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Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2(MRCS2)

MedGen UID:
1763512
•Concept ID:
C5435648
•
Disease or Syndrome
Synonyms: MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 2; MRCS2
 
Monarch Initiative: MONDO:0800296
OMIM®: 193220; 607854

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

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