[Atypical ocular toxoplasmosis with concomitant ocular reactivation of varicella-zoster virus and cytomegalovirus in an immunocompromised host]. / Atypische Toxoplasmose-Chorioretinitis mit begleitender Varizella-Zoster-Virus und Zytomegalovirus-Reaktivierung bei einem immunsupprimierten Patienten.

BACKGROUND: Necrotising retinopathy in immunocompromised hosts is characterised by an unfavourable course often with unspecific clinical features. Therefore, differential diagnosis can be critical. HISTORY AND SIGNS: A case of an initially therapy-resistant, necrotizing retinopathy is presented in a 65-year-old immunocompromised male patient suffering from chronic B-cell leukemia. THERAPY AND OUTCOME: Despite demonstration of cytomegalovirus and Varicella-Zoster-Virus DNA by polymerase chain reaction in vitreous, aqueous humour samples and from retinal biopsy with specific antiviral therapy, a progression of retinal necrosis was noted. Finally Toxoplasma gondii DNA was detected and retinal necrosis resolved after specific treatment. However, visual acuity remains poor because of optic nerve atrophy. CONCLUSIONS: The polymerase chain reaction is an important diagnostic tool for differential diagnosis in immunocompromised patients suffering from necrotising retinopathy. If resistance to therapy is noted atypical ocular toxoplasmosis should be considered. The presented case report shows that even multiple infections are possible in the same host.

Wolfram (DIDMOAD) syndrome: report of two patients.

We report a girl with Wolfram syndrome who presented with juvenile-onset diabetes mellitus when she was 4 3/12 years old. Optic atrophy and high frequency sensorineural hearing loss were found at 7 and 9 5/12 years of age, respectively. Her younger brother also developed Wolfram syndrome when he was 3 2/12 years old. Wolfram syndrome is also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). This syndrome is transmitted as an autosomal recessive trait and is a progressive neurodegenerative disorder. It should be considered in a diabetic patient with unexplained optic atrophy, hearing loss, or polyuria and polydipsia in the presence of adequate blood glucose control. Visual acuity should be checked annually in patients with juvenile-onset diabetes mellitus. Optic atrophy should be considered if visual acuity is impaired.

Ocular symptoms in association with antiphospholipid antibodies.

OBJECTIVE: To describe the clinical and serologic findings of 50 antiphospholipid antibody (APA)-positive patients within a retrospective study. METHODS: Measurement of visual acuity, slit-lamp biomicroscopy, tonometry, fundus examination and perimetry. Laboratory tests were performed for detection of APA against thromboplastin and cardiolipin. Antinuclear antibodies (ANA), antibodies to dsDNA, antithyroidal and antiparietal antibodies were also tested. RESULTS: A combination of both transient and permanent visual disturbances was noticed in more than half of the patients. Transient visual disturbances included transient blurred vision, partial defects of the visual fields and amaurosis fugax. The most frequent permanent abnormalities were optic atrophy in 20 patients, due to AION in 9 cases, and disturbances of the choroidal circulation in 17 patients. Fourty-six patients had positive levels of thromboplastin APA; cardiolipin APA were found to be increased in 36 patients. CONCLUSIONS: We did not find a clear correlation between APA activity or the immunoglobulin classes in the individual and the severity of the ocular disease. The benefit from a therapy with the antiplatelet agent acetylsalicylic acid was evident in a reduction of the patients' transient visual disturbances and, in most cases, no further progression of permanent visual field defects was observed.

Class II HLA-DC beta-chain DNA restriction fragments differentiate among HLA-DR2 individuals in insulin-dependent diabetes and multiple sclerosis.

HLA-DR2 allele is negatively associated with insulin-dependent diabetes and positively associated with multiple sclerosis (MS). A 2.2-kilobase-pair EcoRI DNA restriction fragment detected with a beta-chain HLA-DC cDNA probe was found to be strongly correlated with HLA-DR2 in the normal population, but was absent in HLA-DR2 insulin-dependent diabetic patients. This fragment was found in HLA-DR2 multiple sclerosis patients with the same frequency as in controls. A beta-chain HLA-DC 12-kilobase-pair BamHI fragment might differentiate multiple sclerosis patients from healthy individuals.

Progressive visual loss in syphilitic optic atrophy.

A 62-year-old man had progressive visual loss from neurosyphilis while his optic disks appeared atrophic. At no time was there evidence of inflammation of the globe or of either optic disk. The presence of an extremely high IgG index and five oligoclonal bands in the cerebrospinal fluid indicated that the central nervous system was synthesizing antibody specific to Treponema pallidum. Recent investigations indicate that much larger doses of penicillin are necessary for adequate treatment of neurosyphilis than have been recommended previously.

Hereditary optic atrophy with probable association with a specific HLA haplotype.

A family with hereditary optic atrophy in 4 members of 3 generations is described. The clinical findings differ from those previously observed in hereditary optic atrophy and in Leber's disease, indicating that the hereditary optic atrophy described in this report represents a new disease entity, which is inherited in an autosomal, dominant way with incomplete penetrance. Analyses of the cerebrospinal fluid and serum did not reveal signs of immunoglobulin synthesis within the central nervous system, i.e. findings encountered in a considerable proportion of patients with optic neuritis. An association was found between the family members affected by the disease and the major histocompatibility system haplotype A2 B8. A linkage thus occurred between the disease and the HLA region on human chromosome No. 6.