Hereditary Retinal Dystrophy

Hereditary Retinal Dystrophy Overview

Hereditary Retinal Dystrophies (HRDs) are a group of inherited diseases that affect the photoreceptors in the eye, the rods and cones, resulting in progressive vision loss. They are caused by genetic mutations that can be passed down from parents to their children. Currently, it is estimated that one in 4,000 people in the United States carry a gene that causes an HRD.

People who have an HRD may experience symptoms such as blurred vision, difficulty seeing in dim light, or difficulty recognizing colors. As the vision loss progresses, people may develop tunnel vision, difficulty seeing details, and even total blindness. There is no cure for HRD, but there are treatments available that can slow or stop its progression.

Types of Hereditary Retinal Dystrophies

There are many different types of hereditary retinal dystrophies, including:

  • Retinitis Pigmentosa
  • Leber Congenital Amaurosis
  • Stargardt Disease
  • Usher Syndrome
  • Choroideremia
  • Bardet-Biedl Syndrome
  • Batten Disease

Diagnosis & Treatment

Hereditary Retinal Dystrophies can be detected through a comprehensive medical evaluation that includes a detailed history of symptoms, physical examination, eye exams, and testing of the retina for signs of degeneration. There are also genetic tests available that can detect particular mutations that cause HRDs.

Treatment for HRDs is limited, but there are options available. These may include vitamin supplementation, laser surgery to reduce fluid buildup in the retina, and low-vision aids and devices. In some cases, gene therapy and stem cell therapy may be beneficial.