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Biomedical subjects

T A Weingeist

Publications and source records attributed to T A Weingeist.

12 recordsLinked to original sources
PubMed1992

Procollagen II gene mutation in Stickler syndrome.

Four affected members of a family with Stickler syndrome were found to have a single base-pair deletion resulting in a translational frameshift in exon 40 of the procollagen II (COL2A1) gene on chromosome 12. This mutation was not seen in any of five clinically unaffected family members or in any of 15 unrelated control patients. All affected members had distinctly abnormal vitreous syneresis and all had retinal perivascular pigmentation. Retinal detachments occurred in three of the four affected patients. Three of the four affected patients had peripheral cortical "wedge" cataracts, and the fourth had extensive nuclear sclerosis. Abnormalities of the soft palate were found in all four affected patients. All patients reported severe joint pains, and epiphyseal dysplasia was found radiographically in all patients.

Adolescent↗
PubMed1991

Long-term visual outcome in Terson syndrome.

The presentation and long-term visual outcome in 30 eyes with Terson syndrome is evaluated. In 25 of 30 eyes (83%), visual acuity of 20/50 or better was attained. This occurred in 12 of 16 eyes (75%) managed by observation alone and 12 of 14 eyes (86%) treated by pars plana vitrectomy. The most common long-term sequelae in all eyes studied was the formation of an epiretinal membrane. These occurred in 14 of 18 eyes (78%) followed for 3 or more years but accounted for significant visual loss in only 2 eyes. There was no difference in final visual outcome between those patients undergoing vitrectomy and those managed conservatively. However, visual recovery was more rapid in eyes undergoing vitrectomy despite the fact that vitrectomy was reserved for eyes with more dense vitreous hemorrhage.

Adolescent↗
PubMed1991

Ocular findings in Turcot syndrome (glioma-polyposis).

Turcot syndrome is a hereditary condition characterized by multiple, adenomatous gastrointestinal polyps associated with neuroepithelial tumors of the central nervous system. The authors examined a patient with Turcot syndrome who had multiple regions of congenital hypertrophy of the retinal pigment epithelium (CHRPE) with areas of surrounding hypopigmentation in the fundi of both eyes. Multiple, bilateral patches of CHRPE have been reported in patients with familial adenomatous polyposis and Gardner syndrome. This finding is thought to be a sensitive and specific clinical marker for these conditions and useful for predicting the presence and development of colorectal polyposis. Our findings provide further evidence that familial adenomatous polyposis, Gardner syndrome, and Turcot syndrome may be related conditions representing the variable phenotypic expression of a single, autosomal dominant genetic disorder. Children and young adults with multiple patches of CHRPE and a family history of adenomatous polyposis may be at increased risk for the development of central nervous system tumors as well as gastrointestinal polyps.

Adenomatous Polyposis Coli↗
PubMed1978

Traumatic corneal endothelial rings.

Nonpenetrating "blast injuries" to the eye in two patients resulted in multiple, small, corneal epithelial foreign bodies that were associated with characteristic ring-shaped opacities of the corneal endothelium. These endothelial lesions were clinically visible immediately after injury and became more pronounced during the next several hours. They disappeared within days and resulted in no permanent loss of visual acuity. This communication describes and illustrates the appearance of these endothelial lesions both clinically and in an animal model. Light and electron microscopic observations of an experimental model, with the use of monkey and rabbit eyes, revealed that the ring-shaped opacities resulted from swelling of the corneal endothelium, as well as accumulation of fibrin and leukocytes on the injured cells. Except for the epithelial impact site and the concussion injury of the endothelium, the cornea was uninvolved, and the stroma remained clear.

Adolescent↗
PubMed1977

Fleck corneal dystrophy.

Fourteen members of four families with fleck systrophy of the corneal stroma were examined and studied. Corneal and lens changes were noted in all patients. Corneal sensation was normal. Corneal biopsies were performed on two patients and a corneal button of a patient with fleck dystrophy and keratoconus was studied. Light and electron microscopy and histochemical studies showed this dystrophy to consist of abnormal keratocytes with variable numbers of membrane-limited intracytoplasmic vacuoles containing a granular to fibrogranular material that stains positively for mucopolysaccharide. This appears to be the first reported incidence of a dominantly inherited disorder of mucopolysaccharides affecting the eyes.

Adult↗
PubMed1977

The clinical spectrum of posterior polymorphous dystrophy.

We examined 61 affected members of eight families with an inherited corneal dystrophy. The corneal abnormalities varied greatly from one member of a family to another. Some patients had only a few isolated endothelial vesicles, while others in the same family had severe secondary stromal and epithelial edema. In some patients edema was present at birth or in early childhood; in others it developed later in life. The wide variation of corneal abnormalities suggests the possibility that several conditions previously described as separate disease entities, such as grouped vesicles, Schnyder's posterior herpes, posterior polymorphous dystrophy, and congenital hereditary endothelial dystrophy, are part of the clinical spectrum of expression of a single familial corneal dystrophy. Some affected family members also had ocular hypertension or open-angle glaucoma. Broad iridocorneal adhesions were present in some of the patients with glaucoma and in others with normal intraocular pressures. Other ocular abnormalities present in a few patients include pupillary ectropion, "glass membranes" on the anterior iris surface, and bands in Descemet's membrane. The transmission in most of the families was autosomal dominant. In two families it appeared to be autosomal recessive.

Adolescent↗
PubMed1977

False-positive results with the radioactive phosphorus test.

A chorioretinal granuloma that contained acid-fast bacilli and a choriodal nevus that consisted of benign nevus cells yielded false-positive radioactive phosphorus tests. The beta emission exceeded that of the control areas by more than 100% in each case. The granuloma had infiltrated the sclera, permitting inflammatory tissue to be in closer proximity to the counting probe than was the normal choroid. The reason for the increased metabolic activity of the nevus cells remains unexplained.

Adult↗
PubMed1976

"Twin peaks" papilledema: the appearance of papilledema with optic tract atrophy.

A woman with a right middle fossa meningioma causing right optic tract atrophy and papilledema had distinctive funduscopic changes. The ipsilateral eye showed temporal disc pallor and nasal edema. The contralateral disc showed edema of the upper and lower poles which was separated by a horizontal band of optic atrophy. The fluorescein angiographic changes clearly illustrate this pattern. Apart from its theoretical interest this appearance of papilledema and atrophy provides definite localizing information.

Adult↗
PubMedDate not supplied

Ocular and orbital manifestations of neurofibromatosis.

The ocular and systemic manifestations of von Recklinghausen's neurofibromatosis are reviewed. A case is presented illustrating widespread involvement and the typical histopathologic changes of the eye and the ocular adnexa. The ophthalmologist should be aware of broad scope of this disorder so that a complete evaluation of the patient can be made.

Adolescent↗
PubMedDate not supplied

Iridocorneal adhesions in posterior polymorphous dystrophy.

The variability of clinical expression in posterior polymorphous dystrophy is illustrated with emphasis on the occurrence of iridocorneal adhesions. These are believed to be synechiae and not Rieger's anomaly. The occurrence of glass-membrane-like material extending onto the iris from the cornea, causing synechiae and pupillary ectropion, is documented.

Adult↗