BEST1 is a Rare One
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Mutation Mucrocornia StaphylomaDimensions Badge
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MRCS syndrome caused by a BEST1 mutation, which was described in one family, is characterized by microcornea, rod–cone dystrophy, early-onset cataract, and posterior staphyloma. The present case aims to gather data on this rare genetic disorder and help pave the way for therapy in future. MRCS syndrome caused by a BEST1 mutation, which was described in one family, is characterized by microcornea, rod–cone dystrophy, earlyonset pulverulent cataract, and posterior staphylomaAt present, no definitive therapies or treatments exist for patients with bestrophinopathies. Investigation of MRCS syndrome in patients will promote better rehabilitation and monitoring of patients. An early treatment could help to avoid the effect of long term desensitization of optic nerve and amblyopiaAbstract
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