Diagnosis of oculocutaneous albinism with molecular analysis
| Autor: | W. S. Oetting, C. G. Summers, Richard A. King |
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| Rok vydání: | 1996 |
| Předmět: |
Decussation
Adult medicine.medical_specialty Visual acuity genetic structures Fundus Oculi Eye disease Visual Acuity Nystagmus Nystagmus Pathologic Retina Ophthalmology medicine Humans Strabismus Molecular Biology Pigmentation disorder Esotropia business.industry Monophenol Monooxygenase medicine.disease Oculocutaneous albinism eye diseases Hypoplasia Albinism Oculocutaneous Mutation Evoked Potentials Visual Female sense organs medicine.symptom business |
| Zdroj: | American journal of ophthalmology. 121(6) |
| ISSN: | 0002-9394 |
| Popis: | Purpose To use molecular analysis to diagnose oculocutaneous albinism in a patient with an atypical clinical presentation. Methods A 34-year-old woman with a history of strabismus and absent cutaneous pigment underwent comprehensive ophthalmic examination, visual-evoked potentials to detect altered optic decussation, and molecular analysis. Results Examination showed fine nystagmus, iris transillumination, foveal hypoplasia, and corrected visual acuity of 20/25 in each eye. Misrouting of the retinostriate fibers was demonstrated with visual-evoked potentials. Mutations in the tyrosinase gene established the diagnosis of oculocutaneous albinism 1 even though the patient had atypical clinical features. Conclusion Molecular analysis can establish the diagnosis of oculocutaneous albinism 1 in the patient with atypical ocular features. |
| Databáze: | OpenAIRE |
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