Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.

Autor:	Langlo CS; Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States., Patterson EJ; Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States., Higgins BP; Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States., Summerfelt P; Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States., Razeen MM; Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States 3Alexandria Faculty of Medicine, University of Alexandria, Alexandria, Egypt., Erker LR; Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States., Parker M; Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States., Collison FT; Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse, Chicago, Illinois, United States., Fishman GA; Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse, Chicago, Illinois, United States., Kay CN; Vitreoretinal Associates, Gainesville, Florida, United States., Zhang J; Vitreoretinal Associates, Gainesville, Florida, United States., Weleber RG; Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States., Yang P; Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States., Wilson DJ; Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States., Pennesi ME; Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States., Lam BL; Bascom Palmer Eye Institute, University of Miami, Miami, Florida, United States., Chiang J; Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States., Chulay JD; Applied Genetics Technologies Corporation (AGTC), Alachua, Florida, United States., Dubra A; Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States 2Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States 9Biophysics, Medical College of Wisconsin, Milwaukee, Wisconsin, Un., Hauswirth WW; Ophthalmology, University of Florida, Gainesville, Florida, United States., Carroll J; Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States 2Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States 9Biophysics, Medical College of Wisconsin, Milwaukee, Wisconsin, Un.
Jazyk:	angličtina
Zdroj:	Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2016 Aug 01; Vol. 57 (10), pp. 3984-95.
DOI:	10.1167/iovs.16-19313
Abstrakt:	Purpose: Congenital achromatopsia (ACHM) is an autosomal recessive disorder in which cone function is absent or severely reduced. Gene therapy in animal models of ACHM have shown restoration of cone function, though translation of these results to humans relies, in part, on the presence of viable cone photoreceptors at the time of treatment. Here, we characterized residual cone structure in subjects with CNGB3-associated ACHM. Methods: High-resolution imaging (optical coherence tomography [OCT] and adaptive optics scanning light ophthalmoscopy [AOSLO]) was performed in 51 subjects with CNGB3-associated ACHM. Peak cone density and inter-cone spacing at the fovea was measured using split-detection AOSLO. Foveal outer nuclear layer thickness was measured in OCT images, and the integrity of the photoreceptor layer was assessed using a previously published OCT grading scheme. Results: Analyzable images of the foveal cones were obtained in 26 of 51 subjects, with nystagmus representing the major obstacle to obtaining high-quality images. Peak foveal cone density ranged from 7,273 to 53,554 cones/mm2, significantly lower than normal (range, 84,733-234,391 cones/mm2), with the remnant cones being either contiguously or sparsely arranged. Peak cone density was correlated with OCT integrity grade; however, there was overlap of the density ranges between OCT grades. Conclusions: The degree of residual foveal cone structure varies greatly among subjects with CNGB3-associated ACHM. Such measurements may be useful in estimating the therapeutic potential of a given retina, providing affected individuals and physicians with valuable information to more accurately assess the risk-benefit ratio as they consider enrolling in experimental gene therapy trials. (www.clinicaltrials.gov, NCT01846052.).
Databáze:	MEDLINE
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