The clinical and biochemical spectrum of patients with mevalonic aciduria is heterogeneous. Manifestations of the disease seem to be age dependent, as evident from this first report of adolescent patients. In patients who survive infancy, short stature, ataxia caused by cerebellar atrophy, and ocular involvement with retinal dystrophy become predominant findings. Recurrent febrile crises seem to diminish with increasing age and may not even be an obligatory finding. Elevation of IgD is most likely a secondary phenomenon that seems to be linked to recurrent febrile crises.

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Using the retinal function imaging technology revealed significantly lower retinal blood flow velocities in the small and large retinal vessels in patients with retinitis pigmentosa than in healthy subjects. This corresponds with the known decrease in the retinal vessel diameters as observed upon ophthalmoscopy in patients with retinitis pigmentosa. Retinal function imaging technology may hold promise for measurements of retinal blood flow parameters.

With the Heidelberg software, automated static threshold perimetry using the SLO is possible within reasonably short examination times. The mean time interval between two test point presentations is about one tenth of that necessary using the original Rodenstock software. There is a systematic difference between SLO and Octopus fields of about 4 dB which was not very much influenced by the stimulus locations.

These findings suggest autoimmune retinopathy, mediated by anti-GAD65 autoantibodies as the underlying cause of visual loss.

The latent period of the pupil light reflex was investigated by means of infrared pupillography in patients suffering from optic neuritis (retrobulbar neuritis, papillitis), papilledema, optic atrophy or anterior ischemic optic neuropathy. The inflammatory diseases of the optic nerve and the optic atrophy cause significant prolongation of the latent period of the pupil light reflex. Conversely, in papilledema no prolonged latent period could be demonstrated. The vascular diseases of the optic nerve affect the pupil latent period also, however, to a lower degree.

A typical finding in dominant infantile optic atrophy (DIOA) is the variation of the phenotypic expression of the DIOA gene even within one family. It The standard conditions for the VECP were as follows: Checkerboard pattern stimuli were generated on a black-and-white TV monitor. The field size of the screen subtended 14-50 by 18-50 and the checks were 38 min of arc. The mean luminance was 30 cd/m2 and the modulation depth was 0 97. The checks were temporally alternated at a modulation rate of four reversals/s (2 Hz). The active electrode was attached 2-3 cm above the inion. The right ear was earthed and the reference electrode fixed to the left ear. All VECP recordings were monocular. In some cases the mean luminance was reduced to 10 cd/M2 and the modulation depth to 0-2 (reduced contrast test

A case of congenital glaucoma in cutis marmorata teleangiectatica congenita (CMTC, van Lohuizen syndrome) is described. The cutaneous anomaly and heterochromia iridium were noticed at birth. Brown discoloration of one iris was due to iris anterior layer dysplasia, resulting in unilateral glaucoma. Two trabeculotomies were performed until persistent normalization of intraocular pressure could be achieved. The possibility of a genetic basis and hereditary condition of CMTC and its association with congenital glaucoma is discussed. Patients with CMTC should regularly undergo ophthalmological follow-up to rule out development of glaucoma.