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Human Genetics, ISSN 0340-6717, 9/2019, Volume 138, Issue 8, pp. 795 - 798
Journal Article
Current Opinion in Ophthalmology, ISSN 1040-8738, 09/2019, Volume 30, Issue 5, pp. 306 - 313
PURPOSE OF REVIEWThe literature regarding prophylactic treatment of rhegmatogenous retinal detachment in Stickler syndrome remains controversial. We review... 
Prevention | Causes of | Complications and side effects | Retinal detachment | Stickler syndrome | Index Medicus
Journal Article
OPHTHALMOLOGY, ISSN 0161-6420, 08/2019, Volume 126, Issue 8, pp. 1189 - 1195
Purpose: To evaluate outcomes of unilateral cataract surgery in children 7 to 24 months of age. Design: Retrospective case series at 10 Infant Aphakia... 
SURGERY | 1ST 5 YEARS | LONG-TERM OUTCOMES | OPHTHALMOLOGY | INTRAOCULAR-LENS IMPLANTATION | COMPLICATIONS | STRABISMUS | GLAUCOMA | ADVERSE EVENTS | Vision disorders in children | Cataract | Intraocular lenses
Journal Article
Ophthalmology, ISSN 0161-6420, 08/2019, Volume 126, Issue 8, pp. 1189 - 1195
To evaluate outcomes of unilateral cataract surgery in children 7 to 24 months of age. Retrospective case series at 10 Infant Aphakia Treatment Study (IATS)... 
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 08/2019
ImportanceSensitive outcome measures for disease progression are needed for treatment trials of Stargardt disease. ObjectiveTo estimate the progression rate of... 
Index Medicus | Abridged Index Medicus
Journal Article
Journal of American Association for Pediatric Ophthalmology and Strabismus, ISSN 1091-8531, 06/2019
To better understand AAPOS member pediatric ophthalmologists' knowledge and needs regarding genetic eye disorders, the AAPOS Genetic Eye Disease Task Force... 
Index Medicus
Journal Article
Brain : a journal of neurology, ISSN 0006-8950, 06/2019, Volume 142, Issue 6, pp. 1528 - 1534
Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal recessive mode of... 
foveal hypoplasia | AHR | consanguinity | nystagmus | DOMAIN | VARIANTS | RECEPTOR | LOCUS | NEUROSCIENCES | CLINICAL NEUROLOGY | FAMILY | GENE | FRMD7 | MAPS | CONGENITAL NYSTAGMUS | TRANSACTIVATION
Journal Article
OPHTHALMIC SURGERY LASERS & IMAGING RETINA, ISSN 2325-8160, 06/2019, Volume 50, Issue 6, pp. E188 - E192
Choroidal neovascular membrane (CNVM) is a rare complication of choroideremia. The authors report a case of a 13-year-old male presenting with metamorphopsia... 
SURGERY | OPHTHALMOLOGY | COHERENCE TOMOGRAPHY-ANGIOGRAPHY
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 2019, Volume 137, Issue 4, pp. 355 - 357
Ocular phenotypes of genetically determined eye disorders vary widely and overlap in physical findings and clinical appearance. This is particularly true of... 
OPHTHALMOLOGY | AXENFELD-RIEGER-SYNDROME | FOXC1 | MUTATIONS | PITX2 | Hypoplasia | Pax6 protein | Iris | Phenotypes | Congenital defects | Aniridia | Eye disorders | Retina | Ophthalmology | Index Medicus | Abridged Index Medicus
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 01/2019, Volume 40, Issue 1, pp. 34 - 38
Purpose: Wolfram syndrome is characterized by early onset diabetes mellitus, diabetes insipidus, deafness, and optic atrophy, but retinal degeneration has not... 
optic atrophy | retinal degeneration | diabetes mellitus | Wolfram syndrome | electroretinography | diabetes insipidus | OPHTHALMOLOGICAL FINDINGS | PATTERN | JUVENILE DIABETES-MELLITUS | GENETICS & HEREDITY | OPHTHALMOLOGY | POTENTIALS
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 11/2018, Volume 39, Issue 6, pp. 671 - 677
Significant discoveries in the etiology and pathogenesis of inherited retinal diseases (IRDs) have been made in the last few decades. Of the large number genes... 
Leber Congenital Amaurosis | gene therapy | clinical trials | voretigine neparvovec | RPE65 | MOLECULAR-GENETICS | VISUAL CYCLE | VISION | EFFICACY | SAFETY | RPE65 MUTATIONS | CLINICAL-FEATURES | DOMINANT MUTATION | DYSTROPHY | GENETICS & HEREDITY | OPHTHALMOLOGY | Index Medicus
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 09/2018, Volume 39, Issue 5, pp. 657 - 658
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
by Shaaban, Sherin and Mackinnon, Sarah and Andrews, Caroline and Staffieri, Sandra E and Maconachie, Gail D. E and Chan, Wai-Man and Whitman, Mary C and Morton, Sarah U and Yazar, Seyhan and Macgregor, Stuart and Elder, James E and Traboulsi, Elias I and Gottlob, Irene and Hewitt, Alex W and Hunter, David G and Mackey, David A and Engle, Elizabeth C and Baglieri, Anna and Barry, Brenda and Bekele, Sarah and Breau, Sarah E and Chan, Kimberley and Corkin, Frances and Dagi, Linda R and Elliott, Alexandra and Esligar, Janet and Fang, Caroline and Fulton, Anne B and Heidary, Gena and Johnston, Suzanne and Kazlas, Melanie and Ledoux, Danielle M and Levy, Richard L and Mantagos, Iason S and Miller, Kathryn B and Mills, Monte and Oystreck, Darren and Petersen, Christina S and Petersen, Robert A and Pierce, Carrie E and Raghuram, Aparna and Robb, Richard and Sandoval, Josephine C and Sethee, Sonia and Shah, Ankoor S and Smith, Lois E. H and Toffoloni, Melissa and Vanderveen, Deborah K and Whitecross, Sarah and Wong, Rupa K and Wu, Carolyn and Barbour, Julie and Clarke, Linda and Dondey, Joanne C and Flaherty, Maree and Grigg, John and Hanman, Kate and Haybittel, Michael and Jamieson, Robyn V and Kearns, Lisa S and Kowal, Lionel and Lam, Geoffrey C and Joon, Troy Lim and McKenzie, John and Rose, Loren and Ruddle, Jonathan B and Scotter, Lindsey and Sinclair, Neil E and Wilkinson, Colleen and Wilkinson, Robin and Sheth, Viral and Thomas, Mervyn G and Strabismus Genetics Res Consortium and Strabismus Genetics Research Consortium
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 08/2018, Volume 59, Issue 10, pp. 4054 - 4064
PURPOSE. To identify genetic variants conferring susceptibility to esotropia. Esotropia is the most common form of comitant strabismus, has its highest... 
Esotropia | Parent-of-origin | Strabismus | Genome-wide association study | WRB | RISK-FACTORS | VISION | VISUAL IMPAIRMENT | PREVALENCE | PREGNANCY | DNA METHYLATION ANALYSIS | strabismus | ADULT STRABISMUS | genome-wide association study | DOWN-SYNDROME | OPHTHALMOLOGY | MATERNAL SMOKING | esotropia | parent-of-origin | Index Medicus | Genetics
Journal Article
Journal of AAPOS, ISSN 1091-8531, 08/2018, Volume 22, Issue 4, pp. e3 - e3
Journal Article