Role of the international agency for the prevention of blindness.
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Biomedical subjects
Publications and source records attributed to C Kupfer.
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Examination of six cases of iridocorneal endothelial (ICE) syndrome revealed that all the patients had subclinical abnormalities in the fellow eye. Of the six, four patients had iris transillumination, four patients had significantly decreased outflow facility but without elevation of intraocular pressure, and all patients had corneal endothelial changes as noted by specular microscopy. The asymmetric rather than unilateral involvement and the similar histopathology to posterior polymorphous dystrophy suggested that these two diseases may share a common pathogenesis. The occurrence of features of Rieger's syndrome and Axenfeld's anomaly in association with posterior polymorphous dystrophy suggested the hypothesis that all these diseases may be characterized by abnormalities of tissues derived from neural crest cells. A unifying hypothesis is presented to explain this group of diseases involving the endothelial cells lining the anterior chamber, namely corneal and trabecular meshwork endothelium, anterior iris stroma and iris melanophores.
The hypothesis proposed by Campbell goes a long way to clarify the loss of pigment from the posterior iris pigment epithelium in PDS. However, the present series of cases of either asymmetric PDS (cases 1 to 3) or early developing PDS (cases 5 to 7) suggest that other factors appear to play a role in addition to mechanical rubbing. These other factors await further identification.
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The randomized clinical trial has a minimum of four elements. These are: 1. The use of control patients who either receive no treatment, the conventional treatment, or a placebo. 2. The use of random assignment of treatment to be tested. 3. The avoidance of investigator bias by single or double masking procedures. 4. The development of a sound ethical basis for the conduct of the research. These elements are discussed and the principles illustrated by a brief discussion of the diabetic retinopathy study conducted by the National Eye Institute.
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A 57-year-old woman with metastatic breast carcinoma treated by surgery and high-dosage tamoxifen chemotherapy developed tamoxifen retinopathy characterized by white superficial refractile retinal lesions primarily in the paramacular area. At postmortem examination, the retinal lesions seen clinically were identified as being 3 to 10 microns in diameter in the macular area, and 30 to 35 microns in diameter in the paramacular area. The lesions were confined to the nerve fiber layer and inner plexiform layer and stained positive with stains for glycosaminoglycans. Electron microscopic examination revealed that the smaller lesions were intracellular and the larger lesions extracellular. The lesions were composed of randomly oriented branching electron dense 6-nm filaments accompanied by occasional electron dense coated vesicles measuring 60 to 70 nn in diameter. The lesions appeared to be occurring in axons and seemed to represent products of axonal degeneration.
Sixteen patients with osteogenesis imperfecta (OI) have undergone a thorough eye examination. These patients had statistically significantly lower ocular rigidity measurements than a group of normal volunteers matched on age, sex, and refractive error. In addition, the corneal diameter and length of the eyeball was smaller in OI patients than that in controls. Possible correlations of low ocular rigidity with biochemical changes in scleral collagen await further investigation.
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Abnormalities in neural crest cell migration may have a role in the pathogenesis of the congenital glaucomas, with or without changes in the gonioscopic appearance of the anterior chamber angle. Neural crest cells also contribute to the bones of the face, dental papilla, cartilage, bone, and meninges; this may explain the association of craniofacial, dental, and upper spinal malformations with some of the congenital glaucomas.
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The group of congenital and developmental anomalies of the anterior chamber associated with increased intraocular pressure has been difficult to interpret from an embryologic perspective which would take into account the ocular defects as well as associated systemic abnormalities. A new hypothesis is presented which suggests that the ocular and systemic defects can be explained by abnormalities in migration or terminal induction of neural-crest cells. These cells represent the initial population which differentiates into the diversity of cell types that appear to be involved in both the ocular and systemic manifestation of this group of anterior chamber anomalies.