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Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene
I Passerini1, A Sodi, B Giambene
1Department of Genetic Diagnosis, Careggi University Hospital, Firenze, Italy. ilariapasserini@libero.it
European Journal of Ophthalmology
|December 1, 2007
Summary
A single peripherin/RDS gene mutation (S212G) caused distinct retinal conditions, retinitis pigmentosa and adult onset vitelliform macular dystrophy, within one Italian family, highlighting genetic variability.
Area of Science:
- Ophthalmology
- Medical Genetics
- Molecular Biology
Background:
- The peripherin/RDS gene plays a crucial role in photoreceptor structure and function.
- Mutations in the peripherin/RDS gene are known to cause various retinal dystrophies.
Observation:
- An Italian family presented with two distinct phenotypes: retinitis pigmentosa and adult onset vitelliform macular dystrophy.
- A 38-year-old woman exhibited adult onset vitelliform macular dystrophy, while her 62-year-old mother had severe retinitis pigmentosa.
Findings:
- Both individuals carried the identical S212G mutation in the peripherin/RDS gene.
- This specific mutation was previously linked to retinitis pigmentosa but not to adult onset vitelliform macular dystrophy.
Implications:
- The S212G mutation in peripherin/RDS can lead to diverse clinical presentations, even within the same family.
- Phenotypic variability suggests the influence of modifier genes or environmental factors on disease expression.
- Genetic counseling for retinal degeneration requires careful consideration of intrafamilial variability and potential environmental influences.
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