Retinohepatoendocrinologic syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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]
References
References
Looking for the patient version?
© 2026 MyEClinic – IFTM Institut für Telematik in der Medizin GmbH