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Retinitis pigmentosa 9(RP9)

MedGen UID:
356743
Concept ID:
C1867300
Disease or Syndrome
Synonyms: RP 9; RP9
 
Gene (location): RP9 (7p14.3)
 
Monarch Initiative: MONDO:0008378
OMIM®: 180104

Definition

Autosomal dominant retinitis pigmentosa (ADRP) is characterized by a typical fundus appearance, narrowed retinal vessels, and changes in the electrophysiological responses of the eye. Early signs are night blindness and constriction of the visual fields with a variable ages of onset (summary by Jay et al., 1992). [from OMIM]

Clinical features

From HPO
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.
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.
Macular edema
MedGen UID:
75732
Concept ID:
C0271051
Disease or Syndrome
Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease.
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.
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).
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

Nguyen XT, Moekotte L, Plomp AS, Bergen AA, van Genderen MM, Boon CJF
Int J Mol Sci 2023 Apr 19;24(8) doi: 10.3390/ijms24087481. PMID: 37108642Free PMC Article
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Daich Varela M, Georgiadis A, Michaelides M
Br J Ophthalmol 2023 Sep;107(9):1223-1230. Epub 2022 Aug 29 doi: 10.1136/bjo-2022-321903. PMID: 36038193

Recent clinical studies

Etiology

Gao G, Ouyang C, Dai J, Xue F, Wang X, Zou L, Chen M, Ma F, Yu M
BMC Ophthalmol 2015 Mar 3;15:16. doi: 10.1186/s12886-015-0013-3. PMID: 25884841Free PMC Article
Sharma R, Marasini S, Nepal BP
Nepal J Ophthalmol 2013 Jan-Jun;5(1):50-6. doi: 10.3126/nepjoph.v5i1.7822. PMID: 23584647

Diagnosis

Gao G, Ouyang C, Dai J, Xue F, Wang X, Zou L, Chen M, Ma F, Yu M
BMC Ophthalmol 2015 Mar 3;15:16. doi: 10.1186/s12886-015-0013-3. PMID: 25884841Free PMC Article

Prognosis

Sharma R, Marasini S, Nepal BP
Nepal J Ophthalmol 2013 Jan-Jun;5(1):50-6. doi: 10.3126/nepjoph.v5i1.7822. PMID: 23584647
Bischof JM, Chiang AP, Scheetz TE, Stone EM, Casavant TL, Sheffield VC, Braun TA
Hum Mutat 2006 Jun;27(6):545-52. doi: 10.1002/humu.20335. PMID: 16671097

Clinical prediction guides

Gao G, Ouyang C, Dai J, Xue F, Wang X, Zou L, Chen M, Ma F, Yu M
BMC Ophthalmol 2015 Mar 3;15:16. doi: 10.1186/s12886-015-0013-3. PMID: 25884841Free PMC Article
Bischof JM, Chiang AP, Scheetz TE, Stone EM, Casavant TL, Sheffield VC, Braun TA
Hum Mutat 2006 Jun;27(6):545-52. doi: 10.1002/humu.20335. PMID: 16671097

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