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Retinitis pigmentosa 13(RP13)

MedGen UID:
325486
Concept ID:
C1838702
Disease or Syndrome
Synonyms: PRPF 8-Related Retinitis Pigmentosa; RP 13; RP13
 
Gene (location): PRPF8 (17p13.3)
 
Monarch Initiative: MONDO:0010806
OMIM®: 600059

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene. [from MONDO]

Clinical features

From HPO
Cystoid macular edema
MedGen UID:
7435
Concept ID:
C0024440
Disease or Syndrome
Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015).
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Optic disc drusen
MedGen UID:
14495
Concept ID:
C0029128
Disease or Syndrome
Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
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.
Subcapsular cataract
MedGen UID:
65903
Concept ID:
C0235259
Finding
A cataract that affects the region of the lens directly beneath the capsule of the lens.
Asteroid hyalosis
MedGen UID:
636821
Concept ID:
C0521770
Disease or Syndrome
The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.
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
Perifoveal ring of hyperautofluorescence
MedGen UID:
892724
Concept ID:
C4073099
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Matoba R, Morimoto N, Kawasaki R, Fujiwara M, Kanenaga K, Yamashita H, Sakamoto T, Morizane Y
Jpn J Ophthalmol 2023 May;67(3):346-352. Epub 2023 Apr 17 doi: 10.1007/s10384-023-00986-9. PMID: 37067634
Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME
Mol Vis 2020;26:423-433. Epub 2020 Jun 3 PMID: 32565670Free PMC Article

Diagnosis

Matoba R, Morimoto N, Kawasaki R, Fujiwara M, Kanenaga K, Yamashita H, Sakamoto T, Morizane Y
Jpn J Ophthalmol 2023 May;67(3):346-352. Epub 2023 Apr 17 doi: 10.1007/s10384-023-00986-9. PMID: 37067634
Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME
Mol Vis 2020;26:423-433. Epub 2020 Jun 3 PMID: 32565670Free PMC Article

Clinical prediction guides

Matoba R, Morimoto N, Kawasaki R, Fujiwara M, Kanenaga K, Yamashita H, Sakamoto T, Morizane Y
Jpn J Ophthalmol 2023 May;67(3):346-352. Epub 2023 Apr 17 doi: 10.1007/s10384-023-00986-9. PMID: 37067634

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