corneal opacity/triglyceride

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Fish eye disease: a new familial condition with massive corneal opacities and dyslipoproteinaemia.

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Fish eye disease (FED) is characterized by severe corneal opacities, causing impaired vision, and dyslipoproteinaemia: hypertriglyceridaemia, raised levels of very low density lipoproteins (VLDL), triglyceride enrichment of low density lipoproteins (LDL) and reduction of high density lipoproteins

Fish-eye disease. A new familial condition with massive corneal opacities and dyslipoproteinaemia.

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A man and his three daughters had massive corneal opacities called in their home village "fish-eye disease" because of the resemblance of the eyes to those of boiled fish. The two living daughters had the same dyslipoproteinaemia, characterised by normal serum cholesterol but raised serum

Oval corneal opacities in beagles. III. Histochemical demonstration of stromal lipids without hyperlipidemia.

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We found oral stromal avascular corneal opacities in 128 eyes of 75 beagles from 497 studied. There were three morphologic types that progressed in severity with time; nebular, racetrack, and white arc. Histochemical study of the earliest morphologic type (nebular) revealed neutral fats,

Marked hyper-HDL2-cholesterolemia associated with premature corneal opacity. A case report.

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We report here a peculiar case with premature corneal opacity and extremely high levels of HDL cholesterol in serum. The patient is a 54-year-old man who was first noticed to have marked corneal opacities at age 19. His serum HDL cholesterol level was elevated to the level of 135-160 mg/dl, while

A kindred with fish eye disease, corneal opacities, marked high-density lipoprotein deficiency, and statin therapy.

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A kindred affected with fish eye disease (FED) from Oklahoma is reported. Two probands with corneal opacification had mean levels of high-density lipoprotein (HDL) cholesterol (C), apolipoprotein (apo) A-I, and apoA-I in very large alpha-1 HDL particles that were 9%, 17%, and 5% of normal, whereas

GeneReviews®

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Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein (HDL) in the circulation resulting in tissue accumulation of cholesteryl esters throughout the body, particularly in the reticuloendothelial system. The major clinical signs of Tangier disease

Short-term influence of cataract surgery on circadian biological rhythm and related health outcomes (CLOCK-IOL trial): study protocol for a randomized controlled trial.

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BACKGROUND Light information is the most important cue of circadian rhythm which synchronizes biological rhythm with external environment. Circadian misalignment of biological rhythm and external environment is associated with increased risk of depression, insomnia, obesity, diabetes, cardiovascular

Posterior intracorneal opacities in patients with HIV infection.

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OBJECTIVE To describe a keratopathy in patients with the human immunodeficiency virus (HIV) infection. METHODS Retrospective review of ophthalmic and medical records, including laboratory evaluations, of seven patients with HIV infection and posterior intracorneal opacities. RESULTS Each patient had

Plasma lipid transfer in fish-eye disease.

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Fish-eye disease is a familial condition characterized by corneal opacities and dyslipoproteinaemia with, i.a., pronounced enrichment of plasma low density lipoprotein (LDL) with triglycerides. Cholesterol ester and triglyceride transferase activities in lipoprotein-free plasma have been measured in

A new case of apoA-I deficiency showing codon 8 nonsense mutation of the apoA-I gene without evidence of coronary heart disease.

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We report a 39-year-old Japanese man with HDL and apoA-I deficiency as well as data from members of his family. Corneal opacity and a stomatocyte were found but not tonsillar hypertrophy, xanthomas, or splenomegaly. His serum HDL cholesterol, apoA-I, apoA-II, and LDL cholesterol levels were t mg/dL,

Familial lecithin:cholesterol acyltransferase deficiency. Report of a fourth family from northwestern Norway.

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The tenth Norwegian patient with familial LCAT deficiency is reported. Her family lives in the same area as the three previously reported Norwegian families. The patient is a 26-year-old female with typical findings of the disease--proteinuria and corneal opacities. Total cholesterol was normal, but

Characterization of low-density lipoproteins from patients with recessive X-linked ichthyosis.

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We investigated lipoprotein metabolism in 14 patients with recessive X-linked ichthyosis (RXLI), a metabolic disease characterized by scaly skin, corneal opacity and steroid sulfatase deficiency. Plasma total cholesterol (TC) levels ranged from normal to slightly low (mean +/- SD: 156 +/- 28 mg/dl).

[Heart without HDL.Tangier disease].

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A 37-year-old man was referred to our lipid clinic because of profound plasma lipid alteration. He presented large and orange tonsils, hepatosplenomegaly. No corneal opacities or other ocular abnormalities as well as no nervous system abnormalities were evident. Haematologic alterations included

Familial plasma lecithin: cholesterol acyltransferase deficiency.

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A WOMAN WITH FAMILIAL PLASMA LECITHIN: cholesterol acyltransferase (L.C.A.T.) deficiency showed, like the other reported cases, obvious corneal opacity, proteinuria, and moderate anaemia with a slight haemolytic component. In the plasma the concentrations of free cholesterol, triglycerides, and

Targeted disruption of the mouse lecithin:cholesterol acyltransferase (LCAT) gene. Generation of a new animal model for human LCAT deficiency.

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We have established a mouse model for human LCAT deficiency by performing targeted disruption of the LCAT gene in mouse embryonic stem cells. Homozygous LCAT-deficient mice were healthy at birth and fertile. Compared with age-matched wild-type littermates, the LCAT activity in heterozygous and

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