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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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

Etiology

The incidence and risk factors for the development of vitreomacular interface abnormality in diabetic macular edema treated with intravitreal injection of anti-VEGF.
Chang CK, Cheng CK, Peng CH
Eye (Lond) 2017 May;31(5):762-770. Epub 2017 Jan 20 doi: 10.1038/eye.2016.317. PMID: 28106889Free PMC Article
Plasmin Enzyme-Assisted Vitrectomy in Pediatric Patients with Vitreoretinal Diseases.
Lee YS, Wang NK, Chen YP, Chen KJ, Hwang YS, Lai CC, Wu WC
Ophthalmic Res 2016;56(4):193-201. Epub 2016 Aug 6 doi: 10.1159/000447406. PMID: 27497808
Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1.
Kellner S, Stöhr H, Fiebig B, Weinitz S, Farmand G, Kellner U, Weber BH
Ophthalmic Genet 2016 Jun;37(2):201-8. Epub 2016 Jan 15 doi: 10.3109/13816810.2015.1033556. PMID: 26771239
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.
Vincent A, McAlister C, Vandenhoven C, Héon E
Eye (Lond) 2011 Jan;25(1):113-8. Epub 2010 Nov 12 doi: 10.1038/eye.2010.165. PMID: 21072067Free PMC Article
Molecular evolution and functional divergence of the bestrophin protein family.
Milenkovic VM, Langmann T, Schreiber R, Kunzelmann K, Weber BH
BMC Evol Biol 2008 Feb 28;8:72. doi: 10.1186/1471-2148-8-72. PMID: 18307799Free PMC Article

Diagnosis

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).
Habibi I, Falfoul Y, Todorova MG, Wyrsch S, Vaclavik V, Helfenstein M, Turki A, Matri KE, Matri LE, Schorderet DF
Genes (Basel) 2019 Nov 21;10(12) doi: 10.3390/genes10120953. PMID: 31766397Free PMC Article
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 incidence and risk factors for the development of vitreomacular interface abnormality in diabetic macular edema treated with intravitreal injection of anti-VEGF.
Chang CK, Cheng CK, Peng CH
Eye (Lond) 2017 May;31(5):762-770. Epub 2017 Jan 20 doi: 10.1038/eye.2016.317. PMID: 28106889Free PMC Article
Plasmin Enzyme-Assisted Vitrectomy in Pediatric Patients with Vitreoretinal Diseases.
Lee YS, Wang NK, Chen YP, Chen KJ, Hwang YS, Lai CC, Wu WC
Ophthalmic Res 2016;56(4):193-201. Epub 2016 Aug 6 doi: 10.1159/000447406. PMID: 27497808
Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1.
Kellner S, Stöhr H, Fiebig B, Weinitz S, Farmand G, Kellner U, Weber BH
Ophthalmic Genet 2016 Jun;37(2):201-8. Epub 2016 Jan 15 doi: 10.3109/13816810.2015.1033556. PMID: 26771239

Therapy

The incidence and risk factors for the development of vitreomacular interface abnormality in diabetic macular edema treated with intravitreal injection of anti-VEGF.
Chang CK, Cheng CK, Peng CH
Eye (Lond) 2017 May;31(5):762-770. Epub 2017 Jan 20 doi: 10.1038/eye.2016.317. PMID: 28106889Free PMC Article
Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1.
Kellner S, Stöhr H, Fiebig B, Weinitz S, Farmand G, Kellner U, Weber BH
Ophthalmic Genet 2016 Jun;37(2):201-8. Epub 2016 Jan 15 doi: 10.3109/13816810.2015.1033556. PMID: 26771239
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

Prognosis

The incidence and risk factors for the development of vitreomacular interface abnormality in diabetic macular edema treated with intravitreal injection of anti-VEGF.
Chang CK, Cheng CK, Peng CH
Eye (Lond) 2017 May;31(5):762-770. Epub 2017 Jan 20 doi: 10.1038/eye.2016.317. PMID: 28106889Free PMC Article
Plasmin Enzyme-Assisted Vitrectomy in Pediatric Patients with Vitreoretinal Diseases.
Lee YS, Wang NK, Chen YP, Chen KJ, Hwang YS, Lai CC, Wu WC
Ophthalmic Res 2016;56(4):193-201. Epub 2016 Aug 6 doi: 10.1159/000447406. PMID: 27497808
Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1.
Kellner S, Stöhr H, Fiebig B, Weinitz S, Farmand G, Kellner U, Weber BH
Ophthalmic Genet 2016 Jun;37(2):201-8. Epub 2016 Jan 15 doi: 10.3109/13816810.2015.1033556. PMID: 26771239
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.
Vincent A, McAlister C, Vandenhoven C, Héon E
Eye (Lond) 2011 Jan;25(1):113-8. Epub 2010 Nov 12 doi: 10.1038/eye.2010.165. PMID: 21072067Free PMC Article
Molecular evolution and functional divergence of the bestrophin protein family.
Milenkovic VM, Langmann T, Schreiber R, Kunzelmann K, Weber BH
BMC Evol Biol 2008 Feb 28;8:72. doi: 10.1186/1471-2148-8-72. PMID: 18307799Free 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
Plasmin Enzyme-Assisted Vitrectomy in Pediatric Patients with Vitreoretinal Diseases.
Lee YS, Wang NK, Chen YP, Chen KJ, Hwang YS, Lai CC, Wu WC
Ophthalmic Res 2016;56(4):193-201. Epub 2016 Aug 6 doi: 10.1159/000447406. PMID: 27497808
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
Molecular evolution and functional divergence of the bestrophin protein family.
Milenkovic VM, Langmann T, Schreiber R, Kunzelmann K, Weber BH
BMC Evol Biol 2008 Feb 28;8:72. doi: 10.1186/1471-2148-8-72. PMID: 18307799Free PMC Article
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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