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

MedGen UID:: 382247
•Concept ID:: C2674009
•: Disease or Syndrome

Synonym:

MRCS

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

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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: 12543751 Free PMC Article

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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

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: 12543751 Free PMC Article

See all (2)

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

Recent clinical studies

Diagnosis

Therapy

Clinical prediction guides

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