal and retinal function abnormalities in this cohort.
Main Methods:
- Retrospective analysis of ophthalmological examinations in 13 patients diagnosed with Alport syndrome.
- Detailed examination of the retina, including funduscopy and assessment of retinal vessels.
- Evaluation of retinal function through specialized tests.
Main Results:
- Flecked retinopathy was observed in 12 out of 13 patients (92%).
- Tortuosity of retinal vessels was noted in 2 patients (15%).
- Retinal function tests did not reveal any significant abnormalities across the studied patients.
Conclusions:
- Retinal lesions, particularly flecked retinopathy, are highly prevalent in Alport syndrome.
- The frequency of retinal findings in Alport syndrome may be underestimated in existing literature.
- While structural retinal changes are common, retinal function appears preserved in this cohort.