Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone-Rod Dystrophy
| Autor: | Caroline C W Klaver, Bart P. Leroy, Mary J. van Schooneveld, Alberta A H J Thiadens, L. Ingeborgh van den Born, Camiel J. F. Boon, Carel B. Hoyng, Norka van Moll-Ramirez, Elfride De Baere, Arthur A.B. Bergen, Maria M. van Genderen, Jan-Willem R. Pott, Renate C. Zekveld-Vroon, Susanne Roosing, Anneke I. den Hollander, Andrew J. Lotery, T. My Lan Phan, Frans P.M. Cremers |
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| Přispěvatelé: | Ophthalmology, Pathology, Netherlands Institute for Neuroscience (NIN), ANS - Amsterdam Neuroscience, Human Genetics |
| Rok vydání: | 2012 |
| Předmět: |
Male
Genetics and epigenetic pathways of disease [NCMLS 6] genetic structures DNA Mutational Analysis Visual Acuity ABCA4 Color Vision Defects Blindness PHENOTYPE Polymerase Chain Reaction DISEASE Cone dystrophy Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2] Age of Onset Child STARGARDT MACULAR DYSTROPHY MUTATION PHOTORECEPTORS biology medicine.diagnostic_test Potassium Channels Voltage-Gated PROGRESSIVE CONE Female Retinitis Pigmentosa medicine.medical_specialty Adolescent Cyclic Nucleotide-Gated Cation Channels Vision Low AUTOSOMAL RECESSIVE CONE Ophthalmology RETINITIS-PIGMENTOSA Retinitis pigmentosa Electroretinography medicine Humans Eye Proteins Cyclic Nucleotide Phosphodiesterases Type 6 business.industry Fundus photography RPGR EXON Dystrophy ABCA4 ABCR GENE medicine.disease eye diseases Ophthalmoscopy Evaluation of complex medical interventions [NCEBP 2] biology.protein Visual Field Tests Maculopathy ATP-Binding Cassette Transporters Age of onset Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6] business Follow-Up Studies |
| Zdroj: | Ophthalmology, 119(4), 819-826. Elsevier Inc. Ophthalmology, 119, 819-826. Elsevier B.V. Ophthalmology, 119(4), 819-826. ELSEVIER SCIENCE INC Ophthalmology, 119, 4, pp. 819-26 Ophthalmology, 119, 819-26 |
| ISSN: | 0161-6420 |
| Popis: | Objective: To evaluate the clinical course, genetic etiology, and visual prognosis in patients with cone dystrophy (CD) and cone-rod dystrophy (CRD). Design: Clinic-based, longitudinal, multicenter study. Participants: Consecutive probands with CD (N = 98), CRD (N = 83), and affected relatives (N = 41 and N = 17, respectively) from various ophthalmogenetic clinics in The Netherlands, Belgium, and the United Kingdom. Methods: Data on best-corrected Snellen visual acuity, color vision, ophthalmoscopy, fundus photography, Goldmann perimetry, and full-field standard electroretinogram (ERG) from all patients were registered from medical charts over a mean follow-up of 19 years. The ABCA4, CNGB3, KCNV2, PDE6C, and RPGR genes were analyzed by direct sequencing in autosomal recessive (AR) and X-linked (XL), respectively. Genotyping was not undertaken for autosomal-dominant cases. Main Outcome Measures: The 10-year progression of all clinical parameters and cumulative lifetime risk of low vision and legal blindness were assessed. Results: The mean age onset for CD was 16 years (standard deviation, 11), and of CRD 12 years (standard deviation, 11; P = 0.02). The pattern of inheritance was AR in 92% of CD and 90% of CRD. Ten years after diagnosis, 35% of CD and 51% of CRD had a bull's eye maculopathy; 70% of CRD showed absolute peripheral visual field defects and 37% of CD developed rod involvement on ERG. The mean age of legal blindness was 48 (standard error [SE], 3.1) years in CD, and 35 (SE, 1.1; P |
| Databáze: | OpenAIRE |
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