U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Retinitis pigmentosa 10(RP10)

MedGen UID:
357247
Concept ID:
C1867299
Disease or Syndrome
Synonym: RP10
 
Gene (location): IMPDH1 (7q32.1)
 
Monarch Initiative: MONDO:0008379
OMIM®: 180105

Definition

Retinitis pigmentosa-10 (RP10) is characterized in most patients by early onset and rapid progression of ocular symptoms, beginning with night blindness in childhood, followed by visual field constriction. Some patients experience an eventual reduction in visual acuity. Funduscopy shows typical changes of RP, including optic disc pallor, retinal vascular attenuation, and bone-spicule pattern of pigmentary deposits in the retinal midperiphery. Electroretinography demonstrates equal reduction in rod and cone responses (Jordan et al., 1993; Bowne et al., 2002; Bowne et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [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.
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 disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Posterior subcapsular cataract
MedGen UID:
163646
Concept ID:
C0858617
Acquired Abnormality
A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.
Geographic atrophy
MedGen UID:
323488
Concept ID:
C1536085
Disease or Syndrome
Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.
Bull eye maculopathy
MedGen UID:
321812
Concept ID:
C1828210
Finding
Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
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  

Recent clinical studies

Etiology

Herse P, Gothwal VK
Acta Ophthalmol Scand 1998 Oct;76(5):606-9. doi: 10.1034/j.1600-0420.1998.760519.x. PMID: 9826049
Herse P, Gothwal VK
Indian J Ophthalmol 1997 Sep;45(3):189-93. PMID: 9475023

Diagnosis

Herse P, Gothwal VK
Acta Ophthalmol Scand 1998 Oct;76(5):606-9. doi: 10.1034/j.1600-0420.1998.760519.x. PMID: 9826049
Herse P, Gothwal VK
Indian J Ophthalmol 1997 Sep;45(3):189-93. PMID: 9475023

Prognosis

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
Herse P, Gothwal VK
Acta Ophthalmol Scand 1998 Oct;76(5):606-9. doi: 10.1034/j.1600-0420.1998.760519.x. PMID: 9826049

Clinical prediction guides

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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...