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by Schönbach, Etienne M and Schönbach, Etienne and Strauss, Rupert W and Kong, Xiangrong and Muñoz, Beatriz and Ibrahim, Mohamed A and Sunness, Janet S and Birch, David and Birch, David G and Hahn, Gesa Astrid and Hahn, Gesa-Astrid and Nasser, Fadi and Zrenner, Eberhart and Sadda, Srinivas and Sadda, SriniVas R and West, Sheila K and West, Sheila and Scholl, Hendrik P.N and Wolfson, Yulia and Bittencourt, Millena and Shah, Syed Mahmood and Ahmed, Mohamed and Fujinami, Kaoru and Traboulsi, Elias and Ehlers, Justis and Marino, Meghan and Crowe, Susan and Briggs, Rachael and Borer, Angela and Pinter, Anne and Fecko, Tami and Burgnoni, Nikki and Applegate, Carol and Russell, Leslie and Michaelides, Michel and Esposti, Simona Degli and Moore, Anthony and Webster, Andrew and Connor, Sophie and Barnfield, Jade and Salchi, Zaid and Alfageme, Clara and McCudden, Victoria and Pefkianaki, Maria and Aboshiha, Jonathan and Liew, Gerald and Holder, Graham and Robson, Anthony and King, Alexa and Narvaez, Daniela Ivanova Cajas and Barnard, Katy and Grigg, Catherine and Dunbar, Hannah and Obadeyi, Yetunde and Girard-Claudon, Karine and Swann, Hilary and Rughani, Avani and Amoah, Charles and Carrington, Dominic and Bibi, Kanom and Co, Emerson Ting and Illiyas, Mohamed Nafaz and Begum, Hamida and Carter, Andrew and Georgiou, Anne and Lewism, Selma and Shaheen, Saddaf and Shinmar, Harpreet and Burton, Linda and Bernstein, Paul and Wegner, Kimberley and Sawyer, Briana Lauren and Carlstrom, Bonnie and Farnsworth, Kellian and Fry, Cyrie and Chandler, Melissa and Jenkins, Dennis and Jenkins, Glen and Creel, Donnel and Wang, Yi-Zhong and Rodriguez, Luis and Locke, Kirsten and Klein, Martin and Mejia, Paulina and Cideciyan, Artur V and Jacobson, Samuel G and Schwartz, Sharon B and Matsui, Rodrigo and Gruzensky, Michaela and Charng, Jason and Roman, Alejandro J and Wilhelm, Barbara and Peters, Tobias and Beier, Benjamin and Koenig, Tilman and Kramer, Susanne and Kramer, Brendan and Sahel, José-Alain and Mohand-Said, Saddek and Audo, Isabelle and ... and Progstar Study Grp and ProgStar Study Group
American Journal of Ophthalmology, ISSN 0002-9394, 09/2018, Volume 193, pp. 54 - 61
To investigate the natural history of Stargardt disease (STGD1) using fixation location and fixation stability. Multicenter, international, prospective cohort... 
OPHTHALMOLOGY | ATROPHY SECONDARY | VISUAL-ACUITY LOSS | NATURAL-HISTORY | NIDEK MP-1 | PROGRESSION | FEATURES | Medicine, Experimental | Medical research | Atrophy | Studies | Reading | Disease | Clinical trials | Software | Mutation | Ophthalmology | Patients | Age
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 08/2018, Volume 136, Issue 8, p. 859
Importance An increasing proportion of corneal transplant procedures are undertaken for replacement of a failed previous graft. The proportion of lamellar... 
Cornea | Transplants & implants | Keratoconus | Decision making | Surgery | Dystrophy | Ophthalmology | Eye surgery | Survival
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 03/2018, Volume 39, Issue 2, pp. 149 - 157
Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity, impaired colour vision, photophobia and nystagmus. The symptoms can... 
cone dysfunction syndrome | gene therapy | clinical trials | Achromatopsia | cone | ALPHA-SUBUNIT | OPTICAL COHERENCE TOMOGRAPHY | FUNDUS AUTOFLUORESCENCE | DAY-BLIND SHEEP | GATED CHANNEL | CNGB3-ASSOCIATED ACHROMATOPSIA | CONE PHOTORECEPTOR FUNCTION | INCOMPLETE ACHROMATOPSIA | MOUSE MODEL | GENETICS & HEREDITY | OPHTHALMOLOGY | LEBERS CONGENITAL AMAUROSIS
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 12/2018, Volume 59, Issue 15, pp. 5735 - 5744
PURPOSE. To longitudinally characterize structural retinal changes in achromatopsia (ACHM) over extended follow-up. METHODS. Fifty molecularly confirmed ACHM... 
Optical coherence tomography | Gene therapy | Achromatopsia | Retinal dystrophy | retinal dystrophy | optical coherence tomography | FUNDUS AUTOFLUORESCENCE | OPHTHALMOLOGY | gene therapy | achromatopsia | CONE | Genetics
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 08/2018, Volume 136, Issue 8, pp. 859 - 865
IMPORTANCE An increasing proportion of corneal transplant procedures are undertaken for replacement of a failed previous graft. The proportion of lamellar... 
OPHTHALMOLOGY | EYES | OUTCOMES | FAILURE | AUTOMATED ENDOTHELIAL KERATOPLASTY | Online First | Original Investigation | Research
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 01/2016, Volume 100, Issue 1, pp. 115 - 121
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 12/2015, Volume 56, Issue 13, pp. 7784 - 7793
PURPOSE. Biallelic mutations in AIPL1 cause Leber congenital amaurosis (LCA), a devastating retinal degeneration characterized by the loss or severe impairment... 
Minigene | Molecular chaperone | Splice mutations | molecular chaperone | NUB1 | MESSENGER-RNA | GENE | minigene | SEQUENCE | OPHTHALMOLOGY | INTEGRATIVE GENOMICS VIEWER | RETINA | MUTATIONS | splice mutations | PREDICTION
Journal Article
Journal Article
Journal of Vision, ISSN 1534-7362, 02/2016, Volume 16, Issue 4, p. 15
Journal Article
Journal Article
Journal Article
Journal Article
by Kong, Xiangrong and Fujinami, Kaoru and Strauss, Rupert W and Munoz, Beatriz and West, Sheila K and Cideciyan, Artur V and Michaelides, Michel and Ahmed, Mohamed and Ervin, Ann-Margret and Schönbach, Etienne and Cheetham, Janet K and Scholl, Hendrik P. N and Scholl, Hendrik P.N and Strauss, Rupert W and Wolfson, Yulia and Bittencourt, Millena and Shah, Syed Mahmood and Ahmed, Mohamed and Schönbach, Etienne and Fujinami, Kaoru and Traboulsi, Elias and Ehlers, Justis and Marino, Meghan and Crowe, Susan and Briggs, Rachael and Borer, Angela and Pinter, Anne and Fecko, Tami and Burgnoni, Nikki and Sunness, Janet S and Applegate, Carol and Russell, Leslie and Michaelides, Michel and Esposti, Simona Degli and Moore, Anthony and Webster, Andrew and Connor, Sophie and Barnfield, Jade and Salchi, Zaid and Alfageme, Clara and McCudden, Victoria and Pefkianaki, Maria and Aboshiha, Jonathan and Liew, Gerald and Holder, Graham and Robson, Anthony and King, Alexa and Narvaez, Daniela Ivanova Cajas and Barnard, Katy and Grigg, Catherine and Dunbar, Hannah and Obadeyi, Yetunde and Girard-Claudon, Karine and Swann, Hilary and Rughani, Avani and Amoah, Charles and Carrington, Dominic and Bibi, Kanom and Ting Co, Emerson and Illiyas, Mohamed Nafaz and Begum, Hamida and Carter, Andrew and Georgiou, Anne and Lewis, Selma and Shaheen, Saddaf and Shinmar, Harpreet and Burton, Linda and Bernstein, Paul and Wegner, Kimberley and Sawyer, Briana Lauren and Carlstrom, Bonnie and Farnsworth, Kellian and Fry, Cyrie and Chandler, Melissa and Jenkins, Glen and Creel, Donnel and Birch, David and Wang, Yi-Zhong and Rodriguez, Luis and Locke, Kirsten and Klein, Martin and Mejia, Paulina and Cideciyan, Artur V and Jacobson, Samuel G and Schwartz, Sharon B and Matsui, Rodrigo and Gruzensky, Michaela and Charng, Jason and Roman, Alejandro J and Zrenner, Eberhart and Nasser, Fadi and Hahn, Gesa Astrid and Wilhelm, Barbara and Peters, Tobias and Beier, Benjamin and Koenig, Tilman and Kramer, Susanne and Sahel, José-Alain and Mohand-Said, Saddek and Audo, Isabelle and ... and ProgStar Study Grp and ProgStar Study Group and for the ProgStar Study Group
JAMA Ophthalmology, ISSN 2168-6165, 08/2018, Volume 136, Issue 8, pp. 920 - 928
IMPORTANCE Limited data from prospective studies are available to understand the natural history of ABCA4-related Stargardt disease (STGD1). Such data are... 
EYE | RETROSPECTIVE PROGRESSION | GENETICS | FUNDUS AUTOFLUORESCENCE | MACULAR DYSTROPHY | IMPROVEMENT | SECONDARY | OPHTHALMOLOGY | NATURAL-HISTORY | RETINAL DEGENERATIONS | GEOGRAPHIC ATROPHY | Online First | Original Investigation | Research
Journal Article