Pattern dystrophies of the retinal pigment epithelium

被引:0
作者
Daniele, S
Carbonara, A
Daniele, C
Restagno, G
Orcidi, F
机构
[1] UNIV PERUGIA,SCH MED,DEPT OPHTHALMOL,I-06100 PERUGIA,ITALY
[2] UNIV TURIN,SCH MED,DEPT MED GENET,CNR,CII,CIOS,TURIN,ITALY
来源
ACTA OPHTHALMOLOGICA SCANDINAVICA | 1996年 / 74卷 / 01期
关键词
autosomal dominant inheritance; fluorescein angiography; genetics; lipofuscin pattern dystrophy; retina; retinal pigment epithelium;
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
Pattern dystrophies of the retinal pigment epithelium are infrequent fundus abnormalities arranged in various patterns of dots, lines and branches. The basic lesion appears to be yellow deposits of abnormal lipofuscin accumulated within degenerated retinal pigment epithelium cells. Examinations were carried out on two families who had developed different patterned alterations in the retinal pigment epithelium. The proband of family 1 had diffuse changes associated with equatorial folds. One sister had a macular alteration. A daughter was normal; a son had bilateral atrophy of the temporal retinal pigment epithelium. The proband of family 2 had bilateral, symmetrical retinal pigment epithelium lesions that simulated fundus flavimaculatus. His first daughter had a central lesion in her right eye. The second daughter, a peripapillary crescent of hyperpigmentation in her right eye, and circumpapillary chorioretinal atrophy associated with foveolar abnormalities in the left. This report provides further evidence that variable types of pattern dystrophy can occur within a single family pedigree and support the current opinion that all forms of pattern dystrophies are variants of a single pathogenetic mechanism.
引用
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页码:51 / 55
页数:5
相关论文
共 36 条
[1]  
Ayazi S, 1981, Retina, V1, P287, DOI 10.1097/00006982-198101040-00004
[2]  
BIUFFRE G, 1986, BR J OPHTHALMOL, V70, P526
[3]  
Burgess D, 1981, Retina, V1, P151
[4]  
CIBIS GW, 1980, ARCH OPHTHALMOL-CHIC, V98, P1785
[5]   PATTERNED MACULAR DYSTROPHY WITH YELLOW PLAQUES AND ATROPHIC CHANGES [J].
CORTIN, P ;
ARCHER, D ;
MAUMENEE, IH ;
FEIOCK, K ;
SPEROS, P .
BRITISH JOURNAL OF OPHTHALMOLOGY, 1980, 64 (02) :127-134
[6]   PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA ASSOCIATED WITH RETINAL-PIGMENT EPITHELIOPATHY [J].
DANIELE, S ;
CIANCHETTI, C ;
CAO, A .
AMERICAN JOURNAL OF OPHTHALMOLOGY, 1975, 80 (04) :585-590
[7]   PIGMENT EPITHELIAL PATTERN DYSTROPHY - 4 DIFFERENT MANIFESTATIONS IN A FAMILY [J].
DEJONG, PTVM ;
DELLEMAN, JW .
ARCHIVES OF OPHTHALMOLOGY, 1982, 100 (09) :1416-1421
[8]   RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM - DYSTROPHIA RETICULARIS LAMINAE PIGMENTOSA RETINAE OF SJOGREN,H [J].
DEUTMAN, AF ;
RUMKE, AML .
ARCHIVES OF OPHTHALMOLOGY, 1969, 82 (01) :4-&
[9]  
DEUTMAN AF, 1970, ARCH OPHTHALMOL-CHIC, V83, P558
[10]  
FERREL RE, 1983, AM J HUM GENET, V38, P78