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Retinitis pigmentosa 79(RP79)

MedGen UID:
1386200
•Concept ID:
C4479526
•
Disease or Syndrome
Synonym: RP79
 
Gene (location): HK1 (10q22.1)
 
Monarch Initiative: MONDO:0044320
OMIM®: 617460

Clinical features

From HPO
Photophobia
MedGen UID:
43220
•Concept ID:
C0085636
•
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
See: Feature record | Search on this feature
Night blindness
MedGen UID:
10349
•Concept ID:
C0028077
•
Disease or Syndrome
Inability to see well at night or in poor light.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Constriction of peripheral visual field
MedGen UID:
68613
•Concept ID:
C0235095
•
Finding
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.
See: Feature record | Search on this feature
Macular atrophy
MedGen UID:
140841
•Concept ID:
C0423421
•
Finding
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
See: Feature record | Search on this feature
Optic disc pallor
MedGen UID:
108218
•Concept ID:
C0554970
•
Finding
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.
See: Feature record | Search on this feature
Bone spicule pigmentation of the retina
MedGen UID:
323029
•Concept ID:
C1836926
•
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
See: Feature record | Search on this feature
Attenuation of retinal blood vessels
MedGen UID:
480605
•Concept ID:
C3278975
•
Finding
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.
Long X, Xiong W, Wang X, Geng J, Zhong M, Huang Y, Liu M, Bu F, Cheng J, Lu Y, Yuan H
BMC Med Genomics 2024 Aug 9;17(1):203. doi: 10.1186/s12920-024-01984-7. PMID: 39123271Free PMC Article

Recent clinical studies

Etiology

Eleven-year follow-up of a Japanese retinitis pigmentosa patient with an HK1 gene mutation.
Sato S, Morimoto T, Hotta K, Fujikado T, Nishida K
Ophthalmic Genet 2019 Oct;40(5):466-469. Epub 2019 Oct 17 doi: 10.1080/13816810.2019.1678179. PMID: 31621442

Diagnosis

Eleven-year follow-up of a Japanese retinitis pigmentosa patient with an HK1 gene mutation.
Sato S, Morimoto T, Hotta K, Fujikado T, Nishida K
Ophthalmic Genet 2019 Oct;40(5):466-469. Epub 2019 Oct 17 doi: 10.1080/13816810.2019.1678179. PMID: 31621442

Prognosis

Eleven-year follow-up of a Japanese retinitis pigmentosa patient with an HK1 gene mutation.
Sato S, Morimoto T, Hotta K, Fujikado T, Nishida K
Ophthalmic Genet 2019 Oct;40(5):466-469. Epub 2019 Oct 17 doi: 10.1080/13816810.2019.1678179. PMID: 31621442

Clinical prediction guides

Eleven-year follow-up of a Japanese retinitis pigmentosa patient with an HK1 gene mutation.
Sato S, Morimoto T, Hotta K, Fujikado T, Nishida K
Ophthalmic Genet 2019 Oct;40(5):466-469. Epub 2019 Oct 17 doi: 10.1080/13816810.2019.1678179. PMID: 31621442

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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