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Visual prognosis in autosomal dominant optic atrophy (Kjer type)
D Eliott1, E I Traboulsi, I H Maumenee
1Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, Johns Hopkins Medical Institutions, Baltimore, Maryland.
American Journal of Ophthalmology
|March 15, 1993
Summary
Kjer
Area of Science:
- Ophthalmology
- Genetics
Background:
- Dominant optic atrophy (Kjer type) is an inherited condition affecting vision.
- Understanding its progression is crucial for patient management.
Purpose of the Study:
- To analyze the long-term visual acuity changes and functional impact in patients with Kjer's dominant optic atrophy.
- To assess the heterogeneity of the condition within and between pedigrees.
Main Methods:
- Longitudinal follow-up of 20 patients from three pedigrees over 5 to 40 years.
- Assessment of visual acuity, ophthalmoscopic findings, and patient-reported handicap.
Main Results:
- Visual acuity ranged from 20/20 to 20/400, with a median final acuity of 20/80.
- Most patients (65%) experienced stable or minimal vision loss (one Snellen line).
- Functional and ophthalmoscopic heterogeneity was observed, with 8 patients reporting significant handicap.
Conclusions:
- Kjer's dominant optic atrophy generally has a good visual prognosis with slow progression.
- Significant heterogeneity exists, necessitating individualized patient monitoring and support.