Retinal dystrophy
Retinal dystrophies or inherited retinal diseases (IRDs) are a diverse group of genetic conditions that gradually impair retinal function. Types of retinal dystrophies include rod–cone and cone–rod dystrophies, chorioretinal degenerations, and macular dystrophies. These disorders affect the light-sensitive tissue at the back of the eye, leading to symptoms that range from night blindness to complete vision loss. With over 270 implicated genes, IRDs are highly variable, even among individuals with the same mutation, making diagnosis and management complex but increasingly precise.
How common is retinal dystrophy?
Although rare, retinal dystrophies affects approximately 1 in 4,000 individuals worldwide. Their impact on quality of life and long-term vision makes them a critical consideration in ophthalmic care.
What are the most common symptoms of retinal dystrophy?
Common symptoms in patients with retinal dystrophy include dim vision, color and night blindness, and peripheral field loss. These symptoms often worsen over time, with some forms progressing to total blindness.
How are retinal dystrophies diagnosed?
Diagnosis of retinal dystrophies typically involves retinal imaging (e.g., optical coherence tomography, fundus autofluorescence), electrophysiological tests like electroretinogram (ERG), and genetic analysis to identify causative mutations. A multidisciplinary approach, including genetic counseling and psychological support, is essential for long-term care.
What treatment options are available for retinal dystrophy?
There is currently no cure for retinal dystrophy; however, several strategies aim to preserve vision and improve quality of life. These include tinted glasses, occupational therapy, genetic testing, and gene therapy. Gene therapy is an emerging option, with treatments like voretigene neparvovec approved for specific IRDs. Clinical trials continue to expand therapeutic possibilities, offering hope for patients with previously untreatable conditions.
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