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Retinitis pigmentosa 79(RP79)

MedGen UID:: 1386200
•Concept ID:: C4479526
•: Disease or Syndrome

Synonym:	RP79

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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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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Reduced visual acuity

MedGen UID:: 65889
•Concept ID:: C0234632
•: Finding

Diminished clarity of vision.

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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.

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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.

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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.

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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).

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Attenuation of retinal blood vessels

MedGen UID:: 480605
•Concept ID:: C3278975
•: Finding

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Abnormality of the eye
Abnormality of the nervous system
- Photophobia

Professional guidelines

PubMed

Ultra-widefield fundus autofluorescence imaging in patients with autosomal recessive retinitis pigmentosa reveals a genotype-phenotype correlation.

Patal R, Banin E, Batash T, Sharon D, Levy J
Graefes Arch Clin Exp Ophthalmol 2022 Nov;260(11):3471-3478. Epub 2022 May 2 doi: 10.1007/s00417-022-05683-w. PMID: 35501492

Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

Huang XF, Huang F, Wu KC, Wu J, Chen J, Pang CP, Lu F, Qu J, Jin ZB
Genet Med 2015 Apr;17(4):271-8. Epub 2014 Nov 6 doi: 10.1038/gim.2014.138. PMID: 25356976

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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

See all (1)

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

See all (1)

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

See all (1)

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

See all (1)

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Retinitis pigmentosa 79(RP79)

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

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