RP87
MCID: RTN229
MIFTS: 19

Retinitis Pigmentosa 87 with Choroidal Involvement (RP87)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Retinitis Pigmentosa 87 with Choroidal Involvement

MalaCards integrated aliases for Retinitis Pigmentosa 87 with Choroidal Involvement:

Name: Retinitis Pigmentosa 87 with Choroidal Involvement 57 12 73 6
Rp87 57 12 73
Retinitis Pigmentosa, Type 87, Choroidal Involvement 39
Retinitis Pigmentosa 87 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance
variable severity
variable presentation
onset of symptoms from second to fifth decade of life

Inheritance:
autosomal dominant


HPO:

31
retinitis pigmentosa 87 with choroidal involvement:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112144
OMIM® 57 618697
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
SNOMED-CT via HPO 68 263681008 420990001 95686007

Summaries for Retinitis Pigmentosa 87 with Choroidal Involvement

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 87 with choroidal involvement: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP87 is an autosomal dominant form characterized by a slowly progressive visual disturbance accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected.

MalaCards based summary : Retinitis Pigmentosa 87 with Choroidal Involvement, is also known as rp87. An important gene associated with Retinitis Pigmentosa 87 with Choroidal Involvement is RPE65 (Retinoid Isomerohydrolase RPE65). Affiliated tissues include bone and retina, and related phenotypes are peripheral visual field loss and chorioretinal atrophy

Disease Ontology : 12 A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has material basis in heterozygous mutation in RPE65 on chromosome 1p31.3.

OMIM® : 57 Retinitis pigmentosa-87 with choroidal involvement (RP87) is characterized by a slowly progressive visual disturbance, including night blindness and reduced central and peripheral vision, accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected (Hull et al., 2016; Li et al., 2019). For a discussion of genetic heterogeneity of RP, see 268000. (618697) (Updated 05-Mar-2021)

Related Diseases for Retinitis Pigmentosa 87 with Choroidal Involvement

Symptoms & Phenotypes for Retinitis Pigmentosa 87 with Choroidal Involvement

Human phenotypes related to Retinitis Pigmentosa 87 with Choroidal Involvement:

31
# Description HPO Frequency HPO Source Accession
1 peripheral visual field loss 31 HP:0007994
2 chorioretinal atrophy 31 HP:0000533
3 bone spicule pigmentation of the retina 31 HP:0007737
4 nummular pigmentation of the fundus 31 HP:0030505

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
night blindness
decreased peripheral vision
decreased central vision (in some patients)
progression to hand-movement-only vision (in some patients)
posterior subcapsular lens opacities (in some patients in later life)
more

Clinical features from OMIM®:

618697 (Updated 05-Mar-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 87 with Choroidal Involvement

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 87 with Choroidal Involvement

Genetic Tests for Retinitis Pigmentosa 87 with Choroidal Involvement

Anatomical Context for Retinitis Pigmentosa 87 with Choroidal Involvement

MalaCards organs/tissues related to Retinitis Pigmentosa 87 with Choroidal Involvement:

40
Bone, Retina

Publications for Retinitis Pigmentosa 87 with Choroidal Involvement

Articles related to Retinitis Pigmentosa 87 with Choroidal Involvement:

# Title Authors PMID Year
1
Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation. 57 6
30628748 2019
2
Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa. 57 6
29947567 2018
3
The clinical features of retinal disease due to a dominant mutation in RPE65. 57 6
27307694 2016
4
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. 57 6
21654732 2011
5
Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65. 6
29659842 2018
6
A Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice. 6
28041994 2017

Variations for Retinitis Pigmentosa 87 with Choroidal Involvement

ClinVar genetic disease variations for Retinitis Pigmentosa 87 with Choroidal Involvement:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPE65 NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) SNV Pathogenic 750796 rs1571158279 1:68896768-68896768 1:68431085-68431085

Expression for Retinitis Pigmentosa 87 with Choroidal Involvement

Search GEO for disease gene expression data for Retinitis Pigmentosa 87 with Choroidal Involvement.

Pathways for Retinitis Pigmentosa 87 with Choroidal Involvement

GO Terms for Retinitis Pigmentosa 87 with Choroidal Involvement

Sources for Retinitis Pigmentosa 87 with Choroidal Involvement

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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