[Atypical optic neuritis: the importance of a comprehensive diagnostic work-up]. / Atypische Neuritis nervi optici (NNO): Bedeutung einer umfassenden Abklärung.

A 65-year-old woman was referred for sudden bilateral loss of vision. She was vaccinated a few days earlier. The ophthalmological examination showed a massive optic disc swelling on both eyes. Magnetic resonance imaging (MRI) revealed suspected bilateral optic neuritis without cerebral involvement or transverse myelitis. After serological detection of anti-MOG (myelin oligodendrocyte glycoprotein) antibodies, the patient was treated with high-dose corticosteroid pulse therapy until vision recovered. Discussion: an atypical optic neuritis may indicate a neuromyelitis optica spectrum disorder (NMOSD), which should be further characterized by determination of Aquaporin 4(AQP4)-IgG and MOG-IgG.

Bleb needling in encapsulated filtering blebs: evaluation by optical coherence tomography.

PURPOSE: To evaluate the role of anterior segment optical coherence tomography (OCT) in describing the morphology and outcome of encapsulated filtering blebs after bleb needling. PROCEDURES: Prospective assessment of 9 patients - before, 2 days and 6 months after filtering bleb needling with 5-FU - using slit-lamp examination, Goldmann tonometry and OCT. RESULTS: Before the needling, the average internal height of the cyst was 1.3 +/- 0.8 mm. Two days after the needling procedure, the cyst collapsed in 5 patients. After 6 months, the average internal cyst height was 0.7 +/- 0.4 mm. All patients with a collapsed cyst at day 2 after needling had controlled regulated IOP without glaucoma medication. CONCLUSIONS: The preoperative internal height of the cyst does not correlate with the outcome of the needling. A collapsed cyst at day 2 after needling is an indicator of controlled intraocular pressure, whereas a prominent cyst after 6 months indicates poor function.

[Clinical aspects of Menkes syndrome]. / Klinische Aspekte des Menkes-Syndroms.

The difficulties of early diagnosis of Menkes' kinky hair syndrome are described guided by the clinical courses of three related patients. One of these children could be observed continuously from birth. Different from other descriptions the diagnostic value of the clinical features observed in our patients is estimated as follows: 1. severe cerebral degeneration with seizures in the first year of life; 2. subdural hygroma; 3. decreased levels of serum copper and serum coeruloplasmin; 4. hair abnormalities; 5. skin abnormalities. The diagnosis is likely, if serum copper and serum coeruloplasmin are decreased. The diagnosis is proved by increased copper uptake into cultured fibroblasts. The prenatal diagnosis is possible by chorionic villus biopsy or amniocentesis. The importance of carrier detection by cultured fibroblasts and subsequent genetic counselling is underlined.