Inherited retinal disorders (IRDs) are a group of rare but serious eye diseases passed down genetically. They gradually affect the retina—the light-sensitive layer at the back of the eye—leading to vision loss and, in many cases, blindness. Thanks to advances in genetics and emerging treatments, people affected by IRDs now have more clarity and hope than ever before. Learn about the root causes, telltale signs, and newest therapies available.*

What Causes Inherited Retinal Disorders?

IRDs are caused by genetic mutations that disrupt the retina’s function. These mutations can be inherited in different ways—autosomal dominant, autosomal recessive, or X-linked—and may affect any of over 270 identified genes. Each gene plays a vital role in maintaining retinal health, so even a single mutation can impair light perception or signal transmission to the brain.

Some of the most recognized IRDs include:

• Retinitis pigmentosa (RP), 
• Leber congenital amaurosis (LCA), 
• Stargardt disease, and 
• Choroideremia.  

In each condition, the genetic inheritance pattern determines the onset, severity, and progression of vision loss. Because these diseases are genetically diverse, understanding the specific mutation is critical for diagnosis and treatment.

Genetic testing has become the gold standard for confirming IRDs. It not only pinpoints the faulty gene but also helps guide treatment options and inform family planning decisions.

Recognizing the Symptoms of IRDs

Symptoms of IRDs can vary widely depending on the specific condition and the stage of progression. Some common symptoms, however, include:

• Night blindness or poor dark adaptation (especially in RP)
  
• Loss of peripheral (side) vision, progressing to tunnel vision
  
• Difficulty reading or recognizing faces
  
• Decreased central vision or visual acuity
  
• Photophobia (light sensitivity)
  

In children with more severe IRDs like LCA, symptoms may appear within the first year of life, such as rapid eye movements (nystagmus) or apparent blindness. In others, such as Stargardt disease, central vision may deteriorate in adolescence or early adulthood.

Given the slow progression of many IRDs, early diagnosis is crucial. Eye care specialists may use electroretinography (ERG), optical coherence tomography (OCT), visual field tests, and genetic testing to make an accurate diagnosis.

Emerging Treatments and Hope for the Future

While no universal cure exists, significant progress has been made in treating IRDs. The FDA approved Luxturna, a gene therapy specifically for patients with mutations in the RPE65 gene, marking a milestone in retinal treatment. This one-time injection delivers a healthy copy of the gene directly into retinal cells to restore some visual function.

Other promising therapies in clinical trials include:

• Gene therapy for other genes implicated in IRDs
  
• Stem cell therapy to regenerate damaged retinal tissue
  
• Retinal implants or bionic eyes for advanced-stage blindness
  
• CRISPR-based gene editing, which aims to repair faulty genes at the DNA level
  

In addition, low-vision aids, orientation and mobility training, and psychological support play vital roles in helping patients live independently and maintain quality of life.

IRDs are complex, but advances in genetic understanding and therapy development are rapidly changing what it means to live with these conditions and bringing light to what was once a very dark diagnosis.

*Prevent Blindness. (n.d.). Inherited Retinal Diseases. Retrieved from https://preventblindness.org/inherited-retinal-diseases/ 

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