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Diagram showing the different types of inherited retinal dystrophy, the gene mutations that cause them and the overlap between different IRDs
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Inherited retinal dystrophy: an overview

IRDs are a group of rare diseases associated with an inherited gene mutation affecting the retina that involve deterioration of vision and result in eventual blindness.1–4

Different forms of IRD differ in onset, severity, and progression of the diseases depending on the type of mutation and the cells affected.2,3,5–7

IRDs are characterised by the progressive deterioration of rods and cones.5

There are currently over 260 genes that have been identified as being associated with IRD.8

Different forms of IRD have different inheritance patterns depending on the mutations responsible.9–13 For example, Usher syndrome is always caused by an autosomal recessive mutation, although not always in the same gene.10  Others, such as Leber congenital amaurosis, are usually autosomal recessive inheritance but can also present in autosomal dominant forms.11

Retinitis pigmentosa, which is more of a collection of degenerations, can be autosomal recessive, autosomal dominant or X-linked depending on the specific mutation(s) and genes involved.5,9 

Common forms of IRD

Common forms of IRD
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IRD and genetic testing

IRDs have overlapping signs and symptoms that can make it difficult to be sure about a confirmed diagnosis: a genetic test helps to unlock a diagnosis for your patient2,4 

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There are over 260 genes currently associated with IRD8

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A genetic test is the only way to confirm the genetic cause of a patient’s disease2,4

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90% of people with IRD are interested in having a genetic diagnosis for their disease14

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A genetic diagnosis can help understand the patient’s prognosis and guide more personalised disease management2,3,5

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Gaining more knowledge about their disease helps patients by removing uncertainty and giving them more information about their options4,14

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A specific diagnosis can help relieve anxiety and stress that uncertainty about their condition causes15,16

References
1. Russell S, et al. The Lancet 2017; 390(10097): 849–60.
2. Lee K, Garg S. Genet Med 2015; 17(4): 245–52.
3. Chung DC, et al. Am J Ophthalmol 2019; 199: 58–70.
4. Duncan JL, et al. Transl Vis Sci Technol 2018; 7(4): 6.
5. Sahel JA, et al. Cold Spring Harb Perspect Biol 2015; 5(2): a017111.
6. Nash BM, et al. Transl Pediatr 2015; 4(2): 139–63.
7. Chacon-Camacho OF, Zenteno JC. World J Clin Cases 2015; 3(2): 112–24.
8. RetNet. Available at: https://sph.uth.edu/retnet/sum-dis.htm Accessed April 2020.
9. Menghini M, et al. Expert Opin Orphan Drugs 2020; 8(2–3): 67–78.
10. Mathur P & Yang J. Biochim Biophys Acta 2015; 1852(3): 404–20.
11. Kumaran N, et al. Br J Ophthalmol 2017; 101: 1147–54.
12. Tsang T, Sharma T. Adv Exp Med Biol 2018; 1085: 139–51.
13. Tanna P, et al. Br J Ophthalmol 2017 Jan; 101(1): 25–30.
14. Willis TA, et al. Br J Ophthalmol 2013; 97(9): 1148–54.
15. Rare Disease UK. Rare Disease Impact Report. Available at:
https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf Accessed March 2020.
16. Nunn R. Orphanet J Rare Dis 2017; 12: 29. 

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