Abnormal findings relatives of patients with juvenile hereditary macular degeneration (Stargardt's disease).
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Biomedical subjects
Publications and source records attributed to S Merin.
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The authors review the symptomatic and genetic aspects of the various entities of isolated retinitis pigmentosa (R.P), both in its typical form and in the forms associated with the affection of other ocular tissues. Syndromes in which R. P. is associated with the affection of other organs and systemic disorders are also cconsidered. Origin, diagnosis and the course of the disease are discussed with regard to electrophysiology, histopathology, fluorescein angiography and biochemistry. Animal research has provided new realizations about the ultrastructure and physiological mechanisms of retinal photoreceptors, and better understanding of abnormal changes. The possible pathogenesis of the human disease, based on research findings, is onsidered. Although R.P. is generally thought to be to be an "untreatable" disease, therapy may be effective in several pathological entities. Methods and results of therapy with vitamins, light deprivation and vision aids are discussed.
A case of Chediak-Higashi syndrome diagnosed by its characteristic ocular findings is described. The appearance of the optic disc and the contrast between total (or nearly total) lack of pigment in the pigment epithelium and the relatively unaffected choroidal pigmentation are believed to be observations of paramount importance in the differential diagnosis by ophthalmoscopic examination. Electrophysiological tests of our case showed abnormal responses and a further deterioration of the ERG and VEP on repeated examinations. Electron microscopic study of a conjunctival biopsy revealed the presence of pathognomonic giant intracytoplasmic lysosomal granules in stromal fibroblasts and, thus, can be used as an adjunct test in suspected cases of Chediak-Higashi syndrome.
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