2009-32: Phenotyping and genotyping of retinal dystrophies in The Netherlands
Medical retina
Molecular biology
Investigator Initiated Research
Inclusion open since 18-8-2011
Retinal dystrophies (RD) represent a group of inherited ophthalmic diseases, which are characterized by dysfunction of, or progressive loss of photoreceptor cells, often accompanied by fundus abnormalities. Approximately 115 genes are known to be mutated in these diseases. Together, these mutations cause ~50% of the inherited retinal dystrophies. Knowledge about the genetic causes has improved genetic counselling of the individual patient and enlarged our knowledge about retinal function and dysfunction in retinal dystrophies. It has also led to the first gene therapy trials in patients with RPE65 mutations recently. The aim of this national diagnostics cohort study is to collect and clinically characterize a large cohort of patients with hereditary retinal dystrophies in the Netherlands. The final goal is to provide a more reliable prognosis to patients, to provide better genetic counselling, to discover new genes associated with retinal dystrophies, and to collect larger groups of patients carrying a genetic defect in one of the retinal dystrophy genes. The latter will be essential for the implementation of therapeutic strategies in the near future.
Publications
- Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. Ophthalmology 2013, Volume 120, Issue 12, pages 2697-705
- Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum. Mutat. 2013, Volume 34, Issue 11, pages 1537-46
- Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am. J. Hum. Genet. 2013, Volume 93, Issue 1, pages 110-7
- Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. Ophthalmology 2013, Volume 120, Issue 10, pages 2072-81
- Accuracy of four commonly used color vision tests in the identification of cone disorders. Ophthalmic Epidemiol 2013, Volume 20, Issue 2, pages 114-21
- Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. Ophthalmology 2013, Volume 120, Issue 6, pages 1239-46
- Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. Ophthalmology 2013, Volume 120, Issue 4, pages 809-20
- Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology 2012, Volume 119, Issue 4, pages 819-26
- Clinical course of cone dystrophy caused by mutations in the RPGR gene. Graefes Arch. Clin. Exp. Ophthalmol. 2011, Volume 249, Issue 10, pages 1527-35
- The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. Mol. Vis. 2015, Volume 21, Issue , pages 461-476
- A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2015, Volume 56, Issue 12, pages 7418-7426
- Inherited retinal dystrophies. Studies on the clinical and genetic characteristics. Thesis. [Publication was made possible by either SWOO (co-)funding or the involvement of the REH/ROI, or its affiliates, in perfoming this research.] 2015
- Long-term Follow-up of Patients with Retinitis Pigmentosa Type 12 Caused by CRB1 Mutations: A Severe Phenotype With Considerable Interindividual Variability. Retina (Philadelphia, Pa.) 2017, Volume 37, Issue 1, pages 161-172
- Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2016, Volume 57, Issue 14, pages 6180-6187
- Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. Ophthalmology 2017, Volume 124, Issue 7, pages 992-1003
- Development of refractive errors - what can we learn from inherited retinal dystrophies? Am. J. Ophthalmol. 2017, Volume 182, Issue , pages 81-89
- Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. J. Med. Genet. 2017, Volume 54, Issue 9, pages 624-632
- A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290. Genes (Basel) 2017, Volume 8, Issue 8, pages pii: E208
- ABCA4 midigenes reveal the full splice spectrum of all reported non-canonical splice site variants in Stargardt disease. Genome Res. 2018, Volume 28, Issue 1, pages 100-110
- Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes. Genes (Basel) 2018, Volume 9, Issue 1, pages
- CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study. Retina (Philadelphia, Pa.) 2019, Volume 39, Issue 6, pages 1186-1199
- The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants. Invest. Ophthalmol. Vis. Sci. 2018, Volume 59, Issue 8, pages 3220-3231
- The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene. Invest. Ophthalmol. Vis. Sci. 2018, Volume 59, Issue 10, pages 4123-4133
- Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. J. Med. Genet. 2018, Volume 55, Issue 10, pages 705-712
- Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290. Invest. Ophthalmol. Vis. Sci. 2018, Volume 59, Issue 11, pages 4384-4391
- Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. Genet. Med. 2019, Volume 21, Issue 8, pages 1751-1760
- Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy. Invest. Ophthalmol. Vis. Sci. 2019, Volume 60, Issue 6, pages 2049-2063