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Retinitis pigmentosa 26(RP26)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: RP 26; RP26
Gene (location): CERKL (2q31.3)
Monarch Initiative: MONDO:0012024
OMIM®: 608380


Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene. [from MONDO]

Clinical features

From HPO
Constriction of peripheral visual field
MedGen UID:
Concept ID:
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Optic disc pallor
MedGen UID:
Concept ID:
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Attenuation of retinal blood vessels
MedGen UID:
Concept ID:
Visual impairment
MedGen UID:
Concept ID:
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Undetectable light- and dark-adapted electroretinogram
MedGen UID:
Concept ID:
Absence of the combined rod-and-cone response on electroretinogram.
Rod-cone dystrophy
MedGen UID:
Concept ID:
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines


Kuehlewein L, Straßer T, Blumenstock G, Stingl K, Fischer MD, Wilhelm B, Zrenner E, Wissinger B, Kohl S, Weisschuh N, Zobor D; RD-CURE Consortium
Invest Ophthalmol Vis Sci 2022 May 2;63(5):9. doi: 10.1167/iovs.63.5.9. PMID: 35533076Free PMC Article
Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178
Xuan W, Moothedathu AA, Meng T, Gibson DC, Zheng J, Xu Q
Drug Discov Today 2021 Jan;26(1):181-188. Epub 2020 Oct 7 doi: 10.1016/j.drudis.2020.09.034. PMID: 33038525Free PMC Article

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