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Biomedical subjects

D S Walton

Publications and source records attributed to D S Walton.

52 records · Page 3Linked to original sources

Ocular manifestations of group A Niemann-Pick disease.

Four infants with Group A Niemann-Pick disease had similar ocular abnormalities secondary to this systemic disease. Each child demonstrated corneal opacification, brown discoloration of the anterior lens capsule, and retinal opacification with a macular cherry-red spot. These abnormalities were seen in each child during the first year of life and appeared stable. Recognition of this combination of ocular defects facilitates early identification of patients with Group A infantile Niemann-Pick disease.

Cornea↗

Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies.

The most common abnormality detected by the screening of newborn infants for galactosemia is a deficiency of galactose-1-phosphate uridyl transferase due to the presence in one individual of allelic genes for the Duarte variant and for galactosemia. Clinical studies of ten untreated individuals with this genetic compound, including three adults, failed to reveal evidence of cataracts, liver disease, or mental subnormality, the major clinical complications associated with galactosemia. Galactose-1-phosphate was not detectable in umbilical cord blood from one infant. Galactose was not detectable in random blood specimens from any of the individuals and was present in only small amounts following ingestion of milk in one infant and a child. It would appear that this common gentic variation is usually, if not always, benign.

Adult↗

Optic nerve hypoplasia with good visual acuity and visual field defects: a study of children of diabetic mothers.

Seventeen children, born of severely diabetic mothers, exhibited segmental optic nerve hypoplasia with normal visual acuity and altitudinal or sector field defects corresponding to the hypoplastic areas of the disc. This is the first group of patients with optic nerve hypoplasia in which a possible cause has been identified. Optic nerve hypoplasia is neither a rare abnormality usually associated with serious central nervous system defects, nor is it always accompanied by decreased visual acuity.

Abducens Nerve↗

Leukemic ophthalmopathy in children.

Abnormalities of the eye were detected in 52 of 657 children (9%) suffering from acute leukemia. The treatment for leukemia was single agent chemotherapy administered sequentially. "Prophylactic" treatment of the central nervous system was not administered. Major manifestations of leukemic ophthalmopathy comprised retinal hemorrhage (in 19) and infiltration of the optic nerve, retina, iris or orbit (29). The ophthalmopathy was treated by topical dexamethasone and radiation therapy. Concurrent bone marrow relapse occurred in most patients. Twenty-seven of 29 patients whose cerebrospinal fluid was examined before or at the time of the onset of leukemic ophthalmopathy demonstrated meningeal leukemia. In contrast, this complication has not been observed in recent patients who received "prophylactic" treatment for meningeal leukemia. Leukemic invasion of the eye should receive appropriate recognition; the posterior pole should be included in the treatment of the central nervous system as a pharmacologic sanctuary.

Child↗

Congenital orbital teratoma: report of a case with visual preservation.

Congenital orbital teratoma is a rare, but benign cause of unilateral exophthalmos in infants, and therefore a worthwhile differential diagnosis to consider. Despite the grotesque and alarming external appearance of the eye, both it and visual function can be effectively preserved in certain instances with early intervention. A review of the literature accompanies the report of one such case of a successfully salvaged eye following removal of the teratoma. Clinical recommendations are included.

Child, Preschool↗