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1. Full Text Correspondence
by Khan, Arif O
Retina, ISSN 0275-004X, 07/2016, Volume 36, Issue 7, p. e68
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2. Full Text Correspondence
by Khan, Arif O
Retina, ISSN 0275-004X, 07/2016, Volume 36, Issue 7, p. e68
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3. Full Text HOMOZYGOSITY FOR A NOVEL DOUBLE MUTANT ALLELE (G1961E/L857P) UNDERLIES CHILDHOOD-ONSET ABCA4-RELATED RETINOPATHY IN THE UNITED ARAB EMIRATES
by Khan, Arif O
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... 
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4. Full Text Recognizing bradyopsia in children
by Khan, Arif O
Journal of AAPOS, ISSN 1091-8531, 08/2018, Volume 22, Issue 4, pp. e27 - e27
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5. Full Text Further phenotypic characterization of LEPREL1-related ectopia lentis
by Khan, Arif O
Ophthalmic Genetics, ISSN 1381-6810, 01/2019, Volume 40, Issue 1, pp. 80 - 82
OPHTHALMOLOGY | LEPREL1 | GENETICS & HEREDITY
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6. Full Text The clinical presentation of bradyopsia in children
by Khan, Arif O
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
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7. Full Text Reply
by Khan, Arif O
Journal of AAPOS, ISSN 1091-8531, 12/2014, Volume 18, Issue 6, p. 622
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8. Full Text Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts
by Irum, Bushra and Khan, Shahid Y and Ali, Muhammad and Daud, Muhammad and Kabir, Firoz and Rauf, Bushra and Fatima, Fareeha and Iqbal, Hira and Khan, Arif O and Obaisi, Saif Al and Naeem, Muhammad Asif and Nasir, Idrees A and Khan, Shaheen N and Husnain, Tayyab and Riazuddin, Sheikh and Akram, Javed and Eghrari, Allen O and Riazuddin, S Amer
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
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9. Full Text Type 4 Duane syndrome
by Khan, Arif O
Journal of AAPOS, ISSN 1091-8531, 2016
Ophthalmology
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10. Full Text Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts
by Jiao, Xiaodong and Khan, Shahid Y and Irum, Bushra and Khan, Arif O and Wang, Qiwei and Kabir, Firoz and Khan, Asma A and Husnain, Tayyab and Akram, Javed and Riazuddin, Sheikh and Hejtmancik, J Fielding and Riazuddin, S Amer
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
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11. Full Text Further phenotypic characterization of LEPREL1-related ectopia lentis
by Khan, Arif O
Ophthalmic genetics, 01/2019, p. 1
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12. Full Text The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy
by Bifari, Inam N and Elkhamary, Sahar M and Bolz, Hanno J and Khan, Arif O
British Journal of Ophthalmology, ISSN 0007-1161, 06/2016, Volume 100, Issue 6, pp. 829 - 833
BackgroundConorenal syndrome is a systemic skeletal ciliopathy characterised by skeletal and renal findings and caused by biallelic mutations in the gene... 
OPHTHALMOLOGY | IFT140 | MUTATIONS | Retinal Dystrophies - congenital | Ciliopathies - etiology | Humans | Child, Preschool | Infant | Male | Young Adult | Ciliopathies - genetics | DNA Mutational Analysis | Female | Retrospective Studies | Child | Electroretinography | Retina - physiopathology | Genes, Recessive | DNA - genetics | Carrier Proteins - genetics | Homozygote | Retina - diagnostic imaging | Phenotype | Carrier Proteins - metabolism | Ciliopathies - metabolism | Pedigree | Adolescent | Retinal Dystrophies - complications | Mutation | Retinal Dystrophies - genetics | Usage | Research | Hyperopia | Chlamydomonas | Index Medicus
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13. Full Text Exotropic Duane syndrome with synergistic divergence
by Khan, Arif O
Journal of AAPOS, ISSN 1091-8531, 10/2016, Volume 20, Issue 5, pp. 470 - 470
OPHTHALMOLOGY | PEDIATRICS | MUTATIONS | RETRACTION SYNDROME | COL25A1 | Exotropia | Duane Retraction Syndrome | Humans | Oculomotor Muscles | Index Medicus
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14. Full Text Recognizing the KCNV2 -Related Retinal Phenotype
by Khan, Arif O., MD
Ophthalmology, ISSN 0161-6420, 2013, Volume 120, Issue 11, pp. e79 - e80
Ophthalmology | OPHTHALMOLOGY | Humans | Retinitis Pigmentosa - genetics | Female | Male | Polymorphism, Single Nucleotide | Mutation | Potassium Channels, Voltage-Gated - genetics | Index Medicus
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15. Full Text Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln
by Khan, Arif O
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
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16. Full Text Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG)
by Khan, Arif O
Ophthalmic Genetics, ISSN 1381-6810, 09/2018, Volume 39, Issue 5, pp. 628 - 630
Purpose: Early-onset retinal dystrophy is usually isolated but can also be the presenting manifestation of an undiagnosed systemic disease. The purpose of this... 
retinal dystrophy | congenital disorder of glycosylation | dermatitis | SRD5A3 | ABNORMALITIES | CDG | GENETICS & HEREDITY | OPHTHALMOLOGY | POLYPRENOL | DOLICHOL | Dermatitis - complications | Prognosis | Dermatitis - genetics | Membrane Proteins - genetics | Humans | Retinal Dystrophies - pathology | Congenital Disorders of Glycosylation - complications | Congenital Disorders of Glycosylation - pathology | Dermatitis - pathology | 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - genetics | Gene Deletion | Adolescent | Age of Onset | Female | Retinal Dystrophies - complications | Retrospective Studies | Chronic Disease | Retinal Dystrophies - genetics | Congenital Disorders of Glycosylation - genetics | Index Medicus
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17. Full Text Magnetic resonance imaging findings in children with spasmus nutans
by Khan, Arif O., MD
Journal of AAPOS, ISSN 1091-8531, 2017, Volume 21, Issue 4, pp. 345 - 345
Ophthalmology | OPHTHALMOLOGY | PEDIATRICS | Magnetic resonance imaging | Index Medicus
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18. Full Text Clinical features of LONP1-related infantile cataract
by Khan, Arif O and AlBakri, Amani
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
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19. Full Text Corneal ectasia in a boy with homozygous KERA mutation
by Khan, Arif O
Ophthalmic Genetics, ISSN 1381-6810, 01/2018, Volume 39, Issue 1, pp. 141 - 143
KERATOCAN | OPHTHALMOLOGY | DECOMPENSATION | PLANA | GENETICS & HEREDITY | Index Medicus
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20. Full Text Gender and response to initial angle surgery differ for CYP1B1-related primary congenital glaucoma
by Khan, Arif O and Al-Shahrani, Najah O
Journal of AAPOS, ISSN 1091-8531, 08/2017, Volume 21, Issue 4, pp. e31 - e31
Glaucoma | Genetic disorders | Surgery | Cytochrome P-450
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