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Biomedical subjects

J L Kobrin

Publications and source records attributed to J L Kobrin.

4 recordsLinked to original sources
PubMed1990

Dental abnormalities as a component of the Laurence-Moon-Bardet-Biedl syndrome.

Previous reports have described the diversity of the phenotypic expression of the Laurence-Moon and Bardet-Biedl syndrome. This report describes two brothers whose features include the previously unreported defect of oligodontia in addition to retinitis pigmentosa, hypogenitalism, strabismus, short stature, and developmental delay. The reports over the last century have emphasized the varied expression from family to family and even differences among members of the same family. This report broadens the already pleomorphic nature of this syndrome.

Abnormalities, Multiple↗
PubMed1982

Histopathology of Best's macular dystrophy.

The pathogenesis of Best's macular dystrophy (BMD) is poorly understood. Previous histopathologic descriptions of BMD have been published in the literature; however, all were from elderly persons who clinically exhibited late manifestations of the disease. In this article, light and electron microscopic observations of an earlier stage of BMD are reported. Both globes were from a 28-year-old patient who had a "scrambled egg" lesions in the macula with some features of a pseudohypopyon. Our studies indicate that BMD is a generalized retinal pigment epithelial (RPE) abnormality that results in an abnormal accumulation of lipofuscin granules. Lipopigment accumulates within the RPE, within macrophages in the subretinal space, and within the choroid. These observations help to explain the clinical appearance as well as the fluorescein angiographic and electrophysiologic findings of this conditions.

Adolescent↗
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↗