Michaelides, Michel; (2004) Cone and central receptor dystrophies - A clinical and molecular genetic investigation. Doctoral thesis (M.D), UCL (University College London).

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Abstract

The cone, cone-rod and central receptor dystrophies form part of a heterogeneous group of retinal dystrophies that are a major cause of childhood blindness. Detailed phenotyping has been performed in several patient groups, including the stationary cone dysfunction syndromes (achromatopsia, blue cone monochromatism, oligocone trichromacy and an X-linked cone dysfunction syndrome associated with myopia and dichromacy); progressive cone dystrophies (cone dystrophy with supernormal rod responses and a cone dystrophy associated with mutation in CNGB3); cone-rod dystrophies (CORDs) (an autosomal dominant cone-rod dystrophy (CORD7), a syndrome of CORD with amelogenesis imperfecta and enhanced S-cone syndrome); central receptor dystrophies (two large autosomal dominant macular dystrophy pedigrees). Detailed phenotyping has included clinical examination, colour fundus photography, autofluorescence imaging, electrophysiological assessment, visual field testing, colour vision testing, and dark-adapted perimetry. This study identifies further mutations in known genes causing achromatopsia and describes the first report of progressive cone dystrophy caused by mutations in CNGB3. Mutation screening of the candidate gene, PROM1, in one of the pedigrees with autosomal dominant macular dystrophy has revealed a novel mutation. Mutation screening of NR2E3, the gene associated with enhanced S-cone syndrome has been performed and several novel mutations identified. The CORD syndrome associated with abnormalities in teeth enamel formation, amelogenesis imperfecta, has been recently mapped to a region encompassing the gene CNGA3. Consequently extraction of mRNA from mouse teeth has been undertaken, from which cDNA has been synthesised and used to assess whether CNGA3 or CNGB3 is expressed in developing teeth. Neither appeared to be expressed in the mouse tooth at the studied developmental stages.

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