Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure
| Autor: | Barbara Burgos-Blasco, B. Domingo-Gordo, E. Hernández-García, Carlos Llorente-La-Orden, Rosario Gómez-de-Liaño |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty genetic structures Opsoclonus Biology medicine.disease eye diseases 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Ophthalmology Pediatrics Perinatology and Child Health 030221 ophthalmology & optometry medicine Blue cone monochromatism Genetics (clinical) Light exposure |
| Zdroj: | J Pediatr Genet |
| Popis: | Blue cone monochromatism (BCM) is a rare X-linked congenital vision disorder that is characterized by a cone dysfunction. We present a case of a 3-year-old boy referred to our department with abnormal eye movements since birth, impaired vision, and difficulties in distinguishing colors. A tendency to stare at the sun was noted. Examination revealed severe loss of visual acuity, high myopia, and opsoclonus. A mutation screening of OPN1LW/OPN1MW gene cluster was performed showing a nucleotide substitution encoding a Cys203Arg (C203R) missense mutation. The diagnosis of BCM in this case was clear and the patient harbored the most frequent genetic alteration. Opsoclonus and continued voluntary light exposure are novel features that have not been previously reported in BCM. |
| Databáze: | OpenAIRE |
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