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Ocular manifestations of renal ciliopathies.

Autor: Salehi, Omar¹, Mack, Heather², Colville, Deb², Lewis, Debbie³, Savige, Judy¹ jasavige@unimelb.edu.au

Publikováno v: Pediatric Nephrology. May2024, Vol. 39 Issue 5, p1327-1346. 20p.

Long-term effect of gene therapy on Leber's congenital amaurosis.

Autor: Bainbridge JW; From the UCL (University College London) Institute of Ophthalmology (J.W.B.B., M.S.M., V.S., S.J.R., S.E.B., C.R., A.G., F.M.M., S.G.B., P.J.G., V.A.L., K.B., A.V., G.E.H., F.W.F., M.N., A.T.M., M.M., A.S., A.J.S., G.R., R.R.A.) and the Department of Civil, Environmental, and Geomatic Engineering (N.T.), UCL, and Moorfields Eye Hospital (J.W.B.B., M.S.M., V.S., S.J.R., A.G., K.B., G.H., A.M., M.M.), London, and the Department of Psychology, Durham University, Durham (M.N.) - all in the United Kingdom; the College of Veterinary Medicine, Michigan State University, East Lansing (F.M.M., S.M.P.-J.), and the Kellogg Eye Center, University of Michigan Medical School, Ann Arbor (K.L.F., D.A.T., R.R.A.); the Center for Human Genetics, KU Leuven (T.J.L.R.), and the Department of Ophthalmology, UZ Leuven, Campus Sint-Rafaël (I.C.) - both in Leuven, Belgium; Rotterdam Eye Hospital, Rotterdam, the Netherlands (S.Y., L.I.B.); and the Oregon Retinal Degeneration Center, Ophthalmic Genetics Service, Casey Eye Institute, Oregon Health and Science University, Portland (R.G.W.)., Mehat MS, Sundaram V, Robbie SJ, Barker SE, Ripamonti C, Georgiadis A, Mowat FM, Beattie SG, Gardner PJ, Feathers KL, Luong VA, Yzer S, Balaggan K, Viswanathan A, de Ravel TJ, Casteels I, Holder GE, Tyler N, Fitzke FW, Weleber RG, Nardini M, Moore AT, Thompson DA, Petersen-Jones SM, Michaelides M, van den Born LI, Stockman A, Smith AJ, Rubin G, Ali RR

Publikováno v: The New England journal of medicine [N Engl J Med] 2015 May 14; Vol. 372 (20), pp. 1887-97. Date of Electronic Publication: 2015 May 04.

Comparison of fundus autofluorescence with photopic and scotopic fine matrix mapping in patients with retinitis pigmentosa: 4- to 8-year follow-up.

Autor: Robson AG; Moorfields Eye Hospital, London, United Kingdom. anthony.robson@moorfields.nhs.uk, Lenassi E, Saihan Z, Luong VA, Fitzke FW, Holder GE, Webster AR

Publikováno v: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2012 Sep 14; Vol. 53 (10), pp. 6187-95. Date of Electronic Publication: 2012 Sep 14.

Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.

Autor: Robson AG; Department of Electrophysiology, Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, UK. anthony.robson@moorfields.nhs.uk, Michaelides M, Luong VA, Holder GE, Bird AC, Webster AR, Moore AT, Fitzke FW

Publikováno v: The British journal of ophthalmology [Br J Ophthalmol] 2008 Jan; Vol. 92 (1), pp. 95-102. Date of Electronic Publication: 2007 Oct 25.