REFSUMS DISEASE - ELECTRON-MICROSCOPY OF AN IRIS BIOPSY

被引：3

作者：

DICK, AD

JAGGER, J

MCCARTNEY, ACE

机构：

[1] UNIV COLL HOSP LONDON,DEPT OPHTHALMOL,WC1 LONDON,ENGLAND

[2] INST OPHTHALMOL,LONDON WC1H 9QS,ENGLAND

来源：

BRITISH JOURNAL OF OPHTHALMOLOGY | 1990年 / 74卷 / 06期

关键词：

D O I：

10.1136/bjo.74.6.370

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Refsum's disease (phytanic acid storage disease) results in an accumulation of lipid as a result of an absence of mitochondrial hydroxylation of phytanic acid. We describe a previously unrecorded electron microscopic study of lipid deposition in the iris pigment epithelium of a patient with Refsum's disease, and lipid was present in other sites within the iris.

引用

页码：370 / 372

页数：3

共 10 条

[1]

DURAND JF, 1971, PATHOL EUR, V6, P172

[2]

FERDEAU H, 1969, J NEUROPATHOL EXP NE, V28, P278

[3] RETINAL FUNCTION IN RATS AND GUINEA-PIGS REARED ON DIETS LOW IN ESSENTIAL FATTY-ACIDS AND SUPPLEMENTED WITH LINOLEIC OR LINOLENIC ACIDS [J].

LEAT, WMF ;

CURTIS, R ;

MILLICHAMP, NJ ;

COX, RW .

ANNALS OF NUTRITION AND METABOLISM, 1986, 30 (03) :166-174

[4]

Levy I S, 1970, Trans Ophthalmol Soc U K, V90, P181

[5]

MCCARTNEY ACE, 1986, T OPHTHAL SOC UK, V105, P324

[6]

REFSUM S, 1945, NORD MED, V28, P2682

[7]

REFSUM S, 1946, ACTA PSYCHIAT NEUR S, V38, P303

[8]

Steinberg D., 1983, METABOLIC BASIS INHE, P731

[9] OCULAR PATHOLOGIC STUDY OF REFSUMS SYNDROME [J].

TOUSSAINT, D ;

DANIS, P .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 1971, 72 (02) :342-+

[10] FINE-STRUCTURE OF IRIS MELANOSOMIS IN MAN [J].

ZINN, KM ;

MOCKELPO.S ;

VILLANUEVA, V ;

FURMAN, M .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 1973, 76 (05) :721-729

← 1 →