Llorente-La-Orden Carlos, Burgos-Blasco Bárbara, Domingo-Gordo Blanca, Hernández-García Elena, Gómez-de-Liaño Rosario
Servicio de Oftalmología, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain.
J Pediatr Genet. 2020 Aug 31;11(2):151-153. doi: 10.1055/s-0040-1716332. eCollection 2022 Jun.
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 / 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.
蓝色视锥细胞单色症（BCM）是一种罕见的X连锁先天性视力障碍，其特征为视锥细胞功能障碍。我们报告一例3岁男孩，自出生以来即因眼球运动异常、视力受损及辨别颜色困难而转诊至我科。发现其有凝视太阳的倾向。检查发现视力严重丧失、高度近视及眼球阵挛。对 / 基因簇进行了突变筛查，结果显示存在编码Cys203Arg（C203R）错义突变的核苷酸替代。该病例BCM诊断明确，且患者携带最常见的基因改变。眼球阵挛及持续的自愿性光暴露是BCM中此前未报道过的新特征。
