Retinitis pigmentosa 18(RP18)

MedGen UID:: 371314
•Concept ID:: C1832378
•: Disease or Syndrome

Synonyms:	PRPF 3-Related Retinitis Pigmentosa; RP 18; RP18

Gene (location): Gene(s) directly associated with this condition or phenotype.	PRPF3 (1q21.2)

Monarch Initiative:	MONDO:0011075
OMIM®:	601414

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene. [from MONDO]

Clinical features

From HPO

Retinal arteriolar constriction

MedGen UID:: 853673
•Concept ID:: C2176208
•: Finding

Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.

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Night blindness

MedGen UID:: 10349
•Concept ID:: C0028077
•: Disease or Syndrome

Inability to see well at night or in poor light.

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Scotoma

MedGen UID:: 19902
•Concept ID:: C0036454
•: Finding

A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.

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Progressive visual field defects

MedGen UID:: 870317
•Concept ID:: C4024760
•: Finding

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Rod-cone dystrophy

MedGen UID:: 1632921
•Concept ID:: C4551714
•: 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.

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Abnormality of the cardiovascular system
- Retinal arteriolar constriction
Abnormality of the eye

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRetinitis pigmentosa

Pathological process
- Disease
  - Disorder by Site
    - Disorder of orbital region
      - Hereditary eye diseases
        Retinitis pigmentosa
        Retinitis pigmentosa 18

Professional guidelines

PubMed

Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis.

Bea-Mascato B, Valverde D
J Med Genet 2023 Dec 21;61(1):18-26. doi: 10.1136/jmg-2023-109175. PMID: 37321834 Free PMC Article

Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.

Sakai D, Hiraoka M, Matsuzaki M, Yokota S, Hirami Y, Onishi A, Nakamura M, Takahashi M, Kurimoto Y, Maeda A
Jpn J Ophthalmol 2023 Mar;67(2):138-148. Epub 2023 Jan 17 doi: 10.1007/s10384-023-00975-y. PMID: 36648560

Review of Genotype-Phenotype Correlations in Usher Syndrome.

Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X
Ear Hear 2022 Jan/Feb;43(1):1-8. doi: 10.1097/AUD.0000000000001066. PMID: 34039936 Free PMC Article

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