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Familial asymptomatic macular telangiectasia type 2
Mark C Gillies1, Meidong Zhu, Emily Chew
1Save Sight Institute, Department of Clinical Ophthalmology and Eye Health, The University of Sydney, Sydney, Australia. mark@eye.usyd.edu.au
Ophthalmology
|October 10, 2009
Summary
Macular telangiectasia type 2 can affect asymptomatic individuals, often detected through advanced imaging. Early diagnosis in family members is crucial for understanding disease progression and genetic factors.
Area of Science:
- Ophthalmology
- Genetics
- Medical Imaging
Background:
- Macular telangiectasia type 2 (MacTel 2) is a retinal disease.
- Understanding its prevalence and genetic basis is important.
Observation:
- This study examined asymptomatic family members of MacTel 2 patients.
- Ophthalmologic examinations included visual acuity, biomicroscopy, FA, OCT, and FAF.
- Subtle signs of MacTel 2 were found in asymptomatic relatives, including monozygotic twins.
Findings:
- Two of three daughters in one family showed MacTel 2 features, one diagnosed solely by OCT and FAF.
- In another family, an affected brother and monozygotic twins displayed varying degrees of MacTel 2 signs without subjective visual impairment.
- Asymptomatic individuals were unaware of their condition.
Implications:
- MacTel 2 may be more prevalent than previously thought, with affected individuals often asymptomatic.
- Studying early, asymptomatic cases can provide insights into MacTel 2 pathogenesis.
- Further research is needed to explore potential dominant inheritance patterns with variable penetrance.
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