Cell dysfunction in inherited blindness.
Inherited disorders that cause blindness in animals and humans may share common cellular and biochemical abnormalities. The initial pathology of the disorders will be first apparent in the cell type that expresses the mutant gene or in its neighbours that depend upon its functional, metabolic or structural activities. The interdependence of the retinal receptors, pigment epithelium and choroid have been discussed in terms of their specialized functions and the possibility that specific abnormalities in the respective cel types can be identified by pathological changes in the affected cell or by disruptive changes in the integrity of their nearest neighbours. Examples from genetic, morphological and biochemical studies of animals disorders are presented in light of their possible relevance to an understanding of Retinitis Pigmentosa.
D000818:Animals; D001766:Blindness / Q000235:genetics* / Q000473:pathology / Q000662:veterinary; D002829:Choroid / Q000473:pathology; D004283:Dog Diseases / Q000235:genetics / Q000473:pathology; D004285:Dogs; D006801:Humans; D051379:Mice; D008818:Mice, Neurologic Mutants; D010786:Photoreceptor Cells / Q000473:pathology; D010857:Pigment Epithelium of Eye / Q000473:pathology; D051381:Rats; D011922:Rats, Mutant Strains; D012162:Retinal Degeneration / Q000235:genetics / Q000473:pathology / Q000662:veterinary; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000473:pathology