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Retinitis pigmentosa 35(RP35)

MedGen UID:
339931
Concept ID:
C1853214
Disease or Syndrome
Synonyms: RP 35; RP35
 
Gene (location): SEMA4A (1q22)
 
Monarch Initiative: MONDO:0012463
OMIM®: 610282

Definition

Retinitis pigmentosa-35 (RP35) is characterized by night blindness with progressive loss of vision. Pigment deposits and narrowing of vasculature are seen in the retina (Abid et al., 2006). Mutation in SEMA4A can also cause a form of cone-rod dystrophy (CORD10; 610283). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Clinical features

From HPO
Nyctalopia
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.
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
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

Motta FL, Martin RP, Filippelli-Silva R, Salles MV, Sallum JMF
Sci Rep 2018 Oct 29;8(1):15939. doi: 10.1038/s41598-018-34380-0. PMID: 30374144Free PMC Article
Zhang Q, Xu M, Verriotto JD, Li Y, Wang H, Gan L, Lam BL, Chen R
Sci Rep 2016 Sep 6;6:32792. doi: 10.1038/srep32792. PMID: 27596865Free PMC Article

Diagnosis

Motta FL, Martin RP, Filippelli-Silva R, Salles MV, Sallum JMF
Sci Rep 2018 Oct 29;8(1):15939. doi: 10.1038/s41598-018-34380-0. PMID: 30374144Free PMC Article
Zhang Q, Xu M, Verriotto JD, Li Y, Wang H, Gan L, Lam BL, Chen R
Sci Rep 2016 Sep 6;6:32792. doi: 10.1038/srep32792. PMID: 27596865Free PMC Article
Shankar SP, Birch DG, Ruiz RS, Hughbanks-Wheaton DK, Sullivan LS, Bowne SJ, Stone EM, Daiger SP
JAMA Ophthalmol 2015 May;133(5):511-7. doi: 10.1001/jamaophthalmol.2014.6115. PMID: 25675413Free PMC Article

Prognosis

Shankar SP, Birch DG, Ruiz RS, Hughbanks-Wheaton DK, Sullivan LS, Bowne SJ, Stone EM, Daiger SP
JAMA Ophthalmol 2015 May;133(5):511-7. doi: 10.1001/jamaophthalmol.2014.6115. PMID: 25675413Free PMC Article

Clinical prediction guides

Shankar SP, Birch DG, Ruiz RS, Hughbanks-Wheaton DK, Sullivan LS, Bowne SJ, Stone EM, Daiger SP
JAMA Ophthalmol 2015 May;133(5):511-7. doi: 10.1001/jamaophthalmol.2014.6115. PMID: 25675413Free PMC Article

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