Inherited Retinal Disorders

Inherited retinal disorders (IRDs) come from changes in genes that control the retina’s structure and function. Most IRDs worsen over time, but some people keep stable vision for years.

There are many types of IRDs, each affecting vision in different ways:

• Retinitis pigmentosa – gradual loss of night and side vision
• Stargardt disease – central vision loss often beginning in youth
• Leber congenital amaurosis – severe vision loss from birth or infancy, sometimes with eye-poking (oculodigital sign)
• Best disease (vitelliform macular dystrophy) – central vision loss in childhood or adolescence, often stable for years, though some progress to central atrophy
• Cone-rod dystrophy – problems with color, central, and night vision
• Usher syndrome – affects hearing and vision
• Choroideremia – progressive vision loss, usually in males; female carriers may show patchy retinal pigment changes
• X-linked retinoschisis – splitting of retinal layers that runs in families, primarily affecting males; female carriers may have mild foveal changes
• Bardet-Biedl syndrome – vision loss with other health issues
• Achromatopsia – partial or total loss of color vision from birth, often with photophobia, reduced visual acuity, and nystagmus

IRDs pass through families in different ways based on gene changes.

• Autosomal dominant – one parent’s gene change can cause disease; expression may vary and some carriers may show reduced penetrance
• Autosomal recessive – both parents must pass on the gene change
• X-linked – gene change on the X chromosome, mainly affecting males; females can be carriers with variable expression

The same gene change can cause different symptoms and vision loss in each person, even in one family.

IRD changes often damage rods (night vision) and cones (color and sharp vision), leading to vision problems. The degree of damage to rods and cones varies depending on the type of IRD.

How fast IRDs progress varies because of other genes, environment, and lifestyle. We help you plan ongoing care.

Low-vision specialists and tools help you stay independent as vision changes.

Devices like electronic magnifiers and screen readers make daily tasks easier.

Unlike age-related macular degeneration, vitamins have limited proof in IRDs. High-dose vitamin A is not advised broadly and may be harmful in ABCA4-related disease (Stargardt); historical vitamin A use in RP is controversial and genotype-dependent, and data for lutein/zeaxanthin or DHA are mixed, plans are reviewed case by case.

For complications like swelling or detachment, we offer injections, laser, or surgery to protect vision. These treatments address complications but do not change the underlying genetic condition.

FDA-approved voretigene neparvovec (Luxturna) treats biallelic RPE65 mutation–associated retinal dystrophy in patients with sufficient viable retinal cells; eligibility is genotype- and viability-specific and not all IRDs qualify.

We connect you to studies on stem cells, retinal implants, optogenetics, and other new therapies. Programs such as the My Retina Tracker Registry and sponsored genetic-testing initiatives help confirm your genotype and connect you with appropriate studies.

We link you with counselors, support groups, and resources for mental health and family support.