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Journal Articles (7)
Meeting Abstract (3)

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Investigative Ophthalmology & Visual Science (10)

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Retina (4)
ARVO Annual Meeting Abstract (3)
Biochemistry and Molecular Biology (1)
Genetics (1)
Glaucoma (1)

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Genetics (7)
Retina (4)
Eye Anatomy and Disorders (3)
Biochemistry and Molecular Biology (1)
Glaucoma (1)

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family (7)
mutation (6)
genes (4)
cohort studies (3)
retinitis pigmentosa (3)
alleles (2)
phenotype (2)
catechol oxidase (1)
choroidal neovascularization (1)
genotype (1)

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ARVO Annual Meeting Abstract June 2020

North Carolina Macular Dystrophy (NCMD/MCDR1): Haplotype analysis shows single ancestral founder in 13 American families

Kent W Small; Edwin M Stone; Monique J Leys; Richard Alan Lewis; Steven Agemy; Charles A Garcia; Todd Schneiderman; Thomas A Rice; Fadi Shaya

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4462. doi:

ARVO Annual Meeting Abstract June 2017

North Carolina macular dystrophy: mutations found in 12 additional families

Kent W Small; Fadi Shaya; Svetlana Yelchits; Adam P DeLuca; Richard Alan Lewis; Monique J Leys; Nitin Udar; Benjamin Bakall; Klaus Rohrschneider; Bernard Puech; Virginie Puech; Elise Heon; James C Folk; Gerald A Fishman; Christine Garabetian; Edwin M Stone

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2779. doi:

ARVO Annual Meeting Abstract June 2017

3-month Interim Report of a Prospective 12-month Safety and Efficacy Study of Topical PG324 (Fixed Combination of Netarsudil 0.02% and Latanoprost 0.005%) Compared to the Individual Components in Subjects with Elevated Intraocular Pressure

Janet B Serle; Richard Alan Lewis; Casey Kopczynski; Theresa Heah

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2462. doi:

Genetics February 2013

Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa

PDF

Jennifer D. Churchill; Sara J. Bowne; Lori S. Sullivan; Richard Alan Lewis; Dianna K. Wheaton; David G. Birch; Kari E. Branham; John R. Heckenlively; Stephen P. Daiger
TAGS: family, genes, mutation, retinitis pigmentosa, x-linked inheritance, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2013; 54(2):1411-1416. doi: https://doi.org/10.1167/iovs.12-11541

Retina March 2009

Mutation Survey of Known LCA Genes and Loci in the Saudi Arabian Population

PDF

Yumei Li; Hui Wang; Jianlan Peng; Richard A. Gibbs; Richard Alan Lewis; James R. Lupski; Graeme Mardon; Rui Chen
TAGS: family, genes, mutation, surveys
Invest. Ophthalmol. Vis. Sci.. 2009; 50(3):1336-1343. doi: https://doi.org/10.1167/iovs.08-2589

Retina July 2006

Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families

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Lori S. Sullivan; Sara J. Bowne; David G. Birch; Dianna Hughbanks-Wheaton; John R. Heckenlively; Richard Alan Lewis; Charles A. Garcia; Richard S. Ruiz; Susan H. Blanton; Hope Northrup; Anisa I. Gire; Robyn Seaman; Hatice Duzkale; Catherine J. Spellicy; Jingya Zhu; Suma P. Shankar; Stephen P. Daiger
TAGS: family, genes, mutation, retinitis pigmentosa, prevalence, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2006; 47(7):3052-3064. doi: https://doi.org/10.1167/iovs.05-1443

Includes: Supplemental Content

Glaucoma April 2006

Of Mice and Men: Tyrosinase Modification of Congenital Glaucoma in Mice but Not in Humans

PDF

Carla Bidinost; Natalie Hernandez; Deepak P. Edward; Ali Al-Rajhi; Richard Alan Lewis; James R. Lupski; David W. Stockton; Bassem A. Bejjani
TAGS: catechol oxidase, glaucoma, congenital, mice, monophenol monooxygenase, family, mutation
Invest. Ophthalmol. Vis. Sci.. 2006; 47(4):1486-1490. doi: https://doi.org/10.1167/iovs.05-0763

Retina August 2003

Late-Onset Autosomal Dominant Macular Dystrophy with Choroidal Neovascularization and Nonexudative Maculopathy Associated with Mutation in the RDS Gene

PDF

Shahrokh C. Khani; Athanasios J. Karoukis; Joyce E. Young; Rajesh Ambasudhan; Tracy Burch; Richard Stockton; Richard Alan Lewis; Lori S. Sullivan; Stephen P. Daiger; Elias Reichel; Radha Ayyagari
TAGS: choroidal neovascularization, genes, macular disorders, macular dystrophy, mutation, family, phenotype
Invest. Ophthalmol. Vis. Sci.. 2003; 44(8):3570-3577. doi: https://doi.org/10.1167/iovs.02-1287

Retina February 2002

Genotype–Phenotype Analysis of ABCR Variants in Macular Degeneration Probands and Siblings

PDF

Paul S. Bernstein; Mark Leppert; Nanda Singh; Michael Dean; Richard Alan Lewis; James R. Lupski; Rando Allikmets; Johanna M. Seddon
TAGS: genotype, macular degeneration, phenotype, proband, relationship - sibling, family, alleles, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2002; 43(2):466-473. doi:

Biochemistry and Molecular Biology November 2001

Null Missense ABCR ( ABCA4 ) Mutations in a Family with Stargardt Disease and Retinitis Pigmentosa

PDF

Noah F. Shroyer; Richard Alan Lewis; Alexander N. Yatsenko; James R. Lupski
TAGS: family, mutation, retinitis pigmentosa, stargardt's disease, alleles
Invest. Ophthalmol. Vis. Sci.. 2001; 42(12):2757-2761. doi:

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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