Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene
Autor: | Huttunen J, Carlsson E, Tiina Alitalo, Henrik Forsius, Lauronen L, Tuupanen S, R. Jalkanen, Lindh S, E.-M. Sankila |
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Rok vydání: | 2005 |
Předmět: |
Adult
Male Ocular albinism medicine.medical_specialty genetic structures Clinical Science - Scientific Reports Nystagmus Biology Eye medicine.disease_cause Cellular and Molecular Neuroscience Exon Nerve Fibers Ophthalmology medicine Humans Point Mutation Eye Proteins Family Health Genetics Mutation Membrane Glycoproteins Retinal pigment epithelium Point mutation Magnetoencephalography Genetic Diseases X-Linked Optic Nerve Middle Aged Albinism Ocular medicine.disease eye diseases Sensory Systems Pedigree medicine.anatomical_structure Optic nerve Albinism Female sense organs Visual Fields medicine.symptom |
Zdroj: | British Journal of Ophthalmology. 89:820-824 |
ISSN: | 0007-1161 |
Popis: | Aim: To perform genealogical and clinical studies in Finnish families with X linked ocular albinism (OA1), including characterisation of the potential misrouting of optic fibres by evaluating visual evoked magnetic fields (VEFs), and to determine the mutation behind the disease. Methods: Three families with OA1 were clinically examined. VEFs were measured in two affected males and in one female carrier to characterise the cortical activation pattern after monocular visual stimulation. The neuronal sources of the VEFs were modelled with equivalent current dipoles (ECDs) in a spherical head model. All coding exons of the OA1 gene were screened for mutations by single strand conformation analysis and direct polymerase chain reaction sequencing. Results: Genealogical studies revealed that the three families were all related. The affected males had foveal hypoplasia with reduced visual acuity varying from 20/200 to 20/50, variable nystagmus, iris transillumination, and hypopigmentation of the retinal pigment epithelium. The ECD locations corresponding to the VEFs revealed abnormal crossing of the optic fibres in both affected males, but not in the carrier female. A novel point mutation, leading to a STOP codon, was identified in the fifth exon of the OA1 gene. Conclusions: The data indicate that the novel mutation 640C>T in the OA1 gene is the primary cause of the eye disease in the family studied. VEFs with ECD analysis was successfully used to demonstrate abnormal crossing of the optic fibres. |
Databáze: | OpenAIRE |
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