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Retinitis pigmentosa 1(RP1)

MedGen UID:
67395
Concept ID:
C0220701
Disease or Syndrome
Synonym: RP1
 
Gene (location): RP1 (8q11.23-12.1)
 
Monarch Initiative: MONDO:0008377
OMIM®: 180100

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene. [from MONDO]

Clinical features

From HPO
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
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.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
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.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
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).
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Undetectable light- and dark-adapted electroretinogram
MedGen UID:
867212
Concept ID:
C4021570
Finding
Absence of the combined rod-and-cone response on electroretinogram.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Thenappan A
Methods Mol Biol 2023;2560:353-361. doi: 10.1007/978-1-0716-2651-1_32. PMID: 36481910
Chen CJ, Scholl HP, Birch DG, Iwata T, Miller NR, Goldberg MF
Arch Ophthalmol 2012 Dec;130(12):1554-9. doi: 10.1001/archophthalmol.2012.2683. PMID: 23229695Free PMC Article

Recent clinical studies

Etiology

Zobor D, Zobor G, Hipp S, Baumann B, Weisschuh N, Biskup S, Sliesoraityte I, Zrenner E, Kohl S
Invest Ophthalmol Vis Sci 2018 Jun 1;59(7):3041-3052. doi: 10.1167/iovs.18-24033. PMID: 30025130
Ahn SJ, Cho SI, Ahn J, Park SS, Park KH, Woo SJ
Invest Ophthalmol Vis Sci 2013 Jul 18;54(7):4856-63. doi: 10.1167/iovs.13-11643. PMID: 23745001
Xiang F, Yan M, Song G, Zheng F
Genetika 2012 Jan;48(1):125-9. PMID: 22567862
Zhang X, Chen LJ, Law JP, Lai TY, Chiang SW, Tam PO, Chu KY, Wang N, Zhang M, Pang CP
Mol Vis 2010 Jul 15;16:1353-60. PMID: 20664799Free PMC Article
Gao J, Cheon K, Nusinowitz S, Liu Q, Bei D, Atkins K, Azimi A, Daiger SP, Farber DB, Heckenlively JR, Pierce EA, Sullivan LS, Zuo J
Proc Natl Acad Sci U S A 2002 Apr 16;99(8):5698-703. doi: 10.1073/pnas.042122399. PMID: 11960024Free PMC Article

Diagnosis

Luoma-Overstreet G, Jewell A, Brar V, Couser N
Ophthalmic Genet 2022 Oct;43(5):703-708. Epub 2022 Jun 29 doi: 10.1080/13816810.2022.2089361. PMID: 35765812
Kurata K, Hosono K, Hotta Y
Doc Ophthalmol 2018 Aug;137(1):47-56. Epub 2018 Jul 19 doi: 10.1007/s10633-018-9649-7. PMID: 30027431
Siemiatkowska AM, Astuti GD, Arimadyo K, den Hollander AI, Faradz SM, Cremers FP, Collin RW
Mol Vis 2012;18:2411-9. Epub 2012 Oct 3 PMID: 23077400Free PMC Article
Kim C, Kim KJ, Bok J, Lee EJ, Kim DJ, Oh JH, Park SP, Shin JY, Lee JY, Yu HG
Mol Vis 2012;18:2398-410. Epub 2012 Sep 25 PMID: 23049240Free PMC Article
Grøndahl J, Riise R, Heiberg A, Leren T, Christoffersen T, Bragadottir R
Acta Ophthalmol Scand 2007 May;85(3):287-97. doi: 10.1111/j.1600-0420.2006.00820.x. PMID: 17488458

Therapy

Takahashi H, Hayashi T, Tsuneoka H, Nakano T, Yamada H, Katagiri S, Fujino Y, Noda Y, Yoshimoto M, Kawashima H
Doc Ophthalmol 2014 Aug;129(1):49-56. Epub 2014 May 17 doi: 10.1007/s10633-014-9443-0. PMID: 24838559

Prognosis

Kurata K, Hosono K, Hotta Y
Doc Ophthalmol 2018 Aug;137(1):47-56. Epub 2018 Jul 19 doi: 10.1007/s10633-018-9649-7. PMID: 30027431
Ahn SJ, Cho SI, Ahn J, Park SS, Park KH, Woo SJ
Invest Ophthalmol Vis Sci 2013 Jul 18;54(7):4856-63. doi: 10.1167/iovs.13-11643. PMID: 23745001
Zhang X, Chen LJ, Law JP, Lai TY, Chiang SW, Tam PO, Chu KY, Wang N, Zhang M, Pang CP
Mol Vis 2010 Jul 15;16:1353-60. PMID: 20664799Free PMC Article
Grøndahl J, Riise R, Heiberg A, Leren T, Christoffersen T, Bragadottir R
Acta Ophthalmol Scand 2007 May;85(3):287-97. doi: 10.1111/j.1600-0420.2006.00820.x. PMID: 17488458
Bowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, Hughbanks-Wheaton D, Birch DG, Liu Q, Pierce EA, Zuo J, Huang Q, Donovan DD, Sullivan LS
Mol Vis 2003 Apr 24;9:129-37. PMID: 12724644Free PMC Article

Clinical prediction guides

Ahn SJ, Cho SI, Ahn J, Park SS, Park KH, Woo SJ
Invest Ophthalmol Vis Sci 2013 Jul 18;54(7):4856-63. doi: 10.1167/iovs.13-11643. PMID: 23745001
Chen CJ, Scholl HP, Birch DG, Iwata T, Miller NR, Goldberg MF
Arch Ophthalmol 2012 Dec;130(12):1554-9. doi: 10.1001/archophthalmol.2012.2683. PMID: 23229695Free PMC Article
Zhang X, Chen LJ, Law JP, Lai TY, Chiang SW, Tam PO, Chu KY, Wang N, Zhang M, Pang CP
Mol Vis 2010 Jul 15;16:1353-60. PMID: 20664799Free PMC Article
Gandra M, Anandula V, Authiappan V, Sundaramurthy S, Raman R, Bhattacharya S, Govindasamy K
Mol Vis 2008 Jun 14;14:1105-13. PMID: 18552984Free PMC Article
Bowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, Hughbanks-Wheaton D, Birch DG, Liu Q, Pierce EA, Zuo J, Huang Q, Donovan DD, Sullivan LS
Mol Vis 2003 Apr 24;9:129-37. PMID: 12724644Free PMC Article

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