Retinohepatoendocrinologic Syndrome

Froyshov Larsen et al. (1978) described a new syndrome in 6 females in 2 sibships with a high degree of consanguinity and a male in another family. The syndrome consisted of total colorblindness from progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, 'maturity-onset diabetes of the young', repeated abortions or infertility). The fundi showed attenuated retinal vessels, disc pallor, and a generalized atrophic appearance without pigmentation. Photopic function was lost; scotopic function was well preserved (Hansen et al., 1978). Creatine phosphokinase was elevated in the blood of all patients (Berg et al., 1978).