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JAMA Ophthalmology, ISSN 2168-6165, 10/2018, Volume 136, Issue 10, p. 1158
Importance The apparent genetic penetrance of macular telangiectasia type 2 (MacTel) is important for gene discovery studies and for clinical risk assessment... 
Genotype & phenotype | Risk assessment | Genetic analysis | Eye diseases | Genetics | Ophthalmology | Risk factors | Siblings
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 10/2018, Volume 136, Issue 10, pp. 1158 - 1163
IMPORTANCE The apparent genetic penetrance of macular telangiectasia type 2 (MacTel) is important for gene discovery studies and for clinical risk assessment... 
JUXTAFOVEOLAR RETINAL TELANGIECTASIS | OPHTHALMOLOGY | Online First | Original Investigation | Research
Journal Article
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
Retina, ISSN 0275-004X, 01/2017, Volume 37, Issue 12, pp. 2238 - 2247
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
Journal Article