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Autosomal recessive inheritance in 'senile' retinitis pigmentosa
Acta Ophthalmologica
|April 1, 1987
Summary
This study reports a Norwegian family with retinitis pigmentosa (RP) exhibiting late onset. The affected siblings presented with varied symptom severity, suggesting autosomal recessive inheritance patterns in this rare RP form.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Retinitis pigmentosa (RP) is a group of inherited retinal diseases.
- RP typically causes progressive vision loss, often with early onset.
- Late-onset RP forms are less common and can present diagnostic challenges.
Observation:
- A Norwegian family presented with three affected siblings (two sisters, one brother).
- The proband, a 64-year-old woman, experienced visual field defects from age 57.
- Affected siblings showed varied symptom severity, from mild to asymptomatic.
Findings:
- The proband had an extinguished electroretinogram (ERG) but near-normal dark adaptation.
- Family data suggests an autosomal recessive inheritance pattern for this late-onset RP.
- Clinical and electrophysiological findings are detailed, alongside fundus photography.
Implications:
- This case highlights the variability in clinical presentation of late-onset RP.
- Understanding the genetic basis of rare RP forms is crucial for diagnosis and potential therapies.
- Further research into late-onset RP genetics may reveal novel disease mechanisms.