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Inherited retinal dystrophies are a major cause of familial blindness.1

Inherited retinal dystrophies (IRDs) are a diverse group of degenerative eye diseases usually leading to eventual blindness.1

 

Anatomical image of the eye.

Inherited retinal dystrophies have overlapping signs and symptoms2–4

  • Associated with >270 genes.5

The clinical classification of an IRD relies on a variety of features1:

  • Primary target cell (cones vs rods);
  • Primarily targeted retinal region (macula vs periphery);
  • Age of onset and severity of visual impairment;
  • Absence/presence of extra-retinal clinical involvement (isolated vs syndromic forms).
 

IRD phenotypes1,5,6

  • Retinitis pigmentosa
  • Leber congenital amaurosis
  • Congenital stationary night blindness
  • Achromatopsia (colour blindness)
  • Choroideremia
  • Stargardt disease
  • Best disease
  • Sorsby fundus dystrophy
  • Usher syndrome
  • Bardet-Biedl syndrome
 
 

 

  • The majority of patients (>50%) have vision impairment in early childhood.1,4,7
    • Early-onset IRDs can progress quickly, leading to legal blindness in early adulthood.4,7

 

  • IRDs result in progressive loss of rods and/or cones.1

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Permit earlier intervention8

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Improve accuracy of prognosis, decision-making and management8

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Address uncertainty8

 

IRD patients can exhibit:

Vision impairment:

 

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Loss of visual acuity1,4,7

Young children: <20/200*
Adolescents/adults: 20/200 or worse

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Restricted visual fields1,4,7

Patients may report that they have “tunnel vision”.
Parents may report young children bump into things in low light.

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Reduced colour vision1,4,7

 

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Night blindness1,4,7

Nyctalopia; common aspect of a rod-cone dystrophy.

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Difficulty with dark adaptation1,7,9

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Light sensitivity (photophobia)7,9

 
 

 

Fundus abnormalities:

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Fundus abnormalities1,4,7†

Pigmentary changes, retinal atrophy, vessel attenuation, optic nerve pallor.

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Lack of fundus autofluorescence1,4,7

 
 

Physical abnormalities:

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Nystagmus1,4,7

Uncontrolled/repetitive eye movements.
Early onset in children (common aspect of a rod-cone dystrophy). 

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Failure to fix and follow10

In infants.

 
 

*Young children can often present with near-normal VA.
This image was originally published in the Retina Image Bank. David Callan, MD. Retinitis Pigmentosa. Retina Image Bank. 2014;17341. © The American Society of Retina Specialists.

ERG, Electroretinogram; IRD, inherited retinal dystrophy; VA, visual acuity.

References     

  1. Sahel JA Cold Spring Harb Perspect Biol 2015;5.2:a017111.     
  2. Lee K and Garg S Genet Med 2015;17(4):245.     
  3. Khan Z et al. Int J Adv Med 2016;1–8.     
  4. Di Ioro V et al. Genes 2017;8:280–297.     
  5. RetNet. https://sph.uth.edu/retnet/sum-dis.htm#A-genes (accessed March 2020).     
  6. Nash BM et al. Transl Pediatr 2015;4(2):139.     
  7. Chung D et al. Am J Ophthalmol 2019;199:58–70.     
  8. American Academy of Ophthalmology®, IRD Clinical Statement. 2016. https://www.aao.org/clinical-statement/recommendations-on-clinica-lasses... (accessed March 2020).     
  9. Fahim AT et al. 2000. https://www. ncbi.nlm.nih.gov/books/NBK1417/ (accessed March 2020).     
  10. Cideciyan AV. Prog Retin Eye Res 2010;29(5):398–427.
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