منابع مشابه
Anophthalmia and microphthalmia
Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem examination and genetic studies suggest that these conditions represent a phe...
متن کاملMicrophthalmia and the Visual Pathways
1866 to July, 1867.-Surgeon-General Sir 'William Guyer Hunter, M.D., F.R.C.S.E. July, 1867 to January, 1872.-Major J. H. Sylvester, M.R.C.S., F.G.C. January 28, 1872 to May 31, 1895.-Brigade Surgeon Lt.-Col. George Archibald Maconachie, M.D., C.M. (Aber.). June 1, 1895 to April 19, 1907.-Lt.-Col. H. Herbert, I.M.S. April 20, 1907 to February 28, 1914.-Lt.-Col. P. P. IKilkelly, M.B., I.M.S. Marc...
متن کاملAnalysis of eye lens-specific genes in congenital hereditary cataracts and microphthalmia of the miniature schnauzer dog.
The congenital hereditary cataracts and microphthalmia in the miniature schnauzer dog are inherited by an autosomal recessive mode. To understand the genetic basis of these diseases, the authors purified and analyzed leukocyte deoxyribonucleic acid (DNA) from affected and normal animals using a candidate gene approach. Because the genes that encode the lens-specific proteins, specifically, alph...
متن کاملVSX2 mutations in autosomal recessive microphthalmia
PURPOSE To further explore the spectrum of mutations in the Visual System Homeobox 2 (VSX2/CHX10) gene previously found to be associated with autosomal recessive microphthalmia. METHODS We screened 95 probands with syndromic or isolated developmental ocular conditions (including 55 with anophthalmia/microphthalmia) for mutations in VSX2. RESULTS Homozygous mutations in VSX2 were identified ...
متن کاملA case of Lenz microphthalmia syndrome.
Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features of the syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations. Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dila...
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ژورنال
عنوان ژورنال: BMJ
سال: 1922
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.1.3197.558