Blue Cone Monochromacy (BCM), is a rare retinal disease apparent from birth. It is often misdiagnosed, or not diagnosed for many years, perhaps decades, of the patients’ life. Our purpose is to raise awareness of the condition in the hope that it supports early diagnosis.
Blue Cone Monochromacy is a rare genetic X-linked retinal disorder. Commonly affected males show symptoms since soon after birth, while females carriers only rarely show some of the symptoms in a mild form. BCM is a stable disease, affecting an individual for his whole life.
So if you see a 6 month old boy with nystagmus and the parents speak about another male in their family (on the mother’s side) with similar eye problems, please consider a diagnosis of BCM.
For confirmatory diagnosis, please conduct genetic testing and participate in the research supported by BCM Families Foundation at:
Another laboratory that offers the BCM DNA test is:
Casey Eye Institute Molecular Diagnostic Laboratory Oregon Health & Science University
Contact:Director: John (Pei-Wen) Chiang, PhD,
BCM Families Foundation is an international non-profit organization, created in USA by families affected by BCM. Today more than 220 people worldwide are in contact with us.
We help our families with diagnosis and DNA test, and we update patients about new therapies, as for example gene therapy. BCM Families Foundation is recognized as a non-profit organization by the USA Internal Revenue Service. Tax Identification Number 47-132773.