Lipemia retinalis

Lipemia retinalis and pancreatitis have been reported in a 39-year-old man with HIV infection associated with protease inhibitor therapy (13). He developed lipemia retinahs after switching to an antiretroviral regimen including ritonavir and saquinavir (together with zalci-tabine and delavirdine). He had previously been taking zidovudine, lamivudine, and indinavir. 

Although this disorder is not usually expressed in childhood, several affected preadolescents have been described. Clinical presentations in adult patients include eruptive xanthomas, lipemia retinalis, pancreatitis, and abnormal glucose tolerance with hyperinsulinism. Premature atherosclerotic complications are not as commonly seen as with FH. This heterogeneous syndrome appears to be inherited in an autosomal dominant mode, but its genetic basis is yet to be elucidated. 

In spite of differences in pathogenesis of the various forms of EHL it is possible to consider their clinical manifestations together since the majority of signs and symptoms seem to vary only in a quantitative manner between syndromes. This, as well as the frequency of asymptomatic cases of EHL, indicates that at least the manifestations of lipemia retinalis, xanthomatosis and probably hepatospleno-megaly and abdominal crises are the results of the lipid elevation rather than primary expressions of the underlying pathogenetic mechanisms. Other evidence for the non-specificity of eruptive xanthomas and lipemia retinalis is their occurrence in secondary hyperlipemias (e.g. diabetic ketoacidosis). 

This phenomenon was first observed in a case of diabetic acidosis by Heyl (1880) and quite certainly only reflects the degree of plasma turbidity resulting from increase in VLDLP and/or chylomicrons. The fundus in lipemia retinalis is characteristic and can only be imitated to some degree by leukemias. The retinal vessels appear flattened and show increased light reflexes arteries and veins are difficult to distinguish on a salmon colored background. Vision is usually not impaired, and the case of de Rosa (1952) with blindness of the left eye was due to other changes (atrophy of the left optic nerve with massive lipid deposits lateral to the optic disc.)... 

The finding of lipemia retinalis was mentioned in the first description of EHL by Burger and Grutz (1932) and appeared quite consistently in early reports of the syndrome (Opitz 1935, Holt and coworkers 1939, Goodman and coworkers 1940, Levy 1946, Bloomfield and Shenson 1947, Grossmann and Hitz 1948, Rohn and coworkers 1948, Thannhauser 1950, Bruton and Kanter 1951, Hoffman and Grayson 1952). In 122 cases of EHL where clinical descriptions were available to us, lipemia retinalis was documented in 18 cases. 

Dunphy (1949) observed in several cases of EHL a severe form of nonspecific keratitis (occasionally accompanying lipemia retinalis) with yellowish discoloration and opalescense of distinctly outlined corneal areas and proposed the term keratide interstitielle lipidique . Examination of his cases with the aid of a slit lamp showed small areas with fine granular radial streaks. Refractive properties suggested the presence of cholesterol crystals in these lesions. The cause of this condition is unknown. It is possible that transudation of lipemic lymph fluid into canals of the cornea is responsible. 

Goodman, M., H. Shuman, and S. Goodman Idiopathic lipemia with secondary xanthomatosis, hepatosplenomegaly, and lipemia retinalis. J. Pediat. 16, 698 (1940). 

Geossmann, E. E., and J. B. Hitz Lipemia retinalis associated with essential hyperlipemia. Arch. Ophthal. 40, 670 (1948). 

Lepard, C. W. Lipemia retinalis in the nondiabetic patient. Albrecht v. Graefes Arch. Ophthal. 32, 37 (1944). 

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