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J Pediatr Genet 2022; 11(02): 151-153
DOI: 10.1055/s-0040-1716332
Case Report

Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure

Carlos Llorente-La-Orden 
1   Servicio de Oftalmología, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain
,
Bárbara Burgos-Blasco 
1   Servicio de Oftalmología, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain
,
Blanca Domingo-Gordo
1   Servicio de Oftalmología, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain
,
Elena Hernández-García
1   Servicio de Oftalmología, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain
,
Rosario Gómez-de-Liaño
1   Servicio de Oftalmología, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain
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Abstract

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.

Keywords

monochromatism - opsoclonus - cones


Publication History

Received: 03 June 2020

Accepted: 23 July 2020

Article published online:
31 August 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
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