Retinitis Pigmentosa, Acanthrocytosis, and Heredodegenerative Neuromuscular Disease

A- -lipoproteinaemia (Bassen-Kornzweig Syndrome): Report of a Case

“…Retinal changes have been observed in 6 of the 12 previously reported cases (Bassen and Kornzweig, 1950;Jampel and Falls, 1958;Kornzweig and Bassen, 1957;Druez, 1959;Friedman, Cohn, Zymaris, and Goldner, 1960;Mier, Schwartz, and Boshes, 1960) and electroretinography has been abnormal in one case in which the retinoscopy was normal (Lamy et al, 1961). The 5 patients without retinopathy were all under the age of 14 years at the time of reporting (Salt et al, 1960;Mabry et al, 1960;Wolff and Bauman, 1961;Schwartz et al, 1963;Ways et al, 1963).…”

“…However, in the family of the patient we are describing and in several other families reported serum 5-lipoprotein levels have been normal (Wolff and Bauman, 1961;Lamy et al, 1963;Ways et al, 1963;Schwartz et al, 1963). These investigations do not confirm the presence of biochemical abnormality in the presumed heterozygous state, but the familial occurrence (Kornzweig and Bassen, 1957) and frequency of parental consanguinity remain as evidence for the disease being due to an autosomal recessive gene. Salt et al also favoured Singer's view that the ocular and nervous disturbances were genetically determined, and speculated that a factor essential for the production of 5-lipoprotein was also essential for the normal structure and function of nerve cells.…”

“…Several years later they described the same triad (abnormal erythrocytes, retinitis pigmentosa, and neuropathy) in the patient's brother (Kornzweig and Bassen, 1957). The parents of these sibs were first cousins.…”

Bassen-Kornzweig syndrome. Present status.

“…4), and inability to read large print. The electroretinogram will show a complete absence of electrical response as shown by Jacobson (Kornzweig and Bassen, 1957). There are also signs of mental retardation, mild in most cases and more extreme in an occasional patient.…”

“…4. Peripheral fields at the age of 15 years, showing a complete ring scotoma in the right eye and a partial ring scotoma in the left eye (from Kornzweig and Bassen, 1957). unusual discovery in the Bassen-Kornzweig syndrome, much investigation was undertaken to determine the cause, and several interesting observations were made.…”