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PubMed1985

Simultaneous recording of pattern electroretinogram and visual evoked responses in neuro-ophthalmologic disorders.

Simultaneous pattern electroretinograms (P-ERG) and pattern visual evoked potentials (P-VEP) to transient and steady-state checkerboard pattern reversal were recorded in 52 normal volunteers. Twenty-seven patients were also studied. Three patterns of abnormalities emerged. Pattern 1 with prolonged P-ERG, prolonged P-VEP, and normal retino-cortical time (RCT) was found exclusively in early maculopathies. Pattern 2 with normal P-ERG, prolonged P-VEP, and prolonged RCT was found in optic nerve lesions without optic atrophy, probably indicating the presence of a demyelinating lesion of the optic nerve. Pattern 3, with very small or absent P-ERG and P-VEP, was observed in both maculopathies and optic atrophies.

Adult↗
PubMed2002

Ophthalmic complications of slit-ventricle syndrome in children.

OBJECTIVE: To present the ophthalmic features and visual prognosis of patients with slit-ventricle syndrome (SVS). DESIGN: Observational case series. PARTICIPANTS: Six patients diagnosed and treated with SVS at the Montreal Children's Hospital between 1985 and 1999. METHODS: Patients were included in this study if they had an appropriate ophthalmologic follow-up and if they fulfilled the criteria for the diagnosis of SVS based on intracranial pressure monitoring and neuroimaging studies. MAIN OUTCOME MEASURES: Features studied included patients' baseline ophthalmologic evaluation, visual outcome, and neurosurgical characteristics. RESULTS: The follow-up ranged from 1 to 14 years. The average number of shunting procedures was 3.7. Ocular examination performed on the initial visit revealed a normal visual acuity in four patients, esotropia in three of six patients, and nystagmus in two of six patients. Cycloplegic refraction was normal in all the subjects. Initial funduscopic evaluation revealed optic atrophy in a 4-month-old infant, whereas two children developed optic atrophy later in the course of the disease. One child developed severe visual field defects. The two children with optic atrophy had moderate to severe loss of visual acuity associated with SVS. CONCLUSIONS: A prompt recognition of patients with SVS is crucial, because these individuals are at an increased risk for significant visual loss.

Cerebral Ventricles↗
PubMed2006

Quantification of retinal nerve fiber layer thickness reduction associated with a relative afferent pupillary defect.

BACKGROUND: A relative afferent pupillary defect (RAPD) is known to develop only when more than 25% of retinal ganglion cells are ablated in monkeys' eyes. However, there was no prior study to estimate biometrically the degree of retinal nerve fiber layer (RNFL) thickness reduction leading to the development of RAPD in live human eyes. The purpose of this study was to examine the correlation between the amount of RNFL thickness reduction and the depth of a clinically detectable RAPD in patients with unilateral optic atrophy. METHODS: Enrolled were 20 patients with optic atrophy of various etiologies. We quantified RAPD by performing the swinging flashlight test with log-scaled neutral density filters placed over the unaffected eye. Average RNFL thickness was measured by OCT3000 with the average RNFL thickness program. Linear regression analysis was used in assessing the relationship between RAPD and the ratio of affected to unaffected average RNFL thickness. RESULTS: The mean of average RNFL thickness was 95.6+/-17.3 microm in the unaffected eyes and 50.7+/-19.3 microm in the affected eyes (P<0.001). Regression analysis between RAPD and the ratio of affected to unaffected average RNFL thickness revealed a correlation coefficient R2=0.48 (P=0.0007). The regression line intersected the y-axis at 0.77. CONCLUSIONS: RAPD was not clinically detected until at least approximately 25% of the retinal nerve fibers were lost when compared with the unaffected eyes. Substantial retinal ganglion cell damage is required for the development of RAPD.

Adolescent↗
PubMed1995

[Hereditary optic nerve atrophy. A clinical-genealogical status over Danish families with Leber disease].

An update on Leber's hereditary optic neuropathy (LHON) in Denmark disclosed 32 families with at least one live affected member, or recent disease onset (Table 1). Mitochondrial DNA analysis in the 30 families available for blood sampling identified the pathogenic mutation in all of them: ND4/11778 (26 families), ND1/3460 (three families), and ND6/14484 (one family). A previous distinct male dominance (sex ratio 4.6:1 in 157 ND4-patients with onset before 1968) seems to level (sex ratio 2.6:1 in 69 ND4-patients with onset in 1968 or later). Among possible explanations, we discuss improved diagnostic abilities and possible changes in women's alcohol consumption and smoking habits.

Adolescent↗
PubMed2000

A DIDMOAD syndrome family with juvenile glaucoma and myopia findings.

We present here two DIDMOAD syndrome cases (Diabetes Mellitus, Diabetes Insipidus, Optic Atrophy, Deafness) in a Turkish family. In the examination of the propositus who had consanguineous parents, diabetes mellitus, diabetes insipidus, optic atrophy, and deafness were observed in addition to myopia, juvenile glaucoma, posterior polar cataract, and dilatation of the urinary tract. Diabetes mellitus, diabetes inspidus, optic atrophy, deafness, myopia, and ventricular septal defect were observed in his elder brother. Juvenile onset diabetes mellitus, congenital glaucoma, deafness, and heart disease were the other remarkable findings observed in relatives to this family. Juvenile glaucoma, posterior polar cataract observed in our propositus, and myopia in both our DIDMOAD syndrome cases are the first ophthalmic manifestations described in the DIDMOAD syndrome.

Adolescent↗
PubMed2006

Ophthalmic findings in Apert's syndrome after craniofacial surgery: twenty-nine years' experience.

PURPOSE: To survey the spectrum of ophthalmic morbidity in Apert's syndrome after craniofacial surgery. DESIGN: A retrospective study of patients with Apert's syndrome managed at the Australian Craniofacial Unit from 1975 to 2004. PARTICIPANTS: Sixty-one patients (31 females and 30 males) had final ophthalmic reviews at a mean age of 9.3 years (standard deviation, 9.2; range, 0.2-48.3; median, 8.2 years). METHODS: Patients were identified from the unit database, and case notes were reviewed. Cases that had < or =2 recorded variables were excluded. Demographic details, age at last ophthalmic review, and total craniofacial operations performed were documented. MAIN OUTCOME MEASURES: Best-corrected visual acuity, cycloplegic refractions, strabismus, amblyopia, corneal abnormality, fundoscopic findings, and visually evoked potentials. RESULTS: The average number of craniofacial operations performed was 2 (range, 1-4; median, 2). Visual impairment was found in 54% of patients in at least one eye and in 19% of patients in their better eye. The most common cause was amblyopia, with a prevalence of 35%. Optic atrophy caused visual impairment in 5% of patients and corneal scarring in 8%. Sixty-three percent of patients had strabismus with more esotropia than exotropia. Ametropia was found in 69% of patients (42% were hypermetropic and 27% were myopic). Anisometropia of > or =0.75 diopters was present in 16 cases (50%). CONCLUSIONS: Visual impairment is a common finding in Apert's syndrome and amblyopia is the major cause. Ametropia, astigmatism, anisometropia, and strabismus frequently occur in patients with Apert's syndrome at final ophthalmic review. Although optic atrophy was the major cause of visual loss in the era prior to craniofacial surgery, the prevalence of optic atrophy is low since the adoption of current surgical protocols. Corneal damage also contributed toward visual impairment. Early detection and adequate management of amblyopia, timely decompressive surgery before the presence of optic atrophy, and protection of the cornea should be the management goals of ophthalmologists in craniofacial units managing these patients.

Acrocephalosyndactylia↗
PubMed1987

The differential effect of optic nerve disease on pattern and focal electroretinograms.

We studied nine cases of retrobulbar neuritis with confirmed multiple sclerosis and six cases of optic atrophy from other causes. Pattern and focal electroretinograms (macular ERGs) were recorded with high (400 cd/m2) and low (40 cd/m2) intensity stimuli. Contrast sensitivity was also measured with a simple printed test. Luminance was not markedly important. High spatial frequency contrast sensitivity was significantly correlated with pattern ERG amplitude. Pattern and focal ERG amplitude ratio was usually reduced, but the effect was not correlated with contrast sensitivity or large enough to be useful clinically. In optic atrophy the pattern ERG (PERG) was clearly more severely reduced than the focal ERG (FERG). In retrobulbar neuritis both ERGs were equally and more severely reduced even though the visual losses were less. In unilateral cases the PERG increased then decreased after the initial attack, as previously described (Arden et al., 1982). The results suggest that retinal layers beyond the ganglion cells may be affected in retrobulbar neuritis, but proximally generated, pattern-specific ERG components are selectively lost in optic atrophy.

Electroretinography↗
PubMed1999

Gradual painless visual loss: chronic optic neuropathies.

The clinician must be the ultimate medical detective when dealing with chronic optic neuropathies. History taking is crucial. Clinical examination may require supplementation with visual field testing, fluorescein angiography, ocular and orbital ultrasound imaging, CT and MR imaging, blood test data, and cerebrospinal fluid or tissue biopsy data to determine the specific diagnosis. This supplementation is labor-intensive and time-consuming; the visual loss usually will progress throughout the process, frustrating and frightening the patient and physician. The final common pathway is gradual optic atrophy; the appearance of the optic nerve is rarely adequate to determine the cause of the visual loss. This article includes tables that review diagnostic aids and therapies, and lists the frequency with which several disease entities were encountered over 15 years in one tertiary care neuro-ophthalmic practice. If a specific cause is discernible, then a specific therapy may be available. This approach has the best chance of saving the patient's vision with the least toxicity caused by erroneous trials. By necessity, the work-up for these patients is expensive, but the cost of not pursuing the cause is irrevocable, permanent blindness.

Aged↗
PubMed2004

Outcome in patients with profound biotinidase deficiency: relevance of newborn screening.

Profound biotinidase deficiency (PBD) is an autosomal recessively inherited disorder of biotin metabolism, which can be detected by newborn screening and treated with biotin supplementation. Children were investigated in whom PBD was detected by newborn screening and who were treated presymptomatically, or who were not screened but were diagnosed and treated after experiencing initial clinical symptoms (symptomatic children). In a follow-up of our study group, differences in development, social and behavioural adaptation, and signs of residual impairment were examined. Parents and physicians of children with PBD completed questionnaires which included the Child Behavior Checklist and Vineland Adaptive Behavior Scales. Information was obtained for 37 children (24 males, 13 females; median age at recruitment 6 years 8 months, range to 6 months-20 years; median length of follow-up 6 years 6 months, range 5 months to 18 years 3 months). All 11 symptomatic children had residual enzyme activity of <1%, or variants of the Michaelis-Menten constant which were not detected by newborn screening. Some symptomatic children showed residual impairments: hearing impairment (n=2), optic atrophy (n=2), both hearing impairment and optic atrophy (n=2). In addition, symptomatic children had a higher risk of delayed motor and speech development. No child with PBD detected by newborn screening (n=25) had auditory or visual loss; and milestones of speech development and motor skills were reached at an appropriate age. There was no significant difference in social adaptation or behavioural problems between symptomatic and asymptomatic children. Symptomatic children often have developmental delay and are at risk of irreversible damage to auditory, visual, or central nervous functions; whereas children with PBD (established presymptomatically following newborn screening) treated with biotin supplementation, do not experience these effects.

Adaptation, Psychological↗
PubMed1977

[Chiasmal syndromes (author's transl)].

Chiasmal syndromes (characterized by bitemporal field defects, decrease of vision and simple optic atrophy) are not only caused by tumors within the chiasmal region, but also occur in inflammatory, toxic, demyelinizing and hereditary-atrophic processes of the chiasm, respectively the optic nerve. In the presence of classic bitemporal visual field defects the probability of a tumor within the sellar region is very great. Apart from the most frequent pituitary adenoma one has to consider the craniopharyngioma, the meningioma of the tuberculum sellae, the olfactory meningioma and the meningioma of the sphenoid wing. The specific symptomatology of these sellar, supra- or parasellar tumors is discussed. In the presence of atypical or incipient bitemporal visual field defects, as they occur also in the early stages of tumors of the chiasmal region, one has first of all to exclude all other possible causes for such field defects such as refraction scotomas, tobacco-alcohol-amblyopias, dominant hereditary optic atrophies, the uni- or bilateral optic neuritis and the intoxications of the optic nerves. In the differential diagnosis of tumors of the sellar region one has to consider infra- and supraclinoidal aneurysms, tumors of the chiasm (gliomas of the chiasm), the distant effect of a hydrocephalus of the IIIrd ventricle on the chiasm and the optochiasmatic arachnoiditis.

Adenoma↗