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Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1(MRCS1)

MedGen UID:
1755099
•Concept ID:
C5436769
•
Disease or Syndrome
Synonyms: MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
 
Gene (location): ARL2 (11q13.1)
 
Monarch Initiative: MONDO:0033644
OMIM®: 619082

Definition

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1) is characterized by poor visual acuity in early childhood. Congenital cataract and microcornea are followed by rod-cone dystrophy, with later development of posterior staphyloma (Cai et al., 2019). Genetic Heterogeneity of Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma MRCS2 (see 193220) is caused by mutation in the BEST1 gene (607854) on chromosome 11q12; 1 such family has been reported. [from OMIM]

Clinical features

From HPO
Cataract
MedGen UID:
39462
•Concept ID:
C0086543
•
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
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Staphyloma posticum
MedGen UID:
509934
•Concept ID:
C0155360
•
Disease or Syndrome
A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.
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Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
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Microcornea
MedGen UID:
78610
•Concept ID:
C0266544
•
Congenital Abnormality
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
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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.
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Recent clinical studies

Diagnosis

Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.
Cai XB, Wu KC, Zhang X, Lv JN, Jin GH, Xiang L, Chen J, Huang XF, Pan D, Lu B, Lu F, Qu J, Jin ZB
Clin Genet 2019 Jul;96(1):61-71. Epub 2019 Apr 22 doi: 10.1111/cge.13541. PMID: 30945270

Therapy

A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.
Reddy MA, Francis PJ, Berry V, Bradshaw K, Patel RJ, Maher ER, Kumar R, Bhattacharya SS, Moore AT
Br J Ophthalmol 2003 Feb;87(2):197-202. doi: 10.1136/bjo.87.2.197. PMID: 12543751Free PMC Article

Clinical prediction guides

Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.
Cai XB, Wu KC, Zhang X, Lv JN, Jin GH, Xiang L, Chen J, Huang XF, Pan D, Lu B, Lu F, Qu J, Jin ZB
Clin Genet 2019 Jul;96(1):61-71. Epub 2019 Apr 22 doi: 10.1111/cge.13541. PMID: 30945270
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI
Prog Retin Eye Res 2009 May;28(3):187-205. Epub 2009 Apr 16 doi: 10.1016/j.preteyeres.2009.04.002. PMID: 19375515
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.
Reddy MA, Francis PJ, Berry V, Bradshaw K, Patel RJ, Maher ER, Kumar R, Bhattacharya SS, Moore AT
Br J Ophthalmol 2003 Feb;87(2):197-202. doi: 10.1136/bjo.87.2.197. PMID: 12543751Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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