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Related Experiment Video

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Cone-Enriched Cultures from the Retina of Chicken Embryos to Study Rod to Cone Cellular Interactions

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Blue Cone Monochromatism.

Stephen H Tsang^1,2, Tarun Sharma³

¹Jonas 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.

Advances in Experimental Medicine and Biology

|December 23, 2018

Summary

This summary is machine-generated.

Blue cone monochromatism (BCM) is a rare X-linked vision disorder affecting L- and M-cones, unlike rod monochromatism. This condition preserves rod and S-cone function, with an estimated prevalence of 1 in 100,000 individuals.

Keywords:

Blue cone monochromatism Color blindness S-cone monochromatism X-linked

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Area of Science:

Ophthalmology
Genetics
Vision Science

Background:

Blue cone monochromatism (BCM) is a rare X-linked inherited condition.
BCM affects the L-cones and M-cones, crucial for red-green color vision.
Unlike rod monochromatism, BCM does not affect rod cells or S-cones (blue cones).

Purpose of the Study:

To describe the genetic basis and clinical characteristics of Blue Cone Monochromatism.
To differentiate BCM from other forms of monochromatism.
To provide an estimated prevalence for BCM.

Main Methods:

Review of existing literature on X-linked color vision deficiencies.
Genetic analysis of patients with suspected BCM.
Ophthalmic examinations including visual acuity and color vision testing.

Main Results:

BCM is confirmed as an X-linked disorder impacting L- and M-cones.
Rod and S-cone function remain intact in individuals with BCM.
The prevalence of BCM is estimated at approximately 1 in 100,000 individuals.

Conclusions:

Blue Cone Monochromatism is a distinct genetic visual disorder with specific cone cell involvement.
Understanding BCM's characteristics is vital for diagnosis and potential future therapies.
The low prevalence highlights the importance of specialized diagnostic approaches.