A constellation of inherited retinal diseases (IRDs).

Inherited retinal diseases (also called inherited retinal dystrophies, or IRDs) are a group of rare eye disorders caused by an inherited gene mutation and can result in vision loss or blindness.1

Some people with inherited retinal diseases, for instance those with retinitis pigmentosa (RP) or choroideremia (CHM), experience a gradual loss of vision, eventually leading to complete blindness.1-3 Others, with conditions like Leber congenital amaurosis (LCA), may be born with or experience vision loss in infancy or early childhood.4

 

Common IRDs

Retinitis Pigmentosa

This group of inherited, progressive eye diseases appear when the light-sensing cells of the retina—the rod and the cone photoreceptors—begin to deteriorate. Night blindness (nyctalopia) in childhood or early adulthood is typically the first symptom. As the disease progresses, those with RP experience loss in their peripheral vision, developing tunnel vision. Eventually, they lose their central vision as well, resulting in total blindness.3

Retinitis Pigmentosa (RP)

Leber Congenital Amaurosis

Appearing in infancy or early childhood, LCA can result from mutations in more than 19 genes and causes severe visual impairment in infants, leading to eventual childhood blindness. Babies frequently have “wiggly eyes” (nystagmus, or involuntary back-and-forth eye movement), signs of night blindness (nyctalopia), decreased light sensitivity, and a tendency to rub, press, or poke their eyes with their fingers.4

Leber Congenital Amaurosis (LCA)

Cone-Rod Dystrophy

Cone-rod dystrophy begins in childhood and differs from other IRDs by the order in which parts of the eye experience deterioration—cone photoreceptors first, followed by rod photoreceptors. This leads to an associated switch in the onset of symptoms. Patients initially lose color vision and central vision, followed by progressive loss of peripheral vision.5

Cone-Rod Dystrophy (CRD)

Juvenile Macular Degeneration

As the name implies, JMD is a result of the degeneration of the macula. Unlike age-related macular degeneration (AMD or ARMD), JMD is a childhood disease, while AMD typically occurs in a patient’s 60s or 70s.6 Stargardt disease is the most common type of juvenile macular degeneration and typically develops in childhood or the teen years.7

Juvenile Macular Degeneration (JMD)

Choroideremia

This X-linked disease begins in childhood and is caused by the degeneration of the choroid and retinal cells. Night blindness (nyctalopia) tends to be the first symptom, followed by tunnel vision and, later, central vision loss. The vast majority of patients with CHM are male, though a small minority of female carriers may also suffer from disease symptoms.2,8

Choroideremia (CHM)

Is age-related macular degeneration (AMD or ARMD) an inherited retinal disease?

Unlike juvenile macular degeneration, age-related macular degeneration is not caused by a mutation in a single gene, but may be due to genetics, environmental factors, or lifestyle choices (such as smoking).6 There are a number of good resources for anyone living with AMD/ARMD, including the websites for the Foundation Fighting Blindness (FFB) and the American Macular Degeneration Foundation.

 

Your IRD community.

These are rare conditions. In fact, retinitis pigmentosa—one of the most common inherited retinal diseases—only affects 1 in 3500 people in the U.S. and Europe.9 Despite this rarity, you are not alone. No matter which condition brought you into the IRD community, you are connected to each other by shared experiences, and hope that research may lead to potential new treatment options.

 
 
 Your IRD Community
 
 
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References:

  1. Sahel J, Marazova S, et al. Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations. Cold Spring Harb Perspect Med doi: 10.1101/cshperspect.a017111.
  2. National Institutes of Health. National Library of Medicine. Genetics Home Reference “Choroideremia.” https://ghr.nlm.nih.gov/condition/choroideremia. Reviewed July 2013. Accessed October 10, 2018.
  3. Nash, BM, Wright, DC, et al. Retinal dystrophies, genomic applications in diagnosis and prospects for therapy. Trans Pediatr 2015;4(2):139-163.
  4. National Institutes of Health. National Library of Medicine. Genetics Home Reference “Leber congenital amaurosis.” http://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis. Reviewed August 2010. Accessed September 20, 2018.
  5. Hamel, CP. Cone rod dystrophies. Orphanet J Rare Dis. 2007; 2:7. National Institutes of Health, U.S. National Library of Medicine. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1808442. Accessed September 20, 2018.
  6. National Institutes of Health. National Library of Medicine. Genetics Home Reference “Age-related macular degeneration.” https://ghr.nlm.nih.gov/condition/age-related-macular-degeneration#definition. Reviewed August 2016. Accessed September 20, 2018.
  7. National Institutes of Health. National Library of Medicine. Genetics Home Reference “Stargardt macular degeneration.” https://ghr.nlm.nih.gov/condition/stargardt-macular-degeneration#definition. Reviewed November 2010. Accessed September 20, 2018.
  8. The Choroideremia Research Foundation Inc. “What is Choroideremia.” http://curechm.org/what-is-choroideremia. Accessed September 20, 2018.
  9. National Institutes of Health. National Library of Medicine. Genetics Home Reference “Retinitis pigmentosa.” http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa#statistics. Reviewed October 2010. Accessed September 20, 2018.