Metastatic bacterial endophthalmitis. A report of four cases all leading to blindness.

PURPOSE: To draw attention to the rare but severe entity of endophthalmitis as encountered due to metastatic spread of bacteria. METHODS: We report our experience from four cases of metastatic bacterial endophthalmitis. RESULTS: Systemic infection (Pneumococcus meningitis) was evident in two cases, but in the other two there was no early clue to systemic infection. Eventually, however, endocardial vegetations were disclosed as the source of bacterial emboli (E.coli, peptostreptococcus). In the most atypical patient, magnetic resonance scanning had indicated disseminated brain tumours, and only autopsy revealed the infectious nature of the disease. Ocular ultrasonography being part of the work-up, the four eyes under study all showed marked morphological intraocular changes, including 'solid tumour' in the presumed neoplastic case. CONCLUSION: Our cases stress the severity of metastatic bacterial endophthalmitis and the easily missed early diagnosis, even where experienced clinicians are involved. The role of diagnostic ultrasound is discussed.

Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.

We studied a large multigeneration Danish family with autosomal dominant congenital stationary night blindness. Both electrophysiological and psychophysical findings in affected family members were identical to those reported in patients from the 'Nougaret family'. The disease locus in the Danish family has now been mapped by demonstrating close linkage without recombination (Q = 0.00 at Zmax = 14.4) to the locus for alpha-L-iduronidase assigned to chromosome 4p16.3. Interestingly the gene for the beta-subunit of the rod photoreceptor cGMP-specific phosphodiesterase maps to the very same chromosomal region.

Autosomal dominant stationary night-blindness. A large family rediscovered.

In 1909, 2 years after the famous publication by Nettleship, a large family with congenital stationary night-blindness of the 'Nougaret type' was published by the Danish district surgeon, Sigurd Rambusch. In 1990 the 'Rambusch family', still resident in the original area, was sought out and rediscovered, at which time the reconstructed part of the pedigree comprised more than 200 affected persons in 11 generations. Dark adaptometry and electroretinography were performed on a few affected family members, including a descendant with a uniocular affection. The pedigree is presented and recordings of dark adaptation courses and electroretinographical responses from a few family members are demonstrated.