Chromatic and luminance systems deficits in glaucoma.

The purpose of this study was to compare the effects of glaucoma, at different stages of the disease process, on the two color-opponent system and on the luminance system. Discrimination thresholds were measured along the two equiluminant cardinal color axes (RG and YV) and along an achromatic luminance axis (LD) in 27 patients with open-angle glaucoma (OAG) and in 13 glaucoma suspects. Patients with OAG showed increased thresholds along all three axes. The threshold increases correlated significantly with the level of visual field loss. For glaucoma suspects, thresholds were also increased along all three axes. A subgroup of patients with OAG, those with pigmentary glaucoma, showed minimal increases in threshold along the RG axis. To further investigate this finding an additional 15 patients, seven with primary OAG and eight with pigmentary glaucoma were run in a two-alternative forced-choice experiment. For patients with pigmentary glaucoma, thresholds were increased less along the RG axis. The results of the study for OAG patients and glaucoma suspects are consistent with deficits in the two color-opponent systems, and in the luminance system.

Ocular pathology of Fabry's disease in a hemizygous male following renal transplantation.

The ocular pathology of a hemizygous male with Fabry's disease after renal transplantation is reported. The ocular pathology in this patient was essentially identical to that which has previously been reported for both hemizygotes and heterozygotes afflicted with Fabry's disease. Glycolipid deposits and/or osmophilic inclusion bodies were found universally throughout the ocular vasculature. Endothelial, perithelial and smooth muscle cells of the vessel walls were preferentially involved. Iris pigment epithelium was affected as were the corneal epithelium cells. Reduplication of the basement membrane was seen on electron microscopy. Retinal ganglion cells were unaffected. Involvement of the retinal pigment epithelium and the corneal endothelium was documented for the first time.

Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.

The cerebro-hepato-renal syndrome is a rare familial malady with cerebral, renal, and skeletal abnormalities, severe hypotonia, cirrhosis, iron and lipid storage, and death within 6 months. Correlated electron microscopic, histochemical, and biochemical studies demonstrate defects in two oxidative organelles. Peroxisomes cannot be found in hepatocytes and renal proximal tubules. In hepatocytes and cortical astrocytes, mitochondria are distorted in their appearance and glycogen stores are increased. Oxygen consumnption of brain and liver mitochondrial preparations with succinate and with substrates reducing nicotinamide adenine dinucleotide is markedly diminished, but the consumption is normal with ascorbate and tetramethylphenylenediamine, which suggests a defect in electron transport prior to the cytochromes. Histochemical studies of mitochondrial oxidation point to a defect between the succinate dehydrogenase flavoprotein and coenzyme Q, possibly in the region of nonheme iron protein.