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J.J. Van Lith-Verhoeven, M.A. van Driel, I.C. Meij, L. van Laer, A.J. Pinckers (+), H. Kremer, A.F. Deutman, H.G. Brunner, F.P. Cremers, C.B. Hoyng; Clinical Classification of Autosomal Dominant Cystoid Macular Edema and Genetic Fine Mapping of the Underlying Defect . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1496.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose:To make a clinical classification for autosomal dominant cystoid macular edema (CYMD) and to refine the genetic localisation of the CYMD locus. Methods: Seventy-one members of a large Dutch CYMD family were clinically, angiographically and electrophysiologically investigated. The CYMD locus had previously been positioned in a 20-cM interval at 7p15-p21. Using an extended DNA marker set, haplotype analysis was performed, employing DNA of 135 family members. Results: We propose a clinical classification for CYMD into three stages, based on ophthalmoscopic and fluorescein angiographic findings. The genetic analysis revealed informative recombinations and enabled us to establish a shared haplotype refining the critical region to a 3.8 cM/2.0 Mb interval between the markers D7S493 and D7S673 at 7p15.3. This interval contains 11 genes with a known or inferred function and 19 predicted genes. We could not identify mutations in the open reading frame of four genes: interleukin-6 (IL6), nucleoporin-like protein 1 (NLP-1), glycoprotein neuromedin B (GPNMB) and LOC90693, which codes for alpha-1,3(6)-mannosylglycoprotein. Conclusions: CYMD is divided in three clinical stages and the genetic locus is refined to a 3.8 cM interval at 7p15.3. No mutation was found in the open reading frame of four positional candidate genes.
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