Ectopia lentis et pupillae: the genetic aspects and differential diagnosis.
نویسندگان
چکیده
Two sib pairs and a fifth child are described with autosomal recessive ectopia lentis et pupillae. Patients with this disorder need regular ophthalmic review, but do not have the skeletal and metabolic complications associated with other syndromes with ectopia lentis.
منابع مشابه
Ectopia lentis et pupillae
The Ectopia lentis et pupillae is a rare genetic syndrome, congenital, autosomal recessive with variable expression, characterized by ectopia of the lens and the pupil, usually bilateral and symmetrical, but without systemic manifestations. The pathogenesis of this anomaly is still unknown, but there are theories that the change is mesodermal, neuroectodermal, combined or mechanical. This artic...
متن کاملEctopia lentis et pupillae syndrome in three generations.
In nine members from three generations and in a distant relative, at least three significant characteristics of the ectopia lentis et pupillae syndrome were established including ectopia lentis, ectopia pupillae, persistent pupillary membrane, iris transillumination, and poor pupillary dilatation. All patients developed bilateral cataract before the age of 40 years, and two patients presented w...
متن کاملA novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.
PURPOSE To examine the ocular malformations and identify the molecular genetic basis for autosomal recessive ectopia lentis et pupillae in five Norwegian families. METHODS Ten affected persons and 11 first-degree relatives of five Norwegian families underwent ophthalmic and general medical examination. Molecular genetic studies included homozygosity mapping with SNP markers, DNA sequencing, a...
متن کاملADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis.
PURPOSE ADAMTSL4 mutations cause autosomal recessive isolated ectopia lentis (IEL) and ectopia lentis et pupillae. Dominant FBN1 mutations cause IEL or syndromic ectopia lentis (Marfan syndrome and Weill-Marchesani syndrome). The authors sought to characterize recombinant ADAMTSL4 and the ocular distribution of ADAMTSL4 and to investigate whether ADAMTSL4 influences the biogenesis of fibrillin-...
متن کاملEctopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.
OBJECTIVE To investigate the genetic basis and molecular characteristics of the isolated form of ectopia lentis. METHODS We ascertained a consanguineous Pakistani family with multiple individuals with ectopia lentis. All affected as well as unaffected members with isolated ectopia lentis underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extrac...
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عنوان ژورنال:
- Journal of medical genetics
دوره 28 11 شماره
صفحات -
تاریخ انتشار 1991