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Journal of AAPOS, ISSN 1091-8531, 2010, Volume 14, Issue 1, pp. e26 - e26
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, 01/2018, Volume 39, Issue 1, pp. 120 - 124
Background: To present the ophthalmological findings of a mother and son initially diagnosed with benign concentric annular macular dystrophy (BCAMD) and later... 
bull's eye maculopathy | CRX mutation | Retinal dystrophy | cone-rod homeobox gene | benign concentric macular dystrophy | bull’s eye maculopathy | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | OPHTHALMOLOGY | Index Medicus
Journal Article
Journal of AAPOS, ISSN 1091-8531, 2015, Volume 19, Issue 4, pp. e77 - e77
Journal Article
Journal of AAPOS, ISSN 1091-8531, 2015, Volume 19, Issue 4, pp. e24 - e24
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
Journal of AAPOS, ISSN 1091-8531, 2008, Volume 12, Issue 4, pp. 421 - 421
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 12/2014, Volume 132, Issue 12, pp. 1393 - 1399
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 05/2017, Volume 38, Issue 3, pp. 299 - 299
Journal Article
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
Human Mutation, ISSN 1059-7794, 07/2015, Volume 36, Issue 7, pp. 720 - 727
Journal Article
Archives of Disease in Childhood, ISSN 0007-1161, 02/2013, Volume 97, Issue 2, p. 184
Purpose To compare inferior oblique (IO) myectomy with recession for the treatment of superior oblique (SO) palsy. Methods A retrospective review of medical... 
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 02/2013, Volume 97, Issue 2, pp. 184 - 188
Journal Article
Journal of AAPOS, ISSN 1091-8531, 04/2018, Volume 22, Issue 2, pp. 150 - 152.e1
We present the case of a 6-year old girl with Leigh syndrome and an orbital rhabdomyosarcoma and describe her clinical course and our multidisciplinary... 
OPHTHALMOLOGY | PEDIATRICS | Index Medicus
Journal Article
Molecular Genetics and Genomics, ISSN 1617-4615, 6/2018, Volume 293, Issue 3, pp. 699 - 710
We investigated an Amish family in which three siblings presented with an early-onset childhood retinal dystrophy inherited in an autosomal recessive fashion.... 
Life Sciences | Human Genetics | Biochemistry, general | IQCB1 | Early-onset childhood retinal dystrophy | Plant Genetics and Genomics | Amish | Microbial Genetics and Genomics | Jalili syndrome | CNNM4 mutation | Animal Genetics and Genomics | Leber congenital amaurosis (LCA) | COMPREHENSIVE MOLECULAR DIAGNOSIS | SEVERE RETINAL DYSTROPHY | AMELOGENESIS IMPERFECTA | BIOCHEMISTRY & MOLECULAR BIOLOGY | LEBER CONGENITAL AMAUROSIS | GENE | CONE-ROD DYSTROPHY | GENETICS & HEREDITY | RETINITIS-PIGMENTOSA | CLINICAL PHENOTYPE | CEP290 | Genetic Predisposition to Disease | Prospective Studies | Humans | Retinitis Pigmentosa - genetics | Male | Calmodulin-Binding Proteins - metabolism | Leber Congenital Amaurosis - genetics | Amelogenesis Imperfecta - genetics | Codon, Nonsense | Whole Exome Sequencing - methods | Nonsense Mediated mRNA Decay | Young Adult | Amish - genetics | Cation Transport Proteins - metabolism | Pedigree | Adolescent | Protein Binding | Protein Domains | Cation Transport Proteins - genetics | Cone-Rod Dystrophies | Female | Retrospective Studies | Cation Transport Proteins - chemistry | Genetic Linkage | Nonsense mutation | Blindness | Retinal degeneration | Retina | Genomes | Children | Mutation | Dystrophy | Chromosome 2 | Age | Apoptosis | Linkage analysis | Index Medicus | Early onset childhood retinal | dystrophy
Journal Article
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