Ocular colobomata

被引:157
作者
Onwochei, BC
Simon, JW
Bateman, JB
Couture, KC
Mir, E
机构
[1] Albany Med Coll, Dept Ophthalmol, Lions Eye Inst, Albany, NY 12208 USA
[2] St Clares Hosp, Dept Family Practice, Schenectady, NY USA
[3] Schenectady Family Hlth Serv, Dept Family Practice, Schenectady, NY USA
[4] Univ Colorado, Dept Ophthalmol, Denver, CO 80202 USA
关键词
embryogenesis; genetic disorders; microphthalmia; ocular coloboma; ocular colobomata;
D O I
10.1016/S0039-6257(00)00151-X
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
Ocular colobomata present diagnostic and therapeutic challenges in patients of all ages, but especially in young children. The "typical" coloboma, caused by defective closure of the fetal fissure, is located in the inferonasal quadrant, and it may affect any Dart of the globe traversed by the fissure from the iris to the optic nerve. Ocular colobomata are often associated with microphthalmia, and they may be idiopathic or associated with various syndromes. Types and severity of complications vary depending on the location and size of the colobomata. This article reviews the pathogeneses, categorization, genetic bases, differential diagnoses and management of ocular coloboma. (Surv Ophthalmol 45: 175-194, 2000. (C) 2000 Elsevier Science Inc. All rights reserved.).
引用
收藏
页码:175 / 194
页数:20
相关论文
共 281 条
[1]   3-1 MEIOTIC DISJUNCTION IN A MOTHER WITH A BALANCED TRANSLOCATION, 46,XX,T(5,14)(P15-Q13) RESULTING IN TERTIARY TRISOMY AND TERTIARY MONOSOMY OFFSPRING [J].
ABELIOVICH, D ;
YAGUPSKY, P ;
BASHAN, N .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1982, 12 (01) :83-89
[2]  
ALLDERDICE PW, 1969, AM J HUM GENET, V21, P499
[3]  
Amari F, 1994, Eur J Ophthalmol, V4, P181
[4]  
[Anonymous], ACTA PSYCHIAT NEUROL
[5]  
Antle C M, 1990, J Pediatr Ophthalmol Strabismus, V27, P310
[6]  
ARSTIKAITIS M, 1969, ARCH OPHTHALMOL-CHIC, V82, P480
[7]   MICROPHTHALMOS WITH BILATERAL COLOBOMATOUS ORBITAL CYST ACCOMPANIED BY POLYCYSTIC KIDNEY-DISEASE AND VACUOLIZATION OF MYELOID PROGENITOR CELLS [J].
BAKIR, M ;
SARIALIOGLU, F ;
BILGIC, S ;
AKHAN, O .
ACTA PAEDIATRICA, 1992, 81 (12) :1054-1057
[8]   Ocular malformations, moyamoya disease, and midline cranial defects: A distinct syndrome [J].
Bakri, SJ ;
Siker, D ;
Masaryk, T ;
Luciano, MG ;
Traboulsi, EI .
AMERICAN JOURNAL OF OPHTHALMOLOGY, 1999, 127 (03) :356-357
[9]   MLS, ALCARDI AND GOLTZ SYNDROMES - HOW MANY GENES INVOLVED [J].
BALLABIO, A .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 59 (01) :100-100
[10]  
Barber AN, 1955, EMBRYOLOGY HUMAN EYE, P50