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Mahshad Darvish-Zargar, Sulaiman Al-Humaid, Amer Omer, Leah Wood, Anneke den Hollander, Frans P. Cremers, Robert K. Koenekoop; In Vivo Retinal Architecture And Retinal Function Correlations In Specific LCA Genotypes. Invest. Ophthalmol. Vis. Sci. 2011;52(14):55.
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Successful drug therapy or gene replacement in Leber congenital amaurosis (LCA) and other retinal dystrophies requires a viable photoreceptor layer. Our purpose is to study retinal structure-function correlations by in vivo retinal microscopy and autofluorescence (FAF) in genetically characterized subtypes of LCA.
APEX mutation chips for LCA (Asper Ophthalmics), SNP genotyping (Illumina) and Sanger sequencing were used to genotype LCA patients. Phenotyping of patients with known LCA mutations was done by projected Snellen acuities, ERGs, retinal photography, in vivo retinal microscopy (Spectralis OCT), fundus autofluorescence (FAF) (Heidelberg Engineering), and Goldmann kinetic perimetry.
Thus far, we have identified five types of patients with known LCA mutations with severe visual impairment but with relatively intact retinal architecture, including photoreceptor outer segments (OS), intact IS/OS junctions and retinal layering. FAF patterns varied, but revealed intact lipofuscin metabolism in several locations. We identified LCA patients with GUCY2D, SPATA7, RPE65 and LRAT mutations who maintained photoreceptor OS. We are currently evaluating LCA patients with AIPL1, NPHP5, RDH12, CEP290 and LCA5 mutations.
We are correlating the in vivo retinal architecture to retinal function (measured by FAF) in several genetic subtypes of LCA and relate this to their visual function. Despite very significant visual loss, we have shown both intact photoreceptor structures (OS, IS/OS junction) and intact photoreceptor metabolism. This information will help to not only improve our understanding of the pathology and progression of various LCA genotypes, but also devise and decide on appropriate treatments based on their genotype and phenotype. Several genetic subtypes of LCA have intact photoreceptors during a crucial time window, which still needs to be further defined.
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