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Electroretinograms in microcephaly with chorioretinal degeneration
F J Manning1, A M Bruce, E L Berson
1Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Boston, Massachusetts.
American Journal of Ophthalmology
|April 15, 1990
Summary
Microcephaly can be associated with chorioretinal degeneration, which significantly reduces photoreceptor function. This vision impairment appears stable in young adults, though long-term outcomes require further study.
Area of Science:
- Ophthalmology
- Neuro-ophthalmology
- Genetics
Background:
- Microcephaly is a congenital condition characterized by an abnormally small head size.
- Chorioretinal degeneration involves the progressive deterioration of the choroid and retina.
- The association between microcephaly and chorioretinal degeneration requires further investigation.
Observation:
- Full-field electroretinograms (ffERG) were recorded in two families with microcephaly.
- Two siblings with microcephaly and inferior chorioretinal degeneration exhibited reduced ffERG responses.
- A mother and another daughter with microcephaly but without chorioretinal degeneration had normal ffERG.
Findings:
- Individuals with microcephaly and chorioretinal degeneration showed 60%-70% reduction in ffERG responses, indicating significant photoreceptor dysfunction.
- ffERG amplitudes in affected siblings remained stable between ages 12 and 21.
- A male patient with microcephaly and chorioretinal degeneration showed stable ffERG responses over a 14-year period (ages 9 to 23).
Implications:
- Chorioretinal degeneration associated with microcephaly appears to be a stable condition in young adulthood.
- The findings suggest that photoreceptor loss can exceed visible retinal atrophy.
- Long-term prognosis and potential interventions for this condition warrant further research.