In 1989, 22 children (11 boys, 11 girls aged 8-23 years) with nephropathic cystinosis, who had received a total of 28 renal allografts over the previous 14 years, were reviewed. Nineteen were alive, of whom 17 had functioning grafts 5 months to 13 years after transplantation. The mean serum creatinine level in these 17 was 135 mumol/l. Patient and graft survival did not differ from non-cystinotic children. Persistent hypothyroidism was found in 3 patients, transient diabetes mellitus in 1, severely disturbed vision in 1 and brain atrophy in 11. Arterial hypertension was present in 16 patients. Growth retardation was universal, although in 4 patients on cyclosporin A post-transplant catch-up growth occurred. Five patients over 15 years completed puberty. Readjustment in terms of school performance was good but was less good for psychosocial development. None of the patients had ever been treated with cystine-depleting agents; the data will therefore provide a historical control group with which to compare the results from a group treated with these agents.

The effect of miosis, lens accommodation, and defocusing on the various components of the pattern electroretinogram elicited by checkerboard reversal was investigated by employing aperture stops of different size, varying the mean luminance of the target, and inserting spherical lenses of various optical diopters in front of the eye. After topical administration of pilocarpine (1%) the following changes in the pattern electroretinogram were observed: (i) a decrease of the pupillary diameter leading to a lowered target luminance, which produced attenuation of PERG amplitudes and prolonged latencies, and (ii) defocusing by accommodation of the crystalline lens, which produced attenuation of PERG amplitudes no effect on latencies.

Results indicate the presence of melanoma-associated retinopathy (MAR), which-like carcinoma-associated retinopathy (CAR)-ranks among the tumor-associated diseases of the retina. CAR, MAR, and CSNB can be differentiated immunohistochemically by serum autoantibody determination and electrophysiologically by flash-ERG. As opposed to CAR, the immune response in the case of MAR is not to antigens of photoreceptors and ganglion cells, but to retinal so-called ON-depolarizing bipolar cells mainly connected in series to the rods. In addition, a waves are intact and b waves extinct, resembling the situation of CSNB.

Nineteen obligate heterozygotes, 8 individuals at risk of being heterozygote, and 10 patients afflicted with four different forms of neuronal ceroid lipofuscinosis were examined electrophysiologically. The group of obligate heterozygotes was compared to age-matched control groups. Statistically significant differences were found between scotopic b-wave amplitudes, P-ERG amplitudes, and EOG light peaks of the obligate carriers of the juvenile type and the control subjects. The photopic L-ERGs and the latencies of the VEPs were mostly within the normal range. The findings represent the first evidence of functional ophthalmological changes in obligate carriers of neuronal ceroid lipofuscinosis and demonstrate that heterozygotes with certain hereditary autosomal recessive diseases may manifest subtle functional signs.

In ten healthy subjects we recorded simultaneously pattern-ERGs and multichannel VEPs evoked by checkerboard reversal stimuli presented in the center, and at three different locations on the nasal and temporal retina. In the near periphery significantly larger pattern-ERG amplitudes were found for the nasal retina. Farther out in the periphery this effect reversed, and stimuli presented to the temporal retina yielded larger pattern-ERG amplitudes. Component latencies showed also differences with larger latencies for nasal than temporal retinal stimuli in the near periphery. In addition, pattern-ERG amplitudes increased with check size while peak latencies decreased. Retinal stimulus location had a significant influence on the VEP topography reflected by potential distributions lateralized over occipital scalp areas contralateral to the hemiretina stimulated. There were no differences between VEP activity evoked by nasal or temporal retinal stimuli. The results relate to differences in local retinal organization reflected by the distribution of photoreceptors and other neural elements across the retina as well as to functional differences in visual information processing between different retinal areas.