MRCS syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MRCS, INCLUDED
VITREORETINOCHOROIDOPATHY WITH MICROCORNEA, GLAUCOMA, AND CATARACT
ADVIRC
VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT
VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA, INCLUDED
VRCP
Microcornea - rod-cone dystrophy - cataract - posterior staphyloma
Number of Symptoms 31
OrphanetNr: 263347
OMIM Id: 193220
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Retinal dystrophy
 -Rare eye disease
 -Rare genetic disease
Syndromic cataract
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0011478) True anophthalmia 17 / 7739
2
(HPO:0000528) Anophthalmia 42 / 7739
3
(HPO:0000568) Microphthalmia Occasional [HPO:probinson] 183 / 7739
4
(HPO:0000501) Glaucoma 180 / 7739
5
(HPO:0000551) Abnormality of color vision 20 / 7739
6
(HPO:0000662) Nyctalopia 92 / 7739
7
(HPO:0000639) Nystagmus 555 / 7739
8
(HPO:0000580) Pigmentary retinopathy 49 / 7739
9
(HPO:0007641) Dyschromatopsia Occasional [HPO:probinson] 19 / 7739
10
(HPO:0010693) Pulverulent cataract 6 / 7739
11
(HPO:0007902) Vitreous hemorrhage 9 / 7739
12
(HPO:0000541) Retinal detachment 87 / 7739
13
(HPO:0008043) Retinal arteriolar constriction 5 / 7739
14
(HPO:0000482) Microcornea 102 / 7739
15
(HPO:0007985) Retinal arteriolar occlusion 2 / 7739
16
(HPO:0000486) Strabismus 576 / 7739
17
(HPO:0007661) Abnormality of chorioretinal pigmentation 2 / 7739
18
(OMIM) Punctate white opacities in the retina 2 / 7739
19
(OMIM) Pigmentary retinopathy throughout the posterior pole and into the staphyloma in older individuals 2 / 7739
20
(OMIM) Peripheral retinal pigment epithelium atrophy 2 / 7739
21
(OMIM) Fundus dystrophy 3 / 7739
22
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
(OMIM) Breakdown of the blood retinal barrier with retinal neovascularization 2 / 7739
24
(OMIM) Retinal pigmentation anterior to boundary of the staphyloma in younger patients 2 / 7739
25
(OMIM) Posterior staphyloma in most eyes 2 / 7739
26
(OMIM) Glaucoma, chronic angle-closure, in older patients 2 / 7739
27
(OMIM) Vitreoretinochoroidopathy 2 / 7739
28
(OMIM) Night blindness onset during teen years 2 / 7739
29
(OMIM) Vitreous fibrillar condensation 2 / 7739
30
(OMIM) Reduced axial length (nanophthalmos) if no staphyloma 2 / 7739
31
(OMIM) Reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Under the designation autosomal dominant vitreoretinochoroidopathy (ADVIRC), Kaufman et al. (1982) described a seemingly 'new' fundus dystrophy characterized by chorioretinal hypopigmentation and hyperpigmentation, usually lying between the vortex veins and the ora serrata for 360 degrees. In this ...
Molecular genetics OMIM Yardley et al. (2004) noted that both the Belgian family reported by Lafaut et al. (2001) and the English family reported by Reddy et al. (2003) had pathologically low electrooculograms, a clinical finding also seen in vitelliform macular ...