Retinopathia Pigmentosa Plus - the Value of Ultra-Structural Examination of the Human Retina

Abstract

Retinopathia pigmentosa is more widely, but somewhat incorrectly known as Retinitis pigmentosa (RP). Its course as a primary exclusively retinal disease follows autosomal-dominant, autosomal-recessive, or X-linked recessive modes of inheritance, or it may be sporadic. However, a progressive retinopathy, also called tapeto-retinal degeneration, may also be associated with numerous disorders: retinopathia pigmentosa plus (RPP). Among these RPP are those which form part of certain syndromes, e.g. Laurence-Moon-Bardet-Biedl syndrome, the Hallgren syndrome, the Marinesco-Sjögren syndrome, to name a few. Other RPP are associated with disorders of different organs, the skin, e.g. Werner disease, the brain, e.g. Hallervorden-Spatz disease, the kidney, e g. nephronophthisis, the skeletal muscle, e g, myotonic dystrophy; bone, e.g. osteopetrosis familiaris, and peripheral nerves, e.g. hereditary motor-sensory neuropathies III and VII. In some such forms of RPP, the generalized associated or underlying disorder may be marked by abnormalities of certain cytological organelles which are present, and therefore affected, in numerous tissues and organs, e.g. lysosomal diseases, mitochondrial diseases, and peroxysomal diseases. In other RPP, although comprising abnormalities in several organs and tissues, a common underlying structural abnormality is not apparent, e.g.