Bilateral NAION and GPIbα gene
| Autor: | Christopher M. Knapp, Christina S. Lim, Ajoy Sarkar |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Male
medicine.medical_specialty genetic structures Case Report Minisatellite Repeats Platelet membrane glycoprotein Bilateral optic neuropathy 03 medical and health sciences 0302 clinical medicine lcsh:Ophthalmology Ophthalmology medicine Humans Optic Neuropathy Ischemic Platelet GPIbα Allele Gene Alleles Genetic testing chemistry.chemical_classification medicine.diagnostic_test Eye involvement business.industry General Medicine Middle Aged Platelet glycoprotein eye diseases Variable number tandem repeat Platelet Glycoprotein GPIb-IX Complex chemistry lcsh:RE1-994 030221 ophthalmology & optometry Glycoprotein business 030217 neurology & neurosurgery |
| Zdroj: | BMC Ophthalmology, Vol 19, Iss 1, Pp 1-3 (2019) BMC Ophthalmology |
| ISSN: | 1471-2415 |
| DOI: | 10.1186/s12886-018-1010-0 |
| Popis: | Background It has been previously reported that one copy of the variable number tandem repeat (VNTR) B alleles of the GPIbα gene increases the risk of non-arteritic ischaemic optic neuropathy (NAION) and the second eye involvement. This is the first case where the presence of both alleles is associated with bilateral NAION. Case presentation A 52-year-old male presented with loss of vision in one eye and was diagnosed with NAION. The following year, he suffered another attack of NAION in the fellow eye. Genetic testing showed that he had both copies of VNTR B alleles of the GPIbα gene. Conclusions We report a case of bilateral NAION in the presence of two copies of VNTR B alleles of the GPIbα gene. This may have further implications for the function of platelet glycoproteins. |
| Databáze: | OpenAIRE |
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