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Intermittent obstructive hydrocephalus in the Arnold-Chiari malformation.

A 26-year-old woman with a Chiari-I malformation and intermittent symptoms of intracranial pressure elevation is described. Clinically, papilledema was accompanied by midperipheral retinal hemorrhages. Repeat computed tomographic scans and lumbar puncture showed normal results. Posterior fossa-directed magnetic resonance image scanning revealed the Chiari-I malformation. Intraventricular monitoring was necessary to demonstrate the marked but unsustained elevation of intracranial pressure.

Adult↗

Central retinal vein occlusion complicating systemic lupus erythematosus.

Retinal lesions occur in 25 to 30% of patients with systemic lupus erythematosus (SLE). Visual loss, however, is rare. A patient who developed central retinal vein occlusion and blindness during the course of active SLE is described. The pertinent literature is reviewed with attention to possible pathophysiologic mechanisms.

Adolescent↗

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

Pseudoxanthoma elasticum (PXE) is a mendelian disorder characterized by calcification of elastic fibers in skin, arteries, and retina. It results in dermal lesions, arterial insufficiency and retinal hemorrhages, leading to macular degeneration. PXE is transmitted either as an autosomal dominant or recessive trait and several sporadic cases have been observed. Mutations in the ABCC6 gene have been identified very recently in patients. Here, we report on a large Italian family affected by pseudoxanthoma elasticum for which linkage analysis had pointed to a region encompassing markers D16S3069-D16S405-D16S3103; hemizygosity of marker D16S405 allowed us to detect a submicroscopic deletion of at least 900 kb involving ABCC6, ABCC1, and MYH11. Mutation analysis on the other allele of the family, as well as on two additional sporadic cases, revealed nonsense (Y227X, R518X, R1164X) and frame-shift (c.960delC) mutations in ABCC6 (MRP6) further confirming the role of this multi-drug resistance gene in the etiology of pseudoxanthoma elasticum. Furthermore, clinical re-examination of members of the family harboring the deletion led to the detection of additional features, potentially caused by the deletion of the MYH11 gene. In the course of the analysis five nonpathogenic variants were found in ABCC6: 1233T>C, 1245G>A, 1838 T>G (V614A), 1890C>G, and 3506+83C>A. Hum Mutat 18:85, 2001.

Adult↗

Trichinosis: clinical report and histochemistry of muscle.

A 35-year-old woman contracted severe trichinosis which was atypical in that it lacked a gastrointestinal prodrome and periorbital edema, and in that eosinophilia developed only late in the course of the illness. The patient developed an incapacitating myositis as well as complications of encephalopathy, myocarditis, and retinal hemorrhages, resulting in severe debilitation of more than two and one-half months' duration. Muscle histochemistry illustrated previously unreported features.

Adenosine Triphosphatases↗

Rips of the retinal pigmentepithelium.

A rip or rupture of the detached retinal pigment epithelium (RPE) with subsequent retraction of that layer is an often misdiagnosed affection of the posterior pole of the eye. The histologic appearance of this entity has to our knowledge not yet been published, but the fundus aspect and fluorescein angiography show that the focal absence of the pigmentepithelial layer is very likely. A rip is only seen in older age and it always appears in a detached RPE that often exists in combination with other features of a senile macular degeneration. Mostly the rip arises spontaneously but it may develop sometimes directly after laser coagulation of the detached RPE.

Aged↗

Bilateral blindness in cavernous sinus thrombosis.

An unusual case of bilateral blindness secondary to a cavernous sinus thrombosis is reported. A woman who had undergone reconstructive surgery after tumor resection of the floor of the mouth, was readmitted 1 month later with bilateral proptosis and signs of sepsis. There were no complaints of blurred vision. A CT-scan of the orbits demonstrated a bilateral cavernous sinus thrombosis (CST) secondary to an infection at the skull base behind the myocutaneous flap. A few days later she became blind, due to bilateral central retinal artery occlusion and anterior ischemic optic neuropathy. The general critical condition improved with intensive AB treatment. The patient recovered well without neurological defects apart from her permanent bilateral blindness. There were no signs of tumor recurrence. To our knowledge, this is the first documented case of bilateral blindness in a patient suffering from CST.

Blindness↗

Ten years experience with choroidal angiography using indocyanine green dye: a new routine examination or an epilogue?

The choroidal circulation can be studied by an angiographic technique which utilizes near-infrared light wavelengths and a biocompatible dye, indocyanine green (CardiogreenR). Near-infrared light is less absorbed than visible light by the pigment epithelium and the macular xanthophyll, and indocyanine green (ICG) dye doesn't leak from the choriocapillaris as sodium fluorescein dye typically does. Due to the high rate of choroidal blood flow, a fundus camera adapted with special filters and a continuous light source was used in order to make angiograms at the rate of 10 per second. Our experience at the Wilmer Institute and the Eye Clinic at St. Gallen includes 180 choroidal angiograms of normal volunteers and approximately 500 choroidal angiograms of patients with several fundus diseases, mainly senile macular degeneration, diabetic retinopathy and choroidal tumors. Although many of our results are preliminary, we present them to demonstrate the potential applications of this method in ophthalmology. Some factors which may have inhibited an extensive propagation of clinical choroidal angiography in the past are also discussed.

Aged↗

Joint application of hyperacuity perimetry and gap tests to assess visual function behind cataracts: initial trials.

We have developed two related clinical tests that offer potential in better assessing visual function behind an ocular opacity. The tests are resistant to the effects of opacities because they utilize a localization task (vernier acuity) rather than a resolution task. In this paper we report the initial trials in which we apply the two tests together. Results from six case studies (some with actual opacities and some with simulated opacities) illustrate both the conduct of the tests and their potential capabilities in detecting even very modest retinal dysfunction in the presence of opacities. These techniques offer considerable potential in the separation of a given acuity loss observed in the presence of cataract into a portion due to the opacity and a portion due to retinal dysfunction.

Aged↗

Purtscher's disease.

An 8-year-old boy was run over by a caravan and showed the typical fundus lesions described by Purtscher in 1910. Fundus picture, fluorescein angiograms and clinical course are presented, followed by a discussion on the different theories concerning the aetiology.

Child↗

Interhemispheric acute subdural hematoma: a computed tomographic manifestation of child abuse by shaking.

Parieto-occipital interhemispheric acute subdural hematomas (IASH) were found in 17 (61%) of 28 abused children examined by computed tomography, presenting with neurologic symptoms. CT demonstration of IASH correlated with injury due to severe shaking, the presence of retinal hemorrhages, and the absence of the stigmata of battering. Subsequent computed tomographic examination in these patients demonstrated infarction in 50%, and cerebral atrophy in 100%.

Acute Disease↗

Coat's disease. An epidemiologic and Fluorescein angiographic study.

Coats' disease represents a disorder of the retinal vascular walls. In a series of 112 consecutive eyes with Coats' disease the involvement was unilateral in 90.2%. The majority (72%) of patients were male. 57.8% were under 20 years of age. There was, however, a second peak of the disease (30.4%) between the age of 41 and 60. Severe cases were found mainly among juvenile patients, whereas in the senile group milder cases prevailed. Fluorescein angiographic findings comprised vascular aneurysms in almost all cases, rarefaction and coarsening of the capillary bed in 71%, capillary occlusions in 70%, occlusions of arterioles or arteries in 27%, shunt formations in 27%, extensive widening of arteries or veins in 27% and leakage of dye mainly in advanced cases. The participation of the central retina in the disease process was variable. Evidence is presented that Leber's military aneurysm retinitis is not a separate entity but a special form of Coats' disease.

Adolescent↗