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Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

Nature medicine, 2019-02, Vol.25 (2), p.225-228

2019

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CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness

Canadian journal of ophthalmology, 2023-12

2023

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Clinical phenocopies of albinism

Journal of AAPOS, 2021-08, Vol.25 (4), p.220-220.e8

2021

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Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D

American journal of ophthalmology, 2018-06, Vol.190, p.58-68

2018

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A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes

Disease models & mechanisms, 2023-08, Vol.16 (8)

2023

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Managing Pediatric Cataract Patients: Amblyopia Treatment and Binocularity Outcomes

Journal of binocular vision and ocular motility, 2023-10, Vol.73 (4), p.109-114

Pfeifer, Wanda

2023

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Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss

Ophthalmic genetics, 2020-04, Vol.41 (2), p.151-158

2020

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Is it Usher syndrome? Diagnosing children with hearing loss and ocular findings

Journal of AAPOS, 2015-08, Vol.19 (4), p.e50-e50

2015

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Nine-year Results of a Volunteer Lay Network Photoscreening Program of 147 809 Children Using a PhotoScreener in Iowa

Ophthalmology (Rochester, Minn.), 2010-10, Vol.117 (10), p.1869-1875

2010

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Effect of occlusion amblyopia after prescribed full-time occlusion on long-term visual acuity outcomes

Journal of pediatric ophthalmology and strabismus, 2013-03, Vol.50 (2), p.94

2013

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Comparison of prescribing patterns of ophthalmologists and optometrists to published guidelines

Journal of AAPOS, 2014-08, Vol.18 (4), p.e35-e36

2014

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Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease)

Ophthalmic genetics, 2015-01, Vol.36 (4), p.359-364

2015

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Validity of a layperson-administered Web-based vision screening test

Journal of AAPOS, 2015-02, Vol.19 (1), p.29-32

2015

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Interpretation of electroretinograms in children – know your equipment

Journal of AAPOS, 2021-08, Vol.25 (4), p.e26-e26

2021

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Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

The Lancet (British edition), 2017-08, Vol.390 (10097), p.849-860

2017

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Will my child with albinism lose vision over time? Age-related vision loss in adults with albinism

Journal of AAPOS, 2022-08, Vol.26 (4), p.e30-e30

2022

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Detection of strabismus with a vision screening device in a statewide vision screening program

Journal of AAPOS, 2021-08, Vol.25 (4), p.e66-e66

2021

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The clinical evaluation of infantile nystagmus: What to do first and why

Ophthalmic genetics, 2017-01, Vol.38 (1), p.22-33

2017

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A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations

Ophthalmic genetics, 2017-03, Vol.38 (2), p.152-156

2017

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Amblyopia Treatment Outcomes

Journal of AAPOS, 2005-04, Vol.9 (2), p.107-111

2005

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Correlation between electroretinography, foveal anatomy and visual acuity in aniridia due to PAX6 mutations

Documenta ophthalmologica, 2021-12, Vol.143 (3), p.283-295

2021

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Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

Investigative ophthalmology & visual science, 2021-12, Vol.62 (15), p.26-26

2021

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Electroretinogram abnormalities in FKRP-related limb–girdle muscular dystrophy (LGMDR9)

Documenta ophthalmologica, 2023-02, Vol.146 (1), p.7-16

2023

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Practical community photoscreening in very young children

Pediatrics (Evanston), 2013-03, Vol.131 (3), p.e764

2013

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Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial

CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness

Clinical phenocopies of albinism

Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D

A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes

Managing Pediatric Cataract Patients: Amblyopia Treatment and Binocularity Outcomes

Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss

Is it Usher syndrome? Diagnosing children with hearing loss and ocular findings

Nine-year Results of a Volunteer Lay Network Photoscreening Program of 147 809 Children Using a PhotoScreener in Iowa

Effect of occlusion amblyopia after prescribed full-time occlusion on long-term visual acuity outcomes

Comparison of prescribing patterns of ophthalmologists and optometrists to published guidelines

Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease)

Validity of a layperson-administered Web-based vision screening test

Interpretation of electroretinograms in children – know your equipment

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

Will my child with albinism lose vision over time? Age-related vision loss in adults with albinism

Detection of strabismus with a vision screening device in a statewide vision screening program

The clinical evaluation of infantile nystagmus: What to do first and why

A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations

Amblyopia Treatment Outcomes

Correlation between electroretinography, foveal anatomy and visual acuity in aniridia due to PAX6 mutations

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

Electroretinogram abnormalities in FKRP-related limb–girdle muscular dystrophy (LGMDR9)

Practical community photoscreening in very young children

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