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Genetic testing and diagnosis of inherited retinal diseases

Orphanet journal of rare diseases, 2021-12, Vol.16 (1), p.514-514, Article 514

2021

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The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis

Investigative ophthalmology & visual science, 2011-01, Vol.52 (1), p.292-302

2011

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Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

Genetics in medicine, 2010-08, Vol.12 (8), p.512-516

2010

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Clinical and Electrophysiologic Characterization of Paraneoplastic and Autoimmune Retinopathies Associated With Antienolase Antibodies

American journal of ophthalmology, 2005-05, Vol.139 (5), p.780-794

2005

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Choroideremia: Analysis of the Retina from a Female Symptomatic Carrier

Ophthalmic genetics, 2008-09, Vol.29 (3), p.99-110

2008

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Combined Retinal Hamartomas Leading to the Diagnosis of Neurofibromatosis Type 2

Ophthalmic genetics, 2008-09, Vol.29 (3), p.133-138

2008

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Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease)

Molecular genetics and metabolism, 2004-09, Vol.83 (1), p.128-137

2004

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Microcephaly with chorioretinopathy in a brother–sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype

American journal of medical genetics. Part A, 2007-06, Vol.143A (11), p.1218-1222

2007

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An evidence‐based practice guideline of the National Society of Genetic Counselors for telehealth genetic counseling

Journal of genetic counseling, 2023-02, Vol.32 (1), p.4-17

2023

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The current status of molecular diagnosis of inherited retinal dystrophies

Current opinion in ophthalmology, 2015-07, Vol.26 (5), p.346-351

2015

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Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

Investigative ophthalmology & visual science, 2012-12, Vol.53 (13), p.8232-8237

2012

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Treatment of retinal and choroidal degenerations and dystrophies: current status and prospects for gene-based therapy

Ophthalmology clinics of North America, 2003-12, Vol.16 (4), p.583

2003

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Raising the retinal disease treatment bar with genetic testing

Ophthalmology Times, 2021-03, Vol.46 (4), p.32-32

Trzupek, Karmen M

2021

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Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram

Archives of ophthalmology (1960), 2005-08, Vol.123 (8), p.1146

2005

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Clinical report. Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype

American journal of medical genetics. Part A, 2007, Vol.143 (11), p.1218-1222

2007

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Molecular testing for hereditary retinal disease as part of clinical care

Archives of ophthalmology (1960), 2007-02, Vol.125 (2), p.252

2007

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Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q

Archives of ophthalmology (1960), 1998-08, Vol.116 (8), p.1082

1998

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Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype

American Journal of Medical Genetics Part A, 2007, Vol.143A (11), p.1218-1222

2007

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Genetic testing and diagnosis of inherited retinal diseases

The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

Clinical and Electrophysiologic Characterization of Paraneoplastic and Autoimmune Retinopathies Associated With Antienolase Antibodies

Choroideremia: Analysis of the Retina from a Female Symptomatic Carrier

Combined Retinal Hamartomas Leading to the Diagnosis of Neurofibromatosis Type 2

Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease)

Microcephaly with chorioretinopathy in a brother–sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype

An evidence‐based practice guideline of the National Society of Genetic Counselors for telehealth genetic counseling

The current status of molecular diagnosis of inherited retinal dystrophies

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

Treatment of retinal and choroidal degenerations and dystrophies: current status and prospects for gene-based therapy

Raising the retinal disease treatment bar with genetic testing

Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram

Clinical report. Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype

Molecular testing for hereditary retinal disease as part of clinical care

Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q

Microcephaly with chorioretinopathy in a brother-sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype

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