LEBERS CONGENITAL AMAUROSIS - A NEW SYNDROME WITH A CARDIOMYOPATHY

被引：20

作者：

RUSSELLEGGITT, IM

TAYLOR, DSI

CLAYTON, PT

GARNER, A

KRISS, A

TAYLOR, JFN

机构：

[1] HOSP SICK CHILDREN,DEPT OPHTHALMOL,GREAT ORMOND ST,LONDON WC1N 3JH,ENGLAND

[2] UNIV LONDON,INST CHILD HLTH,LONDON,ENGLAND

[3] UNIV LONDON,INST OPHTHALMOL,LONDON,ENGLAND

来源：

BRITISH JOURNAL OF OPHTHALMOLOGY | 1989年 / 73卷 / 04期

关键词：

D O I：

10.1136/bjo.73.4.250

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

引用

页码：250 / 254

页数：5

共 27 条

[1]

ALSTROM CH, 1957, HEREDITAS, V43, P1

[2]

DEBEKAN A, 1966, ARCH NEUROL-CHICAGO, V14, P294

[3]

DEKABAN AS, 1973, DEV MED CHILD NEUROL, V14, P436

[4] CONGENITAL AMAUROSIS OF RETINAL ORIGIN (LEBER) [J].

EDWARDS, WC ;

PRICE, WD ;

MACDONALD, R .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 1971, 72 (04) :724-+

[5] MITOCHONDRIAL CYTOPATHY - A MULTISYSTEM DISORDER WITH RAGGED RED FIBERS ON MUSCLE BIOPSY [J].

EGGER, J ;

LAKE, BD ;

WILSON, J .

ARCHIVES OF DISEASE IN CHILDHOOD, 1981, 56 (10) :741-752

[6] PEROXISOMAL DYSFUNCTION IN A BOY WITH NEUROLOGIC SYMPTOMS AND AMAUROSIS (LEBER DISEASE) - CLINICAL AND BIOCHEMICAL FINDINGS SIMILAR TO THOSE OBSERVED IN ZELLWEGER SYNDROME [J].

EK, J ;

KASE, BF ;

REITH, A ;

BJORKHEM, I ;

PEDERSEN, JI .

JOURNAL OF PEDIATRICS, 1986, 108 (01) :19-24

[7] LEBER CONGENITAL AMAUROSIS ASSOCIATED WITH FAMILIAL JUVENILE NEPHRONOPHTHISIS AND CONE-SHAPED EPIPHYSES OF THE HANDS (THE SALDINO-MAINZER SYNDROME) [J].

ELLIS, DS ;

HECKENLIVELY, JR ;

MARTIN, CL ;

LACHMAN, RS ;

SAKATI, NA ;

RIMOIN, DL .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 1984, 97 (02) :233-239

[8] DISK EDEMA IN CONGENITAL AMAUROSIS OF LEBER [J].

FLYNN, JT ;

CULLEN, RF .

BRITISH JOURNAL OF OPHTHALMOLOGY, 1975, 59 (09) :497-502

[9]

FRANCESCHETTI A, 1954, Confin Neurol, V14, P184

[10]

Francois J, 1968, Int Ophthalmol Clin, V8, P929

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