Journal of Clinical and Experimental Ophthalmology
Open Access

Sarah J Garnai

Publications

• Short Communication
  A Triple Mutation of BetaB2-Crystallin is Necessary to Develop Cataract and Glaucoma
  Author(s): Anne Rübsam, Jennifer E Dulle, Sarah J Garnai, Hermant S Pawar, Patrice E Fort Anne Rübsam, Jennifer E Dulle, Sarah J Garnai, Hermant S Pawar, Patrice E Fort
  
  Crystallins are the predominant structural proteins in the lens that are evolutionarily related to stress proteins. There are two main crystallin gene families: α-crystallins and β/γ-crystallins. α- and β-crystallins were first considered to be lens-specific, but were recently recognized also as neuronal and retinal proteins. While in the ocular lens they are responsible for the maintenance of the transparency, their function in neurons is obviously different - regulating various protective mechanisms in degenerative conditions of the central nervous system. We recently reported the correlation between a gene conversion leading to a triple mutation in the betaB2-crystallin protein and a phenotype of familial congenital cataract with a high familial incidence also of primary open angle glaucoma. Congenital cataract is the leading cause of childhood blindness.. View More»
  DOI: 10.4172/2155-9570.1000690

  Abstract PDF

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