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Related Experiment Video

Updated: Sep 8, 2025

Visualizing Visual Adaptation

Visualizing Visual Adaptation

Published on: April 24, 2017

Blue Cone Monochromatism.

Kristina J Hartung^1,2, Stephen H Tsang³, Tarun Sharma⁴

¹Department of Ophthalmology, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Advances in Experimental Medicine and Biology

|July 30, 2025

Summary

This summary is machine-generated.

Blue cone monochromatism (BCM) is a rare X-linked disorder affecting color vision and visual acuity. Diagnosis involves distinguishing it from achromatopsia using clinical features and genetic testing.

Keywords:

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

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Last Updated: Sep 8, 2025

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Area of Science:

Ophthalmology
Genetics
Medical Science

Background:

Blue cone monochromatism (BCM) is a rare X-linked recessive disorder.
It is characterized by absent L and M cone function with normal S cone and rod function.
Affecting approximately 1 in 100,000 individuals, males are predominantly impacted.

Purpose of the Study:

To describe the clinical presentation and diagnostic features of Blue cone monochromatism (BCM).
To differentiate BCM from similar conditions like rod monochromatism (achromatopsia).

Main Methods:

Clinical observation and patient history.
Electrophysiological testing.
Psychophysical testing, including Berson plates.

Main Results:

BCM patients exhibit impaired color vision (blue range only), poor visual acuity (20/80–20/200), photophobia, nystagmus, and myopia.
The condition is typically stationary, though progressive retinal atrophy can occur.
BCM is distinguished from achromatopsia by better visual acuity, preserved tritan discrimination, and myopia.

Conclusions:

Accurate diagnosis of BCM is crucial for patient management.
Distinguishing BCM from achromatopsia relies on a combination of clinical findings, electrophysiology, psychophysical tests, and family history.
Understanding these differences aids in appropriate genetic counseling and potential future therapeutic strategies.