Phacoemulsification in bilateral anterior lenticonus in Alport syndrome: A case report.

RATIONALE: To report the visual status and results of phacoemulsification cataract surgery in a young patient with Alport syndrome associated with bilateral anterior lenticonus. The milestone of this report is the use of anterior segment optical coherence tomography (AS-OCT) to confirm the central protrusion of the anterior surface of the crystalline lens. PATIENT CONCERNS: A 23-year-old young woman presented with severe progressive visual loss in both eyes, which started several years ago. DIAGNOSES: Refractive status was indicative of high myopia with astigmatism and vision was not improved with optimal correction to better than 0.1 in the right eye and 0.2 in the left eye (visual acuities given in decimal notation). Slit-lamp examination showed transparent cornea, anterior lenticonus and posterior sub-capsular cataract in both eyes. The classical appearance of oil droplet was evident using retro-illumination on the slit lamp. INTERVENTIONS: The natural lenses were replaced with intraocular lens (IOL). OUTCOMES: An excellent refractive status achieved associated with an uncorrected distance visual acuity 0.9 and 0.8 in the right and left eye, respectively. LESSONS: AS-OCT is a valuable device for confirming the budging of the anterior crystalline lens surface.

Fovea Plana in a 9-Year-Old Boy Presenting with Decreased Vision in the Left Eye.

BACKGROUND Foveal hypoplasia (FH) is a congenital disorder, generally associated with other conditions. CASE REPORT A 9-year-old boy presented with moderately decreased vision in the left eye. Fundus examination showed an absence of macular reflection and no foveal pit was seen on optical coherence tomography. Fluorescein angiography demonstrated the absence of a foveal avascular zone. CONCLUSIONS This is a rare case of a unilateral fovea plana associated with a visual impairment.

New Technique for Chiasmapexy Using Iliac Crest Bone Graft: 2 Cases of Visual Impairment Caused by Empty Sella Syndrome.

BACKGROUND: Chiasmapexy is used to treat empty sella syndrome, and various materials are used for the elevation of the optic chiasm. However, the use of artificial substances may have the risk of graft infection, and fat and muscle may be absorbed over the long term after surgery. In addition, bone and cartilage may be unavailable in adequate amounts. Here, we describe a new technique for chiasmapexy using an iliac crest bone graft. CASE DESCRIPTION: The first patient was a 71-year-old woman who had undergone transsphenoidal surgery twice for the treatment of pituitary adenoma and Rathke cleft cyst. The optic chiasm collapsed after the second surgery and her visual field worsened gradually. We performed chiasmapexy using fat, fascia, and a septal mucosal flap, but the optic chiasm did not remain in the normal position because of graft shrinkage. Finally, we used an iliac crest bone graft, which resulted in good visual function. The second patient was a 58-year-old man who was incidentally diagnosed with empty sella syndrome. The patient's bitemporal hemianopia gradually progressed. As in the first case, we used an iliac crest bone graft, which halted the deterioration of visual function after chiasmapexy. CONCLUSIONS: The advantages of iliac bone are that it is less likely to absorb and become infected than synthetic materials. This method may be suitable for reoperative cases, especially those wherein the septal cartilage has been removed in a previous surgery. This method will halt visual deterioration and may be one of the considerable options for chiasmapexy operations.

Choroidal metastases as the initial presentation of lung cancer: A rare scenario.

Clinical reports of symptomatic intraocular metastasis as the initial presentation of lung cancer are rare. We report the case of a 49-year-old female patient who presented with loss of vision due to choroidal metastases as the initial manifestation of her disseminated lung cancer. This particular patient was referred to us from ophthalmology department as a case of choroidal metastases from unknown primary. Detailed evaluation at our department helped detect the primary to be a nonsmall cell carcinoma of the right lung, which had multiple distant metastases.

[Von Hippel-Lindau disease : OCTA findings in retinal hemangioma]. / Von Hippel-Lindau-Syndrom : OCT-A Befund bei retinalen Hämangiomen.

The case report of a 35-year-old woman suffering from Hippel-Lindau syndrome (VHL) with retinal hemangiomas is presented. The patient developed macular edema with loss of vision and metamorphopsia. Laser treatment of hemangiomas improved the clinical picture. Hemangiomas were visualized using fluorescein angiography and optical coherence angiography. To our knowledge we describe retinal hemangiomas in VHL disease with the optical coherence tomographical angiography (OCTA) for the first time. CONCLUSION: OCTA is suitable as a new non-invasive method to visualize retinal hemangioma without intravenous contrast agent.

Generalized lymphadenopathy and 18-fluorine fluorodeoxyglucose positron emission tomography/computed tomography: targeting diagnostic intervention, characterizing disease extent, and assessing treatment efficacy in syphilis.

18-Fluorine fluorodeoxyglucose positron emission tomography/computed tomography (PET/CT) has been shown to have use in the diagnosis of inflammatory and infectious diseases in addition to its primary use in cancer. We describe a case of early neurosyphilis that initially presented as symmetric, generalized lymphadenopathy on PET/CT. We conclude that PET/CT may play a role in evaluating targeted diagnostic interventions, disease extent, and treatment efficacy for disseminated syphilis.

Sudden loss of vision--investigation and management.

BACKGROUND: Sudden vision loss usually requires urgent ophthalmic assessment. Diagnosis and management requires the judicious use of a wide range of serological and imaging investigations to guide appropriate treatment and referral. OBJECTIVE: This article follows on from the previous discussion of the role of history and examination to discuss the appropriate investigation and management of common causes of sudden visual loss. DISCUSSION: The key historical and examination findings have now been extracted and synthesised and these inform the next step. The general practitioner must now decide upon the most appropriate and timely investigation pathway or the need for, and urgency of, referral.

Characteristics of pellet injuries to the orbit.

PURPOSE: To investigate the features of orbital injuries by pellets fired from the front. DESIGN: Retrospective, 4 cases of pellet injuries. METHODS: Five orbits of 4 patients who sustained pellet injuries received from the front were reviewed retrospectively. The course of injury and results were assessed. Radiological examinations were reviewed. The patients were evaluated between December 1996 and June 2004. RESULTS: Five orbits of 4 patients sustained injuries caused by pellets fired from an anterior direction. The globe in the injured orbit was intact in 2 cases. Severe loss of vision was also present in these 2 globes due to optic nerve involvement. Final visual acuity was down to no light perception in 4 eyes and limited to light perception in 1 eye. CONCLUSIONS: The prognosis of orbital pellet injuries is, unfortunately, poor. A pellet passing through the floor of the orbit often causes double perforation of the globe and, once in the orbital aperture, it travels towards the apex as a result of the conical shape of the orbit and lodges in the optic canal or its entrance, severely damaging the optic nerve. Surgery or other treatments are usually unsuccessful. Even if the globe is intact, vision is usually severely impaired.

Technical considerations of endoscopic septostomy using a biportal approach in a case of hydrocephalus associated with tuberous sclerosis.

INTRODUCTION: We report herein the technical considerations for endoscopic septostomy in a case of hydrocephalus associated with tuberous sclerosis. CASE REPORT: A 17-year-old boy presented with visual and gait disturbances. Computed tomography revealed an intraventricular mass obstructing the foramen of Monro bilaterally and marked hydrocephalus. First, we planned a ventriculo-peritoneal shunt with endoscopic septostomy using a biportal approach to resolve the hydrocephalus. Guidance by a rigid endoscope inserted into the anterior horn of the left lateral ventricle allowed us to easily and safely perform septostomy using the fiberscope inserted into the anterior horn of the right lateral ventricle. CONCLUSION: A biportal approach such as the dual endoscopic technique is useful in the treatment of complicated intraventricular lesions with loss of midline structures.

Changes of cognition and regional cerebral activity during acute hypoglycemia in normal subjects: A H2 15O positron emission tomographic study.

Blurred vision and cognitive difficulties are prominent symptoms during acute insulin-induced hypoglycemia. Our hypothesis was that changes in cerebral activity reflect these symptoms. Positron emission tomography (PET) with oxygen-15-labelled water was used to measure relative changes in regional cerebral blood flow (rCBF) as a marker of cerebral activity. Hypoglycemia was induced by intravenous insulin infusion in 19 healthy men performing two different cognitive tasks of varying complexity. The hypoglycemic stimulus [plasma glucose 2.2 mmol/liter (0.4)] produced a significant hormonal counterregulatory response. During the low cognitive load, rCBF decreased in response to hypoglycemia in a large bilateral area in the posterior part of the temporal lobe, and rCBF increased bilaterally in the anterior cingulate gyrus, the right frontal gyrus, the fusiform gyrus, thalamus, and the left inferior part of the frontal gyrus. During the high cognitive load, rCBF decreased bilaterally in a large region in the posterior part of the temporal gyrus and increased in the left and right anterior cingulate gyrus, left and right frontal gyrus, right parahippocampal and lingual gyrus, and left superior temporal gyrus. Visual impairment during hypoglycemia was associated with deactivation in the ventral visual stream. The anterior cingulate gyrus was activated during hypoglycemia in a load-dependent manner. Areas on the frontal convexity were differentially activated in response to the cognitive load during hypoglycemia. Our findings suggest that hypoglycemia induces changes in sensory processing in a cognition-independent manner, whereas activation of areas of higher order functions is influenced by cognitive load as well as hypoglycemia.

Chiasmal and/or optic nerve apoplexy due to rupture of vascular malformation--case report--.

An 8-year-old boy presented with a rare case of optic nerve apoplexy caused by an arteriovenous malformation (AVM) manifesting as severe headache and blurred vision. Computed tomography (CT) showed a hyperdense suprasellar mass. Magnetic resonance (MR) imaging indicated a hematoma in the right optic nerve. MR angiography showed normal vessels. Right fronto-temporal craniotomy identified an aggregate of abnormal, nidus-like vessels adhering to the medial surface of the swollen right optic nerve and a drainer-like ectatic red vein. The diagnosis was probable AVM. To avoid optic nerve damage, the malformation was left intact. Two years later, the boy was readmitted with headache. CT showed bleeding, and angiography revealed feeder arteries and nidus in the suprasellar lesion. The diagnosis was optic nerve apoplexy due to AVM. His symptoms improved without intervention within days. He has not experienced any recurrence of the bleeding for 2 years.

Compressive optic nerve atrophy resulting from a distorted internal carotid artery.

An 18-month-old female with right compressive optic nerve atrophy caused by an ipsilateral distorted internal carotid artery is reported. She was referred to an ophthalmologist at 8 months of age with the complaint of unilateral visual loss. Neuroimaging studies should contribute markedly to the determination of the causes of visual problems in young children.

D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?

D-2-Hydroxyglutaric aciduria has been observed in patients with extremely variable clinical symptoms, creating doubt about the existence of a disease entity related to the biochemical finding. An international survey of patients with D-2-hydroxyglutaric aciduria was initiated to solve this issue. The clinical history, neuroimaging, and biochemical findings of 17 patients were studied. Ten of the patients had a severe early-infantile-onset encephalopathy characterized by epilepsy, hypotonia, cerebral visual failure, and little development. Five of these patients had a cardiomyopathy. In neuroimaging, all patients had a mild ventriculomegaly, often enlarged frontal subarachnoid spaces and subdural effusions, and always signs of delayed cerebral maturation. In all patients who underwent neuroimaging before 6 months, subependymal cysts over the head or corpus of the caudate nucleus were noted. Seven patients had a much milder and variable clinical picture, most often characterized by mental retardation, hypotonia, and macrocephaly, but sometimes no related clinical problems. Neuroimaging findings in 3 patients variably showed delayed cerebral maturation, ventriculomegaly, or subependymal cysts. Biochemical findings included elevations of D-2-hydroxyglutaric acid in urine, plasma, and cerebrospinal fluid in both groups. Cerebrospinal fluid gamma-aminobutyric acid was elevated in almost all patients investigated. Urinary citric acid cycle intermediates were variably elevated. The conclusion of the study is that D-2-hydroxyglutaric aciduria is a distinct neurometabolic disorder with at least two phenotypes.

[Vision disorders as the first symptom of cerebrovascular insufficiencycaused by the changes in the carotid arteries. Studies using the transcranial Doppler ultrasonic apparatus TC2-64B]. / Zaburzenia widzenia jako pierwszy objaw niedostatecznosci ukrwienia mózgu spowodowanego zmianami w tetnicach szyjnych. Badania przy zastosowaniu transcranial Doppler TC2-64-B.

Investigations were carried out in 25 patients with carotid arteries changes. A 2 MHz head was used. Direction of the flow, the average speed and index of pulsation were determined. The results were compared with examinations in 13 healthy subjects. Disturbances of vision were shown by 11 patients (44 p.c.). A normal direction of blood perfusion was observed in 8 arteries (25 p.c.), a reversed one in 22 (69 p.c.), in 2 patients no Doppler's signal could be obtained. In arteries with a reversal flow of blood the authors observed the maximal mean speed and the lowest pulsation index. In neither case did the ophthalmological examinations reveal any embolic material. It seems that visual disturbances in patients with carotid arteries changes may be caused by a change of direction of the blood flow from a normal to a reversed one.