Fish-Eye Disease a New Familial Condition With Massive Corneal Opacities and Dyslipoproteinæmia

Carlson, L. A.; Philipson, Bo

doi:10.1016/s0140-6736(79)92621-7

Cited by 135 publications

(89 citation statements)

References 9 publications

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“…95 She had decreased visual acuity. An electrocardiogram showed mild ST segment depression (anterior leads) and an x-ray showed no aortic calcification.…”

Section: Fish-eye Diseasementioning

confidence: 99%

“…Two Swedish kindreds have been reported 94 with HDL deficiency and severe corneal opacification causing visual impairment (Figure 8). The index case for the first kindred was a 68-year-old white woman who had had corneal cloudiness since her teens, resulting in gradual bilateral visual impairment.…”

Section: Fish-eye Diseasementioning

confidence: 99%

“…It will focus on genetic disease states characterized by HDL cholesterol levels below the 10th percentile 81 in the absence of severe hypertriglyceridemia 4 ' K or the elevated free total cholesterol ratio in plasma as observed in LCAT deficiency. 8384 Disease entities falling within this category include the familial apolipoprotein A-l and C-lll deficiency states, 8586 Tangier disease, 8788 HDL deficiency with planar xanthomas, 89 ' x apo A-IM^, 9 1 " 9 3 fish-eye disease, 94 ' M familial hypoalphalipoproteinemia, 96 " 100 apo A -l M a r t J 0 1 a P° A -' G *^1 0 1 a n d a P° A" 1 ,-1-3-' 02 These^isor-ders have arbitrarily been grouped starting with the lowest plasma apo A-l values and moving to the highest concentrations. The clinical features, plasma lipoprotein values, and reported apolipoprotein concentrations are summarized in Tables 3-5.…”

mentioning

confidence: 99%

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Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency.

Schaefer¹

1984

Arteriosclerosis

161

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P lasma high density lipoproteins (HDL, density = 1.063 -1.21 g/ml) mostly have alpha mobility on lipoprotein electrophoresis, and are composed (weight %) of approximately 50% protein, 25% phospholipid, 20% cholesterol (mainly esterified), and triglyceride. 1 " 1 Fluctuations in HDL levels have been associated largely with alterations in HDL (d = 1.063-1.125 g/ml). 5 Cholesterol is the HDL constituent commonly measured (following precipitation of other lipoproteins), and decreased plasma HDL cholesterol concentrations have been associated with premature coronary artery disease (CAD).*" 11 The normal values for this parameter are given in Table 1.

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“…95 She had decreased visual acuity. An electrocardiogram showed mild ST segment depression (anterior leads) and an x-ray showed no aortic calcification.…”

Section: Fish-eye Diseasementioning

confidence: 99%

Section: Fish-eye Diseasementioning

confidence: 99%

mentioning

confidence: 99%

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Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency.

Schaefer¹

1984

Arteriosclerosis

161

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“…3 Two types of inherited LCAT deficiency are known: familial LCAT deficiency (FLD) and fish-eye disease. 4,5 Both are autosomal recessive diseases caused by mutation of the LCAT gene and manifest as corneal opacity and low plasma HDL levels. 6 In FLD, plasma LCAT is either absent or completely lacks catalytic activity, whereas in fish-eye disease, the mutant LCAT exerts partial LCAT activity (i.e., it fails to exert activity on the HDL lipids, but esterifies cholesterol bound to apoB-containing lipoproteins).…”

mentioning

confidence: 99%

Nephrotic Syndrome Caused by Immune-Mediated Acquired LCAT Deficiency

Takahashi

Hiromura²,

Tsukida³

et al. 2013

Journal of the American Society of Nephrology

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Lecithin-cholesterol acyltransferase (LCAT) is an enzyme involved in maintaining cholesterol homeostasis. In familial LCAT deficiency (FLD), abnormal lipid deposition causes renal injury and nephrotic syndrome, frequently progressing to ESRD. Here, we describe a 63-year-old Japanese woman with no family history of renal disease who presented with nephrotic syndrome. The laboratory data revealed an extremely low level of serum HDL and undetectable serum LCAT activity. Renal biopsy showed glomerular lipid deposition with prominent accumulation of foam cells, similar to the histologic findings of FLD. In addition, she had subepithelial electron-dense deposits compatible with membranous nephropathy, which are not typical of FLD. A mixing test and coimmunoprecipitation study demonstrated the presence of an inhibitory anti-LCAT antibody in the patient's serum. Immunohistochemistry and immunofluorescence detected LCAT along parts of the glomerular capillary walls, suggesting that LCAT was an antigen responsible for the membranous nephropathy. Treatment with steroids resulted in complete remission of the nephrotic syndrome, normalization of serum LCAT activity and HDL level, and disappearance of foam cell accumulation in renal tissue. In summary, inhibitory anti-LCAT antibody can lead to glomerular lesions similar to those observed in FLD.

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“…Several disorders that affect lipoprotein metabolism are associated with HDLdeficiency and corneal opacification, including Tangier disease (16), LCAT deficiency (4, 17), fish eye disease (17,18), apo A-I, C-III deficiency (19), apo C-III, A-I, A-IV deficiency (20), fish eye-like dyslipoproteinemia (21), and specific apo A-I variants (22,23). Although the degree of corneal opacity ranges from mild cloudiness in Tangier disease to severe opacification in fish eye disease, it does not correlate with the degree of reduction of HDL.Despite the marked reduction in HDL,many of these conditions are not associated with premature atherosclerosis.…”

Section: Discussionmentioning

confidence: 99%

Japanese Family with a Deficiency of Lecithin: Cholesterol Acyltransferase (LCAT).

et al. 1994

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Wepresent findings in the ninth known Japanese family with lecithin : cholesterol acyltransferase (LCAT) deficiency. A 54-year-old man (proband) and his 58-year-old brother presented with corneal opacity. Both subjects showed a marked decrease in serum high density lipoprotein (HDL)-cholesterol and in the cholesteryl ester ratio. Although apo A-I and A-II were low, apo E tended to be high. Serum LCATactivity and mass were not detectable. Urinary examination showed microhematuria or proteinuria. Renal function was normal and no anemia was demonstrated, but blood smears showed poikilocytosis with target cells. The serum LCATactivity of the proband's three sons, obligate heterozygotes of LCATdeficiency, was about one-half the normal level, and HDL-cholesterol and apo A-I levels were low normal. (Internal Medicine 33: 677-682, 1994)

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Fish-Eye Disease a New Familial Condition With Massive Corneal Opacities and Dyslipoproteinæmia

Cited by 135 publications

References 9 publications

Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency.

Clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency.

Nephrotic Syndrome Caused by Immune-Mediated Acquired LCAT Deficiency

Japanese Family with a Deficiency of Lecithin: Cholesterol Acyltransferase (LCAT).

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