A member asked:

3 weeks boy. white-blond hair. pupils seem to be black, but has greyish ring in iris. fluorescent light reflects off eyes. has brown freckle. albinism?

A doctor has provided 1 answer
Dr. Johanna Fricke answered

Specializes in Pediatrics - Developmental and Behavioral

Oculocutaneous: Albinism is a group of 4 conditions, each caused by a specific gene mutation inherited in an autosomal recessive pattern. When both parents carry the gene mutation, each of their children has a 25% chance of having oca. See his pediatrician ; a pediatric ophthalmologist for diagnosis ; referral to a geneticist if he has it. Lack of melanin in the retina causes vision problems, so you need to know.

Answered 1/4/2020

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