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Retina, ISSN 0275-004X, 07/2016, Volume 36, Issue 7, p. e68
Journal Article
Retina, ISSN 0275-004X, 07/2016, Volume 36, Issue 7, p. e68
Journal Article
Retina, ISSN 0275-004X, 07/2019, p. 1
PURPOSEStargardt disease (On-Line Mendelian Inheritance In Man 242000, STGD1) is the most common inherited macular dystrophy. STGD1 is typically a... 
Journal Article
Journal of AAPOS, ISSN 1091-8531, 08/2018, Volume 22, Issue 4, pp. e27 - e27
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 01/2019, Volume 40, Issue 1, pp. 80 - 82
Journal Article
Journal of AAPOS, ISSN 1091-8531, 12/2017, Volume 21, Issue 6, pp. 507 - 509.e1
Diagnosing bradyopsia can be challenging in young children because structural ophthalmic examination is typically normal and visual acuity can improve with... 
OPHTHALMOLOGY | PEDIATRICS | UPDATE | DYSTROPHIES | Ophthalmology | Index Medicus
Journal Article
Journal of AAPOS, ISSN 1091-8531, 12/2014, Volume 18, Issue 6, p. 622
Journal Article
PloS one, ISSN 1932-6203, 2017, Volume 12, Issue 3, pp. e0173719 - e0173719
[This corrects the article DOI: 10.1371/journal.pone.0167562.]. 
Cataracts | Deletion | Clonal deletion | Gene deletion
Journal Article
Journal of AAPOS, ISSN 1091-8531, 2016
Journal Article
PloS one, ISSN 1932-6203, 2017, Volume 12, Issue 1, pp. e0171403 - e0171403
[This corrects the article DOI: 10.1371/journal.pone.0137973.]. 
Cataracts | Missense mutation | Mutation
Journal Article
Ophthalmic genetics, 01/2019, p. 1
Journal Article
Journal of AAPOS, ISSN 1091-8531, 10/2016, Volume 20, Issue 5, pp. 470 - 470
Journal Article
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 01/2019, Volume 40, Issue 1, pp. 60 - 63
Purpose: Heterozygous peripherin mutation is associated with a wide range of typically adult-onset retinal phenotypes which can include asymptomatic... 
peripherin | PRPH2 | recessive | cone-rod | DIAGNOSIS | LEBER CONGENITAL AMAUROSIS | GENETICS & HEREDITY | OPHTHALMOLOGY | RETINITIS-PIGMENTOSA
Journal Article
Journal of AAPOS, ISSN 1091-8531, 2017, Volume 21, Issue 4, pp. 345 - 345
Journal Article
Journal of AAPOS, ISSN 1091-8531, 06/2018, Volume 22, Issue 3, pp. 229 - 231
Biallelic mutations in the nuclear gene (LON peptidase 1, mitochondrial) cause CODAS syndrome (cerebral, ocular, dental, auricular, and skeletal anomalies), a... 
CODAS SYNDROME | SKELETAL ANOMALIES | LONP1 | OPHTHALMOLOGY | PEDIATRICS | MUTATIONS | PROTEASE | Gene mutations | Cataract
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 01/2018, Volume 39, Issue 1, pp. 141 - 143
Journal Article
Journal of AAPOS, ISSN 1091-8531, 08/2017, Volume 21, Issue 4, pp. e31 - e31
Journal Article
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