Retinohepatoendocrinologic syndrome: Difference between revisions
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(Created page with "{{SI}} {{CMG}} ==Overview== This syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction ...") |
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Latest revision as of 02:06, 24 July 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
This syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.[1]