The Retina in Type 5 Hyperlipoproteinemia

Kurz, George H.; Shakib, Manoucher; Sohmer, Kenette K.; Friedman, Alan H.

doi:10.1016/0002-9394(76)90661-9

Cited by 15 publications

(7 citation statements)

References 3 publications

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“…We had to take into account the following facts: 1. Women were affected as well as men; this was also found by Fredrickson et al (1967Fredrickson et al ( , 1972, Vinger & Sachs (1970), and Kurz et al (1976). Consequently, a sexlinked inheritance can be excluded.…”

Section: Discussionsupporting

confidence: 53%

“…, FranGois et al 1977. Moreover, if a type V hyperlipoproteinaemia is treated with a diet poor in carbohydrates and fats, and by clofibrate and heparine, it may show the biological pattern of type IV (Fredrickson et al 3972, Ursin et al 1972, Kurz et al 1976, Franqois et al 1977, Hoste et al 1977. Christensen & HGrder (1971) examined 26 families and found 77 cases of hyperlipoproteinaemia: 1 of type I, 42 of type 11, I 1 of type 111, 19 of type IV and 4 of type V. In nearly all families several different types were observed.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Genetic study of hyperlipoproteinaemia types IV and V

François¹,

Lentini²,

Hose³

et al. 1977

Clinical Genetics

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Section: Discussionsupporting

confidence: 53%

Section: Discussionmentioning

confidence: 99%

Genetic study of hyperlipoproteinaemia types IV and V

François¹,

Lentini²,

Hose³

et al. 1977

Clinical Genetics

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“…Infantile lipemia retinalis is a rare disease, as most reported cases were found in adults in association with hyperlipoproteinemia 7,8. Currently, there is no clear consensus for a standard treatment of infants presenting with sHTG.…”

Section: Discussionmentioning

confidence: 99%

Exceptionally elevated triglyceride in severe lipemia retinalis

Yin

Warman

Suh

et al. 2016

IMCRJ

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PurposeTo report a case of successful treatment for severe lipemia retinalis with extreme severe hypertriglyceridemia (sHTG).DesignObservational case report.ObservationsA 6-week-old infant with severe lipemia retinalis manifested diffuse creamy retinal vessels complicated with vulvar xanthomas. Extreme sHTG with 185-folds of the normal level was reported. Chromosome microarray and lipid gene sequencing confirmed a homozygous lipoprotein lipase gene coding mutation.ResultsUnder strict adherence to a high medium-chain triglycerides formula and discontinuation of breast milk, the lipemia retinalis and vulval lesions resolved along with a stable plasma lipid level throughout the follow-up period of 6 months.ConclusionStrict adherence to a low-fat diet without breast milk appears to be effective in treating infants with severe lipemia retinalis associated with exceptionally high triglycerides.

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“…Ophthalmo-histopathologische Untersuchungen bei Typ-V-Hyperlipoproteinämie zeigten bei einer ausgeprägten Lipaemia retinalis Lipidablagerungen v. a. in der äuûeren plexiformen Schicht der Retina sowie innerhalb der retinalen Gefäûwände. Die Basalmembran der Blutgefäûe stellte sich verdickt dar [4,7]. Solche Veränderungen könnten eine Verengung der Gefäûlumina verursachen.…”

Section: Diskussionunclassified