DNA-diagnosis and standardization of hereditary retial diseases.

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The retina has many hereditary diseases compared to other tissues. Recently the locus genes or the genes close to the locus have been isolated such as L1.28 for retinitis pigmentosa, red, blue and green genes for color blindness, ornithine aminotransferase for Gray's atrophy, mitochondrial DNA for Leber's disease, Opsin for night blindness, Rb gene for retinoblastoma. Diagnosis by restriction fragment polymorphism(RFP) was applied to retinitis pigmentosa and Leber's disease using L1.28 and mitochondrial DNA probes, respectively. The distribution of ornithine aminotransferase which is a locus gene of Gray' atrophy was studied immunohistochemically in the retinas. The structures and functions of two retina-specific CDNAs (MEKA and visinin) were studied and it was found that MEKA protein is associated with beta- and gamma- subunits of transducin, and visinin is a calciumbinding protein in the cone cells. Pigment epithelium-specific cDNA clone (MM115) was also isolated and it had a protease inhibitory activity. It is suggested that a clinician should perform the DNA-diagnosis for himself and use the locus DNA for a probe, not a probe which needs the linkage analysis.