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PubMed1992

Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients.

We report the clinical, electrophysiologic, ophthalmologic, and neuropsychologic features of six patients with hyperammonemia-hyperornithinemia-homocitrullinuria syndrome, an inborn error of ornithine metabolism. Pyramidal signs, decreased vibration sense, bucco-facio-lingual dyspraxia, and learning difficulties or subnormal intelligence were found in the majority. Anomalies of peripheral nerve conduction velocity and of evoked potentials were common, and one patient had markedly abnormal white matter images on cranial magnetic resonance imaging. One patient had retinal depigmentation and chorioretinal thinning. The clinical severity varied greatly among patients; in general, the three younger patients had less neurologic and intellectual impairment than did the three older patients. Only two of our patients have had episodes of symptomatic hyperammonemia. We conclude that hyperammonemia-hyperornithinemia-homocitrullinuria syndrome can be associated with widespread manifestations in the central and peripheral nervous systems. Although the control of hyperammonemia is an essential element in the treatment of these patients, the relationship of hyperammonemia to the chronic neuropsychologic problems of these patients is unclear.

Adolescent↗

PubMed1991

Ophthalmologic aspects of headache.

Pain around the eye can be caused by local ophthalmic disorders or by disease of other structures sharing trigeminal nerve sensory innervation. In general, most ocular causes for pain also cause the eye to be red, thus alerting the examiner to the focality of the problem. However, conditions like eyestrain, intermittent angleclosure glaucoma or neovascular glaucoma, and low-grade intraocular inflammation can be painful and not be associated with obvious redness. Ocular signs and symptoms also occur with numerous other causes of headache. Double vision in association with periocular pain can result from orbital lesions, isolated cranial neuropathies, and cavernous sinus lesions. Pupillary abnormalities like Horner's syndrome may result from a variety of painful conditions, including cluster headache, parasellar neoplasms or aneurysms, internal carotid dissection or occlusion, and Tolosa-Hunt syndrome. Pain with a dilated and unreactive pupil may reflect a benign condition like Adie's syndrome or ophthalmoplegic migraine, or it may herald the presence of a life-threatening posterior communicating artery aneurysm. Headache and transient visual loss can be manifestations of classic migraine, or be symptoms of ocular hypoperfusion from ipsilateral internal carotid occlusion or increased intracranial pressure from pseudotumor cerebri. In a young patient, head pain with a fixed visual deficit may result from optic neuritis, in an older adult, temporal arteritis may be the culprit. Ophthalmologic aspects of headache thus encompass problems that range from simple and benign to complex and formidable.

Eye Diseases↗

PubMed2003

Medical imaging in pediatric ophthalmology.

The use of CT and MR imaging has improved the understanding of many congenital and acquired conditions in pediatric ophthalmology, resulting in more appropriate therapeutic intervention and giving insight into the pathogenesis of these conditions.

Child↗

PubMed1993

Common pediatric neuro-ophthalmologic conditions.

Neuro-ophthalmologic problems are some of the most distressing ocular conditions to affect children. In this article the author discusses the differential diagnosis and management of blindness during the first year of life. Nystagmus or 'jiggling eyes' tumors of the visual pathways and acquired ocular motor neuropathies comprise the balance of the article.

Blindness↗

PubMedDate not supplied

Non-ophthalmologic findings of the Diabetes Control and Complications Trial.

The Diabetes Control and Complications Trial (DCCT) was a large and rigorously conducted trial which definitively established that longterm hyperglycemia causes longterm diabetic complications. In this review the author considers the non-ophthalmologic results of the DCCT and the applications of these findings to current and future care of diabetic patients. It is concluded that people with diabetes do not need to anticipate a future of diabetic complications, and that improved glycemic control can be achieved through the education and cooperation of physicians, patients, and health care payers.

Clinical Trials as Topic↗

PubMed2001

Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase.

OBJECTIVE/PURPOSE: To investigate clinical variation in a genetically homogenous group of subjects with gyrate atrophy of choroid and retina with hyperornithinemia (GA). The group was made up of homozygotes and compound heterozygotes for mutation L402P in the ornithine aminotransferase (OAT) gene. DESIGN: Cross-sectional study. PARTICIPANTS: Thirty-five Finnish subjects (18 men) with GA with a mean age of 33 years (range, 5-74 years) carrying the Finnish founder mutation L402P. METHODS: All subjects were examined between 1993 and 1995. The analysis was composed of, in addition to careful clinical evaluation, studies of visual fields with Goldmann perimeter, photographing of the eye fundi, and corneal electroretinography (ERG) recordings. MAIN OUTCOME MEASURES: The changes in eye fundi, visual acuity, cataract changes in the lens, visual field constriction, and ERG responses were determined. RESULTS: Myopia, early cataracts, and highly abnormal ERG were typical for the GA subjects. The changes progressed rather uniformly with age. However, visual acuity, funduscopic findings, and visual fields showed great phenotypic variation. Despite the great interindividual variation, both eyes of each subject were always similarly affected. CONCLUSIONS: This study of 35 subjects with GA carrying a single mutation shows that the ophthalmologic symptoms and findings vary widely. The data also reveal that GA subjects are already affected by severe visual impairment in young adulthood. However, the diagnosis is often made very late.

Adolescent↗

PubMed2003

Ophthalmologic involvement in the syndrome of headache, neurologic deficits, and cerebrospinal fluid lymphocytosis.

PURPOSE: To emphasize that papilledema and other ophthalmic manifestations may occur in the syndrome of headache, neurologic deficits, and cerebrospinal fluid lymphocytosis (HaNDL). DESIGN: Two interventional case reports. METHODS: Two patients were seen with ophthalmologic findings, including decreased vision, papilledema, sixth nerve palsy, and a variety of neurologic deficits. Each underwent cerebrospinal fluid analysis and intracranial pressure measurement by spinal tap and neuroimaging studies to confirm the diagnosis of HaNDL. RESULTS: Both patients received acetazolamide to lower intracranial pressure. The first patient had complete resolution of signs and symptoms. The second, who was also given systemic corticosteroids, was left with diminished visual acuity in the right eye with nasal visual field loss and optic atrophy. CONCLUSIONS: The diagnosis of HaNDL is one of exclusion, which must be made in conjunction with a neurologist. HaNDL may be accompanied by elevated intracranial pressure and papilledema. As in other disorders causing papilledema, these patients may have permanent visual sequelae. Recognition by the ophthalmologist of this rarely reported syndrome will facilitate prompt patient diagnosis and treatment.

Abducens Nerve Diseases↗

PubMed1979

Neuro-ophthalmology update.

One source of ophthalmologic concern today is the normal computed tomography (CT) scan. The most important tests in any patient with visual loss are the history, fields, and office visit findings. A visual field examination should be obtained before a CT scan. The importance of aiming the CT machine by the history is stressed, and conservative approach to optic nerve sheath meningiomas is advised.

Adult↗

PubMed1987

Ophthalmologic manifestations of X-linked childhood adrenoleukodystrophy.

The ophthalmologic findings in 15 patients with childhood adrenoleukodystrophy (ALD) are reviewed. In this X-linked demyelinating disease with adrenal dysfunction, relentlessly progressive visual loss followed by optic atrophy occurs months to years after the diagnosis is established based on neurologic symptoms and biochemical abnormalities. Visual loss is mainly due to central nervous system (CNS) demyelination involving the visual tracts, but primary retinal ganglion cell degeneration may also be operative. All patients in this study were male. Vision ranged from 20/20 to no light perception (NLP). All but one patient with bilateral cataracts had normal anterior segment examinations. Seven patients had exotropia, and esotropia developed in one patient. Electroretinography (ERG) and electrooculography (EOG) findings were normal in two patients with severe visual loss. Macular pigmentary changes were observed in three patients. Optic pallor was noticed in seven patients. Optic nerve hypoplasia was seen in one patient. Visual-evoked responses were abnormal in two patients and borderline in one. Progressive visual field abnormalities were noticed in three patients, large field cuts in two patients, and normal fields in another two patients. The diagnosis of ALD should be considered in all boys presenting with unexplained visual loss, dementia, and adrenal dysfunction.

Adolescent↗

PubMed1992

Ophthalmologic assessment of young patients with Alport syndrome.

BACKGROUND: Alport syndrome is an X-linked disease affecting basement membrane collagen. It is characterized by nephritis associated with high-tone sensorineural hearing impairment and ophthalmic signs. Although ocular changes have been described in adults, few data exist regarding the incidence of abnormal ocular features in adolescence and childhood. METHODS: Fifteen male and five female patients with Alport syndrome underwent ophthalmologic, audiologic, and nephrologic assessments. All patients studied had hematuria and a positive family history of Alport syndrome. Thirteen patients had a renal biopsy that showed characteristic electron microscopic changes of the disease. Eleven patients had high-tone sensorineural impairment. Electrophysiologic investigations performed included electroretinography, visual-evoked potentials, and electro-oculography. RESULTS: Two patients had early signs of anterior lenticonus, three had flecks in the retina, and two patients also had posterior subcapsular cataracts. None of the patients had significant electrophysiologic abnormalities. CONCLUSION: These findings indicate that ocular changes are uncommon and subtle in young patients with Alport syndrome, and suggest that the signs increase in frequency and severity with age.

Adolescent↗

PubMed1992

High-pass resolution perimetry in neuro-ophthalmology. Clinical impressions.

High-pass resolution perimetry is a new technique for visual field testing that determines extrafoveal resolution thresholds. The authors used this method in a neuro-ophthalmology clinic and compared it with other visual field tests. The main advantages of the technique were the short test time and the strong preference by patients for this technique over conventional automated perimetry. The sensitivity and specificity of the test seemed to be as good as or better than conventional perimetry. A minor disadvantage was its slightly less precise spatial definition of field defects. In this report, the authors present their experiences with this new perimetric technique.

Adult↗

PubMed2004

[Up-dated ophthalmological screening and follow-up management for long-term antimalarial treatment].

The early detection of macular toxicity linked to long-term antimalarial treatment requires regular ophthalmological screening based on patients'classification based on their results compared to successive controls. Patients are classified as "low risk" with screening every 18 months if all of the following criteria are met: age under 65 years, no associated renal, hepatic or retinal disease, treatment for less than 5 years, dose less than or equal to 6,5mg/kg/d for hydroxychloroquine and 3mg/kg/d for chloroquine (for a lean patient's weight); "at risk, without fundus findings" with screening every 12 months if one of the following criteria is met: age over 65 years (at the start of or during treatment), antimalarial treatment for more than 5 years, daily dose higher than recommended, presence of renal and/or hepatic disease; "at risk, with fundus findings" with screening every 6 months if a retinal dysfunction has been detected and even if treatment is established or followed. Screening consists of an in-depth clinical examination and at least two complementary tests of macular function: color vision (desaturated-Panel-D15 test) and/or static macular perimetry (central 10 degrees) and/or macular electroretinography (pattern ERG/multifocal ERG). If any changes or anomalies are found between two successive check-ups, the state of the retina can be assessed by angiography and global retinal function by full-field-ERG and electro-oculogram (EOG). The progression from one check-up to the next decides whether a course of treatment will be followed.

Antimalarials↗

PubMed2005

[Postoperative endophthalmitis: 2000-2002 results in the XV-XX National Ophthalmologic Hospital].

PURPOSE: Prevention of nosocomial infection is a priority for the Infection Control Committee (ICC). Following their recommendations, the XV-XX National Ophthalmologic Hospital's ICC conducted a survey on cases of infection and we report these results for the 2000-2002 period. METHODS: During the 2000-2002 period, 21,384 programmed intraocular surgeries were done. Every day, a hygiene coordinator was informed of each bacterial or fungal laboratory test on intraocular samples and for all patients who were hospitalized for endophthalmitis. After data analysis with a referent ICC physician, resulting infection was declared postoperative nosocomial endophthalmitis. For these patients, prophylactic antibiotic use, the surgery report, and bacterial laboratory test results were reviewed. RESULTS: The overall 3-year incidence of suspected postoperative endophthalmitis after intraocular surgery was 2.0 per 1000 (42 cases). Confirmed microbiological growth was demonstrated in 19 cases (45%). For cataract surgery, the incidence was 1.0 per 1000 for acute-onset culture-proven postoperative endophthalmitis, 0.1 per 1000 for delayed culture-proven postoperative endophthalmitis, 2.1 per 1000 for acute-onset suspected postoperative endophthalmitis and 0.5 per 1000 for delayed suspected postoperative endophthalmitis. Gram-positive cocci were isolated in 77%. Twenty-one patients received systemic prophylactic antibiotics. Bacterial growth was positive in five of these 21 cases. For two cases, organisms were resistant to the prophylactic antibiotics used. CONCLUSION: Monitoring postoperative nosocomial infection is mandatory to detect incidence variation and evaluate infection control management. Prophylactic antibiotic efficacy remains to be evaluated.

Adult↗

PubMed1982

Antimalarials and ophthalmologic safety.

Antimalarial drugs were shown to be useful agents in the treatment of discoid and systemic lupus erythematosus in 1951. However, by 1966, fear of retinal toxicity and the availability of alternative therapies had led to limited use of antimalarials. Continued experience with these alternative therapies has made their intrinsic, sometimes devastating toxicities more evident and has contributed to the renewed interest in antimalarial agents evident in the number of comprehensive reviews appearing recently in the dermatology literature. Many of these reviews, while generally excellent, have propagated some apparent misconceptions by disregarding or de-emphasizing data suggesting that irreversible retinal toxicity due to antimalarials can be easily avoided by judicious daily dosage and regular ophthalmologic follow-up. This article will discuss the historical basis of these misconceptions and the subsequent studies which suggest that antimalarial retinal toxicity can be avoided without sacrificing the therapeutic efficacy of these agents.

Antimalarials↗

PubMed2000

[Assessment of ophthalmologic control of the diabetic patient in primary care].

OBJECTIVE: To evaluate ophthalmic control in patients with diabetes mellitus (DM) in primary care (PC). DESIGN: Crossover observation study. SETTING: Hellín Health Centre (Albacete). PATIENTS: 137 diabetics selected at random, excluding pregnant women and children under 14. MEASUREMENTS AND MAIN RESULTS: The variables of age, sex, type of diabetes (DM1/DM2), years of evolution, ophthalmic control and appearance of diabetic retinopathy (DR) were studied. Mean age was 68.5 +/- 10.9 years. 52% were women (n = 72). 88% had DM2 (n = 121). Time of evolution from diagnosis was < 5 years in 46% (n = 63), 6-10 years in 23% (n = 32), 11-15 years in 14% (n = 19), > 15 years in 5% (n = 7) and nothing was recorded for 12% (n = 16). 41% (n = 56) of the patients had not had an ophthalmic evaluation. Of the 59% (n = 81) referred to the ophthalmology out-clinic (OOC), 65 patients followed recommendations of the Spanish Society of Retina and Vitreous Humour, and 16 were referred for other reasons, of which cataracts was the most common eye pathology. Of these 81 patients referred to the OOC, 29% did not have DR (n = 23), and 44% did (n = 36). Of this 44%, 14 were light, 15 moderate, 3 severe and 4 proliferating cases. The reports were not sent back to PC in 27% of cases (n = 22). CONCLUSIONS: Ophthalmic referral in PC is still deficient for a large number of DM patients. DR of varying degrees was detected in a high number of cases who did have an ophthalmic check-up. Communication between PC and ophthalmic care concerning diabetic patients must improve.

Aged↗

PubMed1997

Ultrasound in ophthalmology.

The first ocular echogram was published in 1956. Since then, ophthalmic ultrasound has developed into a multifaceted diagnostic discipline, the basic methods being A-scan and B-scan, Doppler techniques and recently also three-dimensional approaches. Unique for ophthalmology is the newly invented, highly resolving equipment utilising ultrasound frequencies of 50 MHz and higher, so-called ultrasound biomicroscopy. During this development, the special ophthalmic items often kept colleagues from other fields at some distance. With a view to a fair balance between specific and more general information, the primary aim of the present overview is to provide insight for other medical branches employing diagnostic ultrasound. Regarding intraocular morphology, ultrasonic evaluation in experienced hands is superior to other imaging methods. As for orbital pathology, imaging by CT and MR appears more complete. Ultrasound is valuable, however, in particular as part of the initial clinical work-up, and for the follow-up of orbital disease. Furthermore, tissue differentiation by way of ultrasound is of great value with regard to certain entities.

Biometry↗

PubMed1996

Diagnostic tests in neuro-ophthalmology.

This article reviews the diagnostic testing used in the evaluation of several common neuro-ophthalmologic entities including optic nerve disease, pseudotumor cerebri, anisocoria, ptosis, and ocular motor palsies. Emphasis is placed on these bedside tests that help to establish the diagnosis of these common clinical problems. The utility of the cocaine and Tensilon (edrophonium chloride) tests as well as the role of neuroimaging in these conditions are reviewed.

Brain Diseases↗

PubMed1998

Ophthalmologic aspects of thyroid-related orbitopathy.

This article explores many of the ophthalmologic aspects of thyroid-related orbitopathy. The eight main areas of clinical concern--ocular comfort, optic nerve function, exophthalmos, eyelid position, diplopia, cosmesis, soft-tissue signs, and psychologic factors--are discussed so that practitioners may be more secure in dealing with these areas and in helping patients to be more comfortable both physically and psychologically.

Eye Diseases↗