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List of works by Arlene Drack

A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

article

A comparison of grating visual acuity, strabismus, and reoperation outcomes among children with aphakia and pseudophakia after unilateral cataract surgery during the first six months of life

scientific article published on 01 April 2001

A curved, hinged ruler for measurement along the globe

scientific article published on 01 August 1992

A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.

scientific article published on 22 December 2011

A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.

scientific article published on 22 July 2013

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

scientific article published on 20 April 2016

Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.

scientific article

Anterior hyaloid face opacification after pediatric Nd:YAG laser capsulotomy.

scientific article

Author reply: To PMID 22944025

scientific article published on 01 October 2013

Avoidance and treatment of retinopathy of prematurity.

scientific article

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

scientific article

Balloon dilatation for treatment of resistant nasolacrimal duct obstruction

scientific article published on 01 December 1997

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

scientific article

CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.

scientific article published on 8 May 2014

CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration.

scientific article published on 22 March 2018

Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy

scientific article

Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (batten disease).

scientific article published on 3 November 2014

Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism

scientific article published in 2021

Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1)

scientific article published on 01 December 2001

Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy.

scientific article

Compliance with safety glasses wear in monocular children

scientific article published on 01 March 1994

Correlation between electroretinography, foveal anatomy and visual acuity in albinism

scientific article published on 29 March 2019

Different fate of antibodies to surface IgM and IgD in germinal centre cell-associated lymphomas

scientific article published on 01 May 1984

Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice

scientific article

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

scientific article published on 17 December 2018

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

scientific article published on 13 July 2017

Efficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3).

scientific article

Efficacy of topical brinzolamide in children with retinal dystrophies

scientific article published on 01 August 2019

Expanded retinal disease spectrum associated with autosomal recessive mutations in GUCY2D.

scientific article published on 17 March 2018

From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology

scientific article

Gene Therapy for Blinding Pediatric Eye Disorders.

scientific article published on August 2015

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

scientific article published on 01 May 1993

Genotype-phenotype analysis of the branchio-oculo-facial syndrome

scientific article

Heterochromia after pediatric cataract surgery

scientific article published on 01 February 2000

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

scientific article published on 19 February 2014

Improved ocular alignment with adjustable sutures in adults undergoing strabismus surgery.

scientific article published on 29 October 2011

Induction of maturation of human B-cell lymphomas in vitro. Morphologic changes in relation to immunoglobulin and DNA synthesis.

scientific article published on June 1984

Infantile cataracts

scientific article published on 01 May 1996

Is age-related macular degeneration a microvascular disease?

scientific article published on January 2014

Long-term surgical and visual outcomes in primary congenital glaucoma: 360 degrees trabeculotomy versus goniotomy

scientific article published on 01 August 2000

Longitudinal changes in the refractive errors of children with tears in Descemet's membrane following forceps injuries.

scientific article published in August 2004

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

scientific article

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma

scientific article

Ophthalmic manifestations of Danon disease

scientific article

Ophthalmologic complications in children with chronic hepatitis C treated with pegylated interferon

scientific article

Optic nerve abnormalities in children: a practical approach

scientific article published on 16 June 2011

Optic nerve hypoplasia: absence of posterior pituitary bright signal on magnetic resonance imaging correlates with diabetes insipidus.

scientific article published on November 1996

Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

scientific article published on 27 August 2013

Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases

scientific article

Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children

scientific article published on 8 March 2018

Prevalence and characteristics of abnormal head posture in children with Down syndrome: a 20-year retrospective, descriptive review.

scientific article published on 12 June 2011

Preventing blindness in premature infants.

scientific article published in May 1998

Progression of retinopathy in olivopontocerebellar atrophy with retinal degeneration

scientific article published on May 1, 1992

RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration.

scientific article

Recommendations for Genetic Testing of Inherited Eye Diseases

scientific article published on 01 September 2012

Refractive surgery for unilateral high myopia in children.

scientific article

Refractive surgery in children.

scientific article

Retinopathy of prematurity

scientific article published on 01 January 2006

Strabismus and mitochondrial defects in chronic progressive external ophthalmoplegia

scientific article published on 01 February 1997

Strabismus surgery in patients receiving warfarin anticoagulation

scientific article published on 01 February 2014

Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1.

scientific article published on 11 September 2013

Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force

scientific article published on 21 June 2019

TRIP8b is required for maximal expression of HCN1 in the mouse retina

scientific article

TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice

scientific article published on 5 January 2012

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

scientific article

The role of light toxicity in retinopathy of prematurity and congenital cataract

scientific article published on 01 February 1994

Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq

scientific article

Transient lens changes after diode laser retinal photoablation for retinopathy of prematurity

scientific article published on 01 October 1994

Transient punctate lenticular opacities as a complication of argon laser photoablation in an infant with retinopathy of prematurity

scientific article published on 01 May 1992

Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration

scientific article published on 11 July 2016

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290

scientific article published on February 2013

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa

scientific article

Vitritis in pediatric genetic retinal disorders

scientific article

What I learned from Irene Hussels Maumenee.

scientific article published in January 2017

Which Leber congenital amaurosis patients are eligible for gene therapy trials?

scientific article

Wide-Field Swept-Source OCT and Angiography in X-Linked Retinoschisis

scientific article published on 19 September 2018

α2δ-4 Is Required for the Molecular and Structural Organization of Rod and Cone Photoreceptor Synapses.

scientific article published on 6 June 2018

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