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Sorsby's pseudoinflammatory macula dystrophy--Sorsby's fundus dystrophies
M R Capon1, P J Polkinghorne, F W Fitzke
1Department of Clinical Ophthalmology, Moorfields Eye Hospital, London.
Eye (London, England)
|January 1, 1988
Summary
This study updates the Kempster pedigree for Sorsby's fundus dystrophy, confirming autosomal dominant inheritance. Novel findings include peripheral retinal dysfunction and unique visual defects preceding central vision loss, suggesting genetic heterogeneity.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- Sorsby's fundus dystrophy (SFD) is an inherited retinal disease.
- Previous studies established autosomal dominant inheritance and characteristic features like subfoveal neovascularization and peripheral chorioretinal atrophy.
Purpose of the Study:
- To present findings on an updated Kempster pedigree for SFD.
- To compare the clinical presentation in this family with previously reported cases.
Main Methods:
- Pedigree analysis of the Kempster family.
- Clinical examination and ophthalmological assessments.
Main Results:
- Confirmed autosomal dominant inheritance with complete penetrance.
- Observed peripheral retinal dysfunction, subretinal yellow deposits, and tritan color defects preceding central vision loss.
- Identified variations in the progression of subretinal neovascularization and cases of central vision loss due to atrophy.
Conclusions:
- The observed variations in clinical presentation and disease progression suggest possible genetic heterogeneity in Sorsby's fundus dystrophy.
- Further research is warranted to explore the genetic basis of these variations.