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North Carolina macular dystrophy, revisited
1Duke University Medical Center, Durham, NC 27710.
Ophthalmology
|December 1, 1989
Summary
North Carolina macular dystrophy (NCMD) typically shows stable progression. A recent study found minimal visual acuity changes in affected individuals, suggesting a generally non-progressive course for this macular disease.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- North Carolina macular dystrophy (NCMD) progression is poorly documented.
- Understanding the natural history of NCMD is crucial for patient management and genetic counseling.
Purpose of the Study:
- To document the progression of maculopathy in North Carolina macular dystrophy (NCMD).
- To identify any new clinical findings associated with NCMD.
Main Methods:
- Examined 22 affected members of the original NCMD kindred.
- Compared recent fundus findings with historical fundus photographs.
- Assessed subjective complaints of worsening visual acuity.
Main Results:
- Only 1 of 22 affected subjects showed evidence of disease progression.
- Identified severe, staphylomatous/excavated macular lesions, differing from previous descriptions.
- Observed peripheral retinal drusen in affected subjects, contrary to earlier reports.
Conclusions:
- NCMD appears to have a generally stable disease course.
- New findings suggest a need to revise the understanding of NCMD's relationship with other dominant macular dystrophies.