An inherited disorder causing both hearing loss and progressive vision loss (retinitis pigmentosa). Most common cause of combined deafness and blindness. Three clinical types with varying severity and progression.

• 1Genetic testing
• 2Clinical evaluation
• 3Family history assessment
• 4Specialized laboratory tests
• 5Imaging studies
• 6Biopsy (if applicable)

Progressive but manageable. Type 1: profound deafness from birth, retinitis pigmentosa by age 10, blindness by adulthood. Type 2: moderate to severe hearing loss at birth, RP in teens, legal blindness by 40s-60s. Type 3: progressive hearing and vision loss starting in teens. No cure, but cochlear implants restore hearing in Types 1 and 2. Low vision aids and mobility training helpful. Gene therapy trials ongoing. Life expectancy normal. Quality of life improved with early intervention and rehabilitation services.

• Genetic counseling
• Carrier screening
• Prenatal diagnosis
• Preimplantation genetic diagnosis
• Family planning