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Condition report · Ophthalmological

CACNA2D4-Related Retinopathy

A rare inherited eye condition affecting the cone cells of the retina, reducing cone-mediated vision. It is caused by changes in both copies of CACNA2D4, a gene needed for signalling between light-sensing cells and the rest of the retina.

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of CACNA2D4, which encodes part of a calcium channel at the photoreceptor synapse. Loss of the channel impairs signal transmission from photoreceptors, especially cones.

Signs and symptoms

Reduced cone-mediated vision has been reported, and retinitis pigmentosa has been described in one family. Human clinical data are limited.

What a diagnosis changes

Regular eye assessment and low-vision aids help with daily life. Both parents are usually carriers, so genetic counselling and carrier testing for relatives are offered.

Genes analysed

Includes 1 related subtype ↓
  • retinal cone dystrophy 4
MONDO:0700244Sources: [2][1][3][4]

References

  1. Schlegel DK, Glasauer SMK, Mateos JM, Barmettler G, Ziegler U, Neuhauss SCF, 2020. A New Zebrafish Model for CACNA2D4-Dysfunction. Investigative ophthalmology & visual science
  2. Cheng J, Zhou Q, Fu J, Wei C, Zhang L, Khan MSS et al., 2022. Novel compound heterozygous missense variants (c.G955A and c.A1822C) of CACNA2D4 likely causing autosomal recessive retinitis pigmentosa in a Chinese patient. 3 Biotech
  3. Laird JG, Kopel A, Lankford CK, Baker SA, 2026. Mouse all-cone retina models of Cav1.4 synaptopathy. Frontiers in molecular neuroscience
  4. Wycisk KA, Budde B, Feil S, Skosyrski S, Buzzi F, Neidhardt J et al., 2006. Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Investigative ophthalmology & visual science

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