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    EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones
    1
    1. ClingenBaseline 21 Oct 2026
      EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones

      PMID: 27846257

      Gene: EYS

      HGNC: 21555

      Disease: Retinitis pigmentosa 25

      MONDO: MONDO:0011272

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa caused by homozygous or compound heterozygous EYS variants is estimated to be 12% in the French population (PMID: 20333770), implying in an overall prevalence between 1 in 25,000 and 1 in 33,000.

      Penetrance: The disease appears to be completely penetrant among published families.

      General ClinGen Gene:EYS HGNC:21555 inferred_gene_hgnc:21555 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC5112921/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish
    1
    1. ClingenBaseline 21 Oct 2026
      Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish

      PMID: 27737822

      Gene: EYS

      HGNC: 21555

      Disease: Retinitis pigmentosa 25

      MONDO: MONDO:0011272

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa caused by homozygous or compound heterozygous EYS variants is estimated to be 12% in the French population (PMID: 20333770), implying in an overall prevalence between 1 in 25,000 and 1 in 33,000.

      Penetrance: The disease appears to be completely penetrant among published families.

      General ClinGen Gene:EYS HGNC:21555 inferred_gene_hgnc:21555 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC5155541/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa
    1
    1. ClingenBaseline 21 Oct 2026
      Subcellular localization of spam to the outer segment of mature porcine retina using antibody to spam (green) and antibody to rhodopsin (red). The overlay shows the localization of spam in the same region as rhodopsin (yellow) in the outer segment of the photoreceptor cell layer.

      Selection B- Gene function is consistent with phenotype.

      GOterm: GO:0001750 (cellular component of the photoreceptor outer segment)

      FunctionalEvidence: Immunofluorescent staining of mature porcine retina tissues with an antibody to the EYS protein shows subcellular localization to the outer segment specifically (Figure 2b). This region of the retina holds the light-absorbing, ciliated part of the photoreceptor cells, and localization / function in this region is consistent with the rod and cone photoreceptor dysfunction phenotypes found in the human patients.

      FunctionalHPO: Nyctalopia HP:0000662, Undetectable electroretinogram HP:0000550, Reduced visual acuity HP:0007663

      Experimental Function BiochemicalFunction Gene:EYS HGNC:21555 inferred_gene_hgnc:21555 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC2719291/