Blue Cone Monochromatism

Stephen H Tsang; Tarun Sharma

doi:10.1007/978-3-319-95046-4_14

Blue Cone Monochromatism

Adv Exp Med Biol. 2018:1085:65-66. doi: 10.1007/978-3-319-95046-4_14.

Authors

Stephen H Tsang^{1

2}, Tarun Sharma³

Affiliations

¹ Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
² Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.
³ Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA. ts3118@cumc.columbia.edu.

PMID: 30578487
DOI: 10.1007/978-3-319-95046-4_14

Abstract

Unlike rod monochromatism, which is an autosomal recessive disease that affects all three types of cones, blue cone monochromatism (BCM) is an X-linked disease that affects only L-cones and M-cones. The rods and S-cones are normal. The estimated prevalence is 1 in 100,00 individuals.

Keywords: Blue cone monochromatism; Color blindness; S-cone monochromatism; X-linked.

Publication types

Review

MeSH terms

Color Vision Defects / physiopathology*
Genetic Diseases, X-Linked / physiopathology*
Humans
Retinal Cone Photoreceptor Cells / pathology
Retinal Rod Photoreceptor Cells / pathology

Supplementary concepts

Blue cone monochromatism