Retinal Dystrophies

What Are Retinal Dystrophies?

Retinal dystrophies are a diverse group of inherited conditions caused by mutations in genes essential for retinal function. They can affect the photoreceptors, the retinal pigment epithelium, or other retinal layers, leading to progressive vision loss that varies widely in severity and rate of progression.

Common Types

• Retinitis Pigmentosa (RP): Progressive degeneration of rod photoreceptors, leading to night blindness and tunnel vision.
• Stargardt Disease: The most common inherited macular dystrophy, affecting central vision in children and young adults.
• Best Disease: Causes egg yolk-like lesions at the macula, affecting central vision.
• Choroideremia: An X-linked condition causing progressive degeneration of the choroid and retina, primarily affecting males.
• Cone-Rod Dystrophies: Disorders primarily affecting cone photoreceptors, causing central vision loss and color vision problems.

Symptoms

Symptoms vary by condition but may include night blindness, loss of peripheral vision, reduced central vision, color vision changes, and light sensitivity. Many retinal dystrophies begin in childhood or young adulthood.

Evaluation and Genetic Testing

Diagnosis involves retinal examination, electroretinography (ERG), OCT imaging, visual field testing, and genetic testing to identify the causative mutation. Genetic diagnosis is increasingly important as gene therapy trials and approved treatments become available.