نتایج جستجو برای: ocular coloboma
تعداد نتایج: 56254 فیلتر نتایج به سال:
To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.
A female baby 12 days old was brought to the out-patients department of Hamidia Hospital, Bhopal (M.P.), the parents complaining that the child was born with a white opacity in the right eye. She was the third child, the other two being alive and healthy with no congenital defects. The mother gave no history of any intercurrent illness during pregnancy. The child was full-term and the delivery ...
We describe a 5 year old boy with a de novo t(10;13) translocation and optic nerve coloboma-renal disease (ONCR). On the basis of GTG banding analysis of prometaphase chromosomes, the patient's karyotype was interpreted as either 46,XY,t(10;13)(q24.3;q12.3) or t(10;13) (q25.2;q14.1). Fluorescence in situ hybridisation (FISH) studies using a YAC clone containing the PAX2 gene and YAC clones adjo...
Optic disc pit and optic nerve coloboma are examples of congenital optic disc abnormalities. Although optic nerve coloboma can be inherited in an autosomal dominant fashion, no conclusive link has been found in the case of optic disc pit as an autosomal dominant disease. We describe two cases: a daughter with an optic disc pit complicated by maculopathy and her mother with a congenitally abnorm...
PURPOSE To screen the paired box gene 6 (PAX6) gene in irido-fundal coloboma. METHODS The entire coding region of PAX6 including intron-exon boundaries was amplified from cases (n=30) and controls (n=30). All sequences were analyzed against the ensemble sequence (ENSG00000007372) for PAX6. RESULTS DNA sequence analysis of patients and controls revealed a total of three nucleotide changes (g...
A lens coloboma is not a true coloboma; it is just a zonular absence that causes a defect in the lens equator and hence a more spherical lens. It can be isolated or in association with iris, choroid or retinal colobomas. Typically the defect is present at the site of the embryonic fissure, but it can be present elsewhere. This congenital defect can cause amblyopia, especially when it is associa...
birth of the son whose case is described below. Dimness of sight then came on, and gradually progressed to complete blindness without any redness, pain or lachrymation. An examination of the eyes gave the following results (28th April 1897) :? Right eye: The iris is divided completely into two portions (Fig. 1) by two large broad colobomata, one of which extends downwards and outwards, the othe...
Recently, large-scale benign copy-number variations (CNVs)--encompassing over 12% of the genome and containing genes considered to be dosage tolerant for human development--were uncovered in the human population. Here we present a family with a novel autosomal-dominantly inherited syndrome characterized by microtia, eye coloboma, and imperforation of the nasolacrimal duct. This phenotype is lin...
An eye that had the clinical appearance of a tumour of the nerve head was found on histological examination to have a congenitally large scleral canal with secondary buckling of the overlying retina.
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