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Biomedical subjects

G Bresnick

Publications and source records attributed to G Bresnick.

7 recordsLinked to original sources

Optic atrophy, hearing loss, and peripheral neuropathy.

Here we report on two families with a previously apparently undescribed, autosomal dominant disorder resulting in optic atrophy and subsequent development of hearing loss and peripheral neuropathy. This disorder differs from previous syndromes resulting in this triad of effects both in the severity and early onset of the optic atrophy and in its mode of transmission. Review of published cases of optic atrophy + hearing loss + peripheral neuropathy suggests that there are at least three such specific disorders; classification of these published cases by first-appearing symptom also results in a clean division by most-likely inheritance.

Adult↗

An inherited central retinal pigment epithelial dystrophy.

This report describes three generations of one family in which a mother and three of her children were affected by an unusual bilateral symmetrical atrophy of the retinal pigment epithelium in the macular area. All members of the family underwent complete eye examinations, stereoscopic color fundus photography and fluorescein angiography. The mother and four of her children underwent Goldmann visual fields, electroretinography, electro-oculography, Farnsworth-Munsell 100-Hue test, 24-hour quantitative urine analysis for amino acids, serum lipid profile, plasma vitamin E and zinc levels, whole blood selenium and glutathione peroxidase levels, and red blood cell fragility testing. Except for the mother all members of this family were asymptomatic, had good visual acuity and had normal electrophysiologic findings. The mother had bilateral disciform scars resulting in loss of vision. There was no evidence of aminoaciduria or of abnormalities in systemic factors tested which may be associated with protection against lipoprotein peroxidation. This condition appears to be similar to central areolar retinal pigment epithelial dystrophy reported by Fetkenhour et al. (1976).

Adult↗

Familial bilateral macular colobomata.

A mother and daugher had a life-long history of poor vision and photophobia, bilateral macular colobomata, and retinal pigment epithelial abnormalities; psychoelectrophysiological testing indicated extensive loss of cone or cone-rod function. These cases suggest this is a genetically determined condition unrelated to infection.

Adolescent↗

Ferromagnetic hyperthermia: functional and histopathologic effects on normal rabbit ocular tissue.

Ferromagnetic (FM) hyperthermia has previously been evaluated in a rabbit tumour model of ocular melanoma. To study the effect of focal heating in normal rabbit eyes, FM seeds were implanted into a 14-mm episcleral plaque an heated to operating temperatures of 48 or 58 degrees C. Thermal induction was performed by placing rabbits in a uniform, oscillating (11 kHz) magnetic field operating at 1200 W and as H-field strength of 265 A/m. Eyes were heated for 60 min with continuous scleral temperature monitoring. Hyperthermic effects were monitored by direct opthalmic examination, fundus photography, serial electroretinography and histopathology. Intraocular temperatures were mapped with direct fiberoptic thermometry. All treatment effects were confined to the area covered by the episcleral plaque. Direct ophthalmoscopic examination revealed early retinal whitening during heat induction followed by localized exudative retinal detachments, limited to the area of the retinal surface overlying the plaque, that resolved spontaneously. Serial electroretinography was virtually indistinguishable between the 48 and 54 degrees C temperature groups. We noted a minimal alteration in a- and b-wave amplitudes with no changes in implicit times. Histopathology at 3 weeks post-treatment documented chorioretinal scarring overlying the thermal plaque treatment zone. No evidence of heamorrhage infection, cataract or scleral thinning was noted. This study documents the apparent focal containment of thermal effects with FM heating utilizing operating temperatures ad high as 54 degrees C for 60 min, and discloses no evidence of diffuse ocular toxicity.

Animals↗