Inherited Cataracts: Molecular Genetics, Clinical Features, Disease Mechanisms and Novel Therapeutic Approaches
Review Br J Ophthalmol: first published as 10.1136/bjophthalmol-2019-315282 on 25 March 2020. Downloaded from Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches Vanita Berry ,1 Michalis Georgiou ,1,2 Kaoru Fujinami,1,3 Roy Quinlan,1,4 Anthony Moore,2,5 Michel Michaelides1,2 1Department of Genetics, UCL ABSTRact lamellar, coralliform, blue dot (cerulean), cortical, Institute of Ophthalmology, Cataract is the most common cause of blindness in the pulverulent and polymorphic.9–11 The majority of University College London, the inherited cataracts are autosomal dominant London, UK world; during infancy and early childhood, it frequently 2Moorfields Eye Hospital NHS results in visual impairment. Congenital cataracts are with complete penetrance, but variable expres- Foundation Trust, London, UK phenotypically and genotypically heterogeneous and sion, autosomal recessive and X- linked inheritance 3National Institute of Sensory can occur in isolation or in association with other patterns are less frequent. Organs, National Hospital systemic disorders. Significant progress has been made Over the last 10 years, enormous progress has Organization, Tokyo Medical Centre, Tokyo, Japan in identifying the molecular genetic basis of cataract; been made in elucidating the molecular basis of 4Department of Biosciences, 115 genes to date have been found to be associated congenital cataract, with causative mutations iden- School of Biological and Medical with syndromic and non-syndromic cataract and 38 tified in genes encoding many different proteins Sciences, University of Durham, disease-causing genes have been identified to date to including intracellular lens proteins (crystallins), Durham, UK 5 membrane gap junction proteins (connexins), Ophthalmology Department, be associated with isolated cataract.
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