Overview
Definition
Inherited group of diseases causing progressive retinal degeneration.
Epidemiology
Varies globally depending on genetics, environment, or exposure.
Etiology & Risk Factors
- Various genetic mutations affecting photoreceptors (rods first).
Clinical Symptoms
- Night blindness (nyctalopia) in childhood
- progressive loss of peripheral vision (tunnel vision)
- bone spicule pigmentation on retina.
Clinical Approach
Diagnosis
- Electroretinography (ERG)
- genetic testing.
Management
- Vitamin A supplementation (controversial)
- Gene therapy (Luxturna for specific mutations).
Complications
- Eventual blindness.