AUTOSOMAL RECESSIVE ECTOPIA LENTIS IN 2 ARAB FAMILY PEDIGREES

被引：18

作者：

ALSALEM, M

机构：

[1] Ophthalmology Department, Faculty of Medicine, Jordan University of Science and Technology

来源：

OPHTHALMIC PAEDIATRICS AND GENETICS | 1990年 / 11卷 / 02期

关键词：

Autosomal recessive; Hereditary subluxation; Isolated ectopia lentis;

D O I：

10.3109/13816819009012957

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Nineteen patients with bilateral ectopia lentis and no other ocular abnormalities in two Arab families are described. The two family pedigrees demonstrate an autosomal recessive inheritance in contrast to the majority of reported family pedigrees with this condition which show dominant inheritance. The early onset of the condition, its natural course and its consequences on visual function are described. © 1990 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.

引用

页码：123 / 127

页数：5

共 16 条

[1]

Duke-Elder S., System of Ophthalmology, Congenital Deformities, 3, pp. 710-715, (1964)

[2]

Falls H.F., Cotterman C.W., Genetic studies on ectopia lentis. A pedigree of simple ectopia of the lens, Arch Ophthalmol, 30, pp. 610-620, (1943)

[3]

Jaureguy B.M., Hall J.G., Isolated congenital ectopia lentis with autosomal dominant inheritance, Clin Genet, 15, pp. 97-109, (1979)

[4]

McKusick V.A., Heritable Disorders of Connective Tissue, 4th edn, (1972)

[5]

Nelson L.B., Maumenee I.H., Ectopia Lentis, Surv Ophthalmol, 27, pp. 143-160, (1982)

[6]

McKusick V.A., Primordial dwarfism and ectopia lentis, Am J Hum Genet, 7, pp. 189-198, (1955)

[7]

Ruiz C., Rivas F., Villar-Calvo V.M., Serrano-Lucas J.I., Cantu J.I., Familial simple ectopia lentis. A probable autosomal recessive form, Ophthalm Paed Genet (Amsterdam), 7, pp. 81-84, (1986)

[8]

Cross H.E., Jensen A.D., Ocular manifestation in the Marfan syndrome and homocystinuria, Am J Ophthalmol, 75, pp. 405-420, (1973)

[9]

Jensen A.D., Cross H.E., Paton D., Ocular complications in the Weill-Marchesani syndrome, Am J Ophthalmol, 77, pp. 261-268, (1974)

[10]

Al-Awadi S.A., Moussa M.A., Naguib K.K., Farag T.I., Et al., Consanguinity among the Kuwaiti population, Clin Genet, 27, pp. 483-486, (1985)

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