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Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells

13 Dec 2017

Abstract excerpt

Congenital cataract (CC) is a clinical and genetically heterogeneous eye disease that primarily causes lens disorder and even amblyopic blindness in children. As the mechanism underlying CC is genetically inherited, identification of CC-associated gene mutations and their role in protein distribution are topics of both pharmacological and biological research. Through physical and ophthalmic examinations, two...

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PMID: 29259299
DOI: 10.1038/s41598-017-18222-z

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