Imaging in inherited retinal disorders.

作者: Jay Chhablani , Ilkay Kilic Muftuoglu , Mayss Al-Sheikh , Mohammed Abdul Rasheed , Sumit Randhir Singh

DOI: 10.1177/1120672121990578

关键词:

摘要: Inherited retinal diseases, which results from mutations in over 260 identified genes, affect more than 2 million people globally. The diseases mostly cause severe vision loss young working popu...

参考文章(137)
Michel Michaelides, Alison J. Hardcastle, David M. Hunt, Anthony T. Moore, Progressive cone and cone-rod dystrophies: Phenotypes and underlying molecular genetic basis Survey of Ophthalmology. ,vol. 51, pp. 232- 258 ,(2006) , 10.1016/J.SURVOPHTHAL.2006.02.007
Michael F. Marmor, Barton Byers, Pattern Dystrophy of the Pigment Epithelium American Journal of Ophthalmology. ,vol. 84, pp. 32- 44 ,(1977) , 10.1016/0002-9394(77)90320-8
Morton F. Goldberg, Fenq-Lih Lee, Mark O.M. Tso, Gerald A. Fishman, Histopathologic study of autosomal dominant vitreoretinochoroidopathy. Peripheral annular pigmentary dystrophy of the retina. Ophthalmology. ,vol. 96, pp. 1736- 1746 ,(1989) , 10.1016/S0161-6420(89)32663-7
Sobha Sivaprasad, Andrew R Webster, Catherine A Egan, Alan C Bird, Adnan Tufail, None, Clinical course and treatment outcomes of Sorsby fundus dystrophy American Journal of Ophthalmology. ,vol. 146, pp. 228- 234 ,(2008) , 10.1016/J.AJO.2008.03.024
Panagiotis I. Sergouniotis, Alice E. Davidson, Eva Lenassi, Sophie R. Devery, Anthony T. Moore, Andrew R. Webster, Retinal structure, function, and molecular pathologic features in gyrate atrophy. Ophthalmology. ,vol. 119, pp. 596- 605 ,(2012) , 10.1016/J.OPHTHA.2011.09.017
Birgit Lorenz, Bettina Wabbels, Erika Wegscheider, Christian P Hamel, Wolfgang Drexler, Markus N Preising, Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65 ☆ Ophthalmology. ,vol. 111, pp. 1585- 1594 ,(2004) , 10.1016/J.OPHTHA.2004.01.033
Royce W.S. Chen, Jonathan P. Greenberg, Margot A. Lazow, Rithu Ramachandran, Luiz H. Lima, John C. Hwang, Carl Schubert, Alexandra Braunstein, Rando Allikmets, Stephen H. Tsang, Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa. American Journal of Ophthalmology. ,vol. 153, pp. 143- 154 ,(2012) , 10.1016/J.AJO.2011.06.018
Carel B Hoyng, Peter Heutink, Leon Testers, Alfred Pinckers, August F Deutman, Ben A Oostra, None, Autosomal Dominant Central Areolar Choroidal Dystrophy Caused by a Mutation in Codon 142 in the Peripherin/RDS Gene American Journal of Ophthalmology. ,vol. 121, pp. 623- 629 ,(1996) , 10.1016/S0002-9394(14)70627-0
Stephanie Halford, Gerald Liew, Donna S. Mackay, Panagiotis I. Sergouniotis, Richard Holt, Suzanne Broadgate, Emanuela V. Volpi, Louise Ocaka, Anthony G. Robson, Graham E. Holder, Anthony T. Moore, Michel Michaelides, Andrew R. Webster, Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy Ophthalmology. ,vol. 121, pp. 1174- 1184 ,(2014) , 10.1016/J.OPHTHA.2013.11.042