Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

To assess the incidence of Stargardt disease (STGD1) and to evaluate demographics of incident cases.

[1]  F. Grassmann,et al.  Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides , 2019, Genetics in Medicine.

[2]  J. Lupski,et al.  A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy , 1997, Nature Genetics.

[3]  G. Holder,et al.  The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients. , 2016, Investigative ophthalmology & visual science.

[4]  J. Lupski,et al.  Genotyping microarray (gene chip) for the ABCR (ABCA4) gene , 2003, Human mutation.

[5]  S. Tsang,et al.  Structural and genetic assessment of the ABCA4-associated optical gap phenotype. , 2014, Investigative ophthalmology & visual science.

[6]  Christine M. Cutillo,et al.  Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective , 2017, Clinical and translational science.

[7]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[8]  F. Cremers,et al.  Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles. , 2019, Investigative ophthalmology & visual science.

[9]  N. Scott,et al.  The Epidemiology of Stargardt Disease in the United Kingdom. , 2017, Ophthalmology. Retina.

[10]  F. Cremers,et al.  Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease. , 2018, Investigative ophthalmology & visual science.

[11]  P. Gouras,et al.  Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes , 2018, Cold Spring Harbor molecular case studies.

[12]  R. Collin,et al.  Molecular Therapies for Inherited Retinal Diseases , 2020 .

[13]  F. Cremers,et al.  In Silico Functional Meta‐Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases , 2017, Human mutation.

[14]  M. E. Ivanova,et al.  Stargardt disease-associated mutation spectrum of a Russian Federation cohort. , 2017, European journal of medical genetics.

[15]  E. Vallespín,et al.  Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease , 2008, British Journal of Ophthalmology.

[16]  F. Cremers,et al.  Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations , 2020, Progress in Retinal and Eye Research.

[17]  R. Allikmets,et al.  Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. , 2013, Ophthalmology.

[18]  B. J. Klevering,et al.  The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases. , 2014, Investigative ophthalmology & visual science.

[19]  D. Mackey,et al.  Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia , 2021, Ophthalmic genetics.

[20]  R. Collin,et al.  Molecular Therapies for Inherited Retinal Diseases—Current Standing, Opportunities and Challenges , 2019, Genes.

[21]  S. Auvin,et al.  The Problem of Rarity: Estimation of Prevalence in Rare Disease. , 2018, Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.

[22]  B. J. Klevering,et al.  Early-onset stargardt disease: phenotypic and genotypic characteristics. , 2015, Ophthalmology.

[23]  B. J. Klevering,et al.  Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa. , 2004, Ophthalmology.

[24]  Dr. K. Stargardt.  Über familiäre, progressive Degeneration in der Maculagegend des Auges , 1909, Albrecht von Graefes Archiv für Ophthalmologie.

[25]  S. Tsang,et al.  Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration , 2017, Journal of Medical Genetics.

[26]  C. Klaver,et al.  Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease. , 2020, JAMA ophthalmology.

[27]  J. Pesquero,et al.  Variants in the ABCA4 gene in a Brazilian population with Stargardt disease , 2018, Molecular vision.

[28]  C. Sánchez,et al.  Highly Variable Disease Courses in Siblings with Stargardt Disease. , 2019, Ophthalmology.

[29]  A. D. den Hollander,et al.  Clinical and genetic characteristics of late-onset Stargardt's disease. , 2012, Ophthalmology.

[30]  C. Klaver,et al.  The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants. , 2018, Investigative ophthalmology & visual science.

[31]  D. Sharon,et al.  Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases , 2020, Proceedings of the National Academy of Sciences.