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Retinitis pigmentosa 2(RP2)

MedGen UID:
394544
Concept ID:
C2681923
Disease or Syndrome
Synonyms: Retinitis pigmentosa 2, X linked; RP2
 
Gene (location): RP2 (Xp11.3)
 
Monarch Initiative: MONDO:0010723
OMIM®: 312600

Definition

Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

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.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Central scotoma
MedGen UID:
57750
Concept ID:
C0152191
Finding
An area of depressed vision located at the point of fixation and that interferes with central 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.
High myopia
MedGen UID:
78759
Concept ID:
C0271183
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
Ring scotoma
MedGen UID:
140951
Concept ID:
C0438434
Finding
An annular field defect centered on fixation.
Chorioretinal degeneration
MedGen UID:
99273
Concept ID:
C0521683
Pathologic Function
Pericentral scotoma
MedGen UID:
231156
Concept ID:
C1321308
Finding
A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.
Bull eye maculopathy
MedGen UID:
321812
Concept ID:
C1828210
Finding
Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
Fundus atrophy
MedGen UID:
382226
Concept ID:
C2673929
Finding
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.
Pigmentary retinopathy
MedGen UID:
1643295
Concept ID:
C4551715
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Fujinami K, Liu X, Ueno S, Mizota A, Shinoda K, Kuniyoshi K, Fujinami-Yokokawa Y, Yang L, Arno G, Pontikos N, Kameya S, Kominami T, Terasaki H, Sakuramoto H, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Yoshiake K, Iwata T, Tsunoda K; Japan Eye Genetics Consortium Study Group
Am J Med Genet C Semin Med Genet 2020 Sep;184(3):675-693. Epub 2020 Sep 1 doi: 10.1002/ajmg.c.31830. PMID: 32875684
Parmeggiani F, Barbaro V, Migliorati A, Raffa P, Nespeca P, De Nadai K, Del Vecchio C, Palù G, Parolin C, Di Iorio E
Eur J Ophthalmol 2017 Mar 10;27(2):240-248. Epub 2016 Oct 21 doi: 10.5301/ejo.5000879. PMID: 27768226
Rosenberg T, Schwahn U, Feil S, Berger W
Ophthalmic Genet 1999 Sep;20(3):161-72. doi: 10.1076/opge.20.3.161.2278. PMID: 10520237

Recent clinical studies

Etiology

Tawfik CA, Roshdy MM, Morris NM
BMC Ophthalmol 2023 Oct 20;23(1):422. doi: 10.1186/s12886-023-03163-1. PMID: 37864132Free PMC Article
Miranda-Furtado CL, Luchiari HR, Chielli Pedroso DC, Kogure GS, Caetano LC, Santana BA, Santana VP, Benetti-Pinto CL, Reis FM, Maciel MA, Ferriani RA, Ramos ES, Calado RT, Dos Reis RM
Fertil Steril 2018 Aug;110(3):476-485.e1. doi: 10.1016/j.fertnstert.2018.04.017. PMID: 30098699
Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP
Invest Ophthalmol Vis Sci 2013 Feb 19;54(2):1411-6. doi: 10.1167/iovs.12-11541. PMID: 23372056Free PMC Article
Hurd TW, Fan S, Margolis BL
J Cell Sci 2011 Mar 1;124(Pt 5):718-26. Epub 2011 Feb 1 doi: 10.1242/jcs.070839. PMID: 21285245Free PMC Article
Rosenberg T, Schwahn U, Feil S, Berger W
Ophthalmic Genet 1999 Sep;20(3):161-72. doi: 10.1076/opge.20.3.161.2278. PMID: 10520237

Diagnosis

Tawfik CA, Roshdy MM, Morris NM
BMC Ophthalmol 2023 Oct 20;23(1):422. doi: 10.1186/s12886-023-03163-1. PMID: 37864132Free PMC Article
Fu YC, Chen N, Qiu ZL, Liu L, Shen J
Mol Med Rep 2018 Dec;18(6):5016-5022. Epub 2018 Oct 2 doi: 10.3892/mmr.2018.9530. PMID: 30280194Free PMC Article
Miranda-Furtado CL, Luchiari HR, Chielli Pedroso DC, Kogure GS, Caetano LC, Santana BA, Santana VP, Benetti-Pinto CL, Reis FM, Maciel MA, Ferriani RA, Ramos ES, Calado RT, Dos Reis RM
Fertil Steril 2018 Aug;110(3):476-485.e1. doi: 10.1016/j.fertnstert.2018.04.017. PMID: 30098699
Parmeggiani F, Barbaro V, Migliorati A, Raffa P, Nespeca P, De Nadai K, Del Vecchio C, Palù G, Parolin C, Di Iorio E
Eur J Ophthalmol 2017 Mar 10;27(2):240-248. Epub 2016 Oct 21 doi: 10.5301/ejo.5000879. PMID: 27768226
Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP
Invest Ophthalmol Vis Sci 2013 Feb 19;54(2):1411-6. doi: 10.1167/iovs.12-11541. PMID: 23372056Free PMC Article

Prognosis

Gong Y, Ke Y, Yu Z, Pan J, Zhou X, Jiang Y, Zhou M, Zeng H, Geng X, Hu G
Aging (Albany NY) 2023 Aug 18;15(16):8155-8184. doi: 10.18632/aging.204962. PMID: 37602882Free PMC Article
Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W
Nat Genet 1998 Aug;19(4):327-32. doi: 10.1038/1214. PMID: 9697692
Fisher SE, Ciccodicola A, Tanaka K, Curci A, Desicato S, D'urso M, Craig IW
Genomics 1997 Oct 15;45(2):340-7. doi: 10.1006/geno.1997.4941. PMID: 9344658
Friedrich U, Warburg M, Jørgensen AL
Hum Genet 1993 Oct;92(4):359-63. doi: 10.1007/BF01247335. PMID: 8225316

Clinical prediction guides

Miranda-Furtado CL, Luchiari HR, Chielli Pedroso DC, Kogure GS, Caetano LC, Santana BA, Santana VP, Benetti-Pinto CL, Reis FM, Maciel MA, Ferriani RA, Ramos ES, Calado RT, Dos Reis RM
Fertil Steril 2018 Aug;110(3):476-485.e1. doi: 10.1016/j.fertnstert.2018.04.017. PMID: 30098699
Parmeggiani F, Barbaro V, De Nadai K, Lavezzo E, Toppo S, Chizzolini M, Palù G, Parolin C, Di Iorio E
Sci Rep 2016 Dec 20;6:39179. doi: 10.1038/srep39179. PMID: 27995965Free PMC Article
Li L, Rao KN, Zheng-Le Y, Hurd TW, Lillo C, Khanna H
Cytoskeleton (Hoboken) 2015 Sep;72(9):447-54. Epub 2015 Oct 14 doi: 10.1002/cm.21255. PMID: 26383048Free PMC Article
Mookherjee S, Hiriyanna S, Kaneshiro K, Li L, Li Y, Li W, Qian H, Li T, Khanna H, Colosi P, Swaroop A, Wu Z
Hum Mol Genet 2015 Nov 15;24(22):6446-58. Epub 2015 Sep 10 doi: 10.1093/hmg/ddv354. PMID: 26358772Free PMC Article
Rosenberg T, Schwahn U, Feil S, Berger W
Ophthalmic Genet 1999 Sep;20(3):161-72. doi: 10.1076/opge.20.3.161.2278. PMID: 10520237

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