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Six OPMD families (one of five generations) confirm that the disease is autosomal dominant; mapping on chromosome 14 has been described. There is obvious anticipation of the cardinal symptoms ptosis and dysphagia. Hutchinson face is a hallmark of chronic progressive external ophthalmoplegia (CPEO), the correct diagnosis of which relies on careful history-taking and histopathology of a girdle muscle showing the rimmed vacuoles and the specific intranuclear filaments. Diet, fluid food, and early swallowing training is advised, as is the easy, hardly invasive Guyton-Friedenwald surgery for ptosis, which is adaptable during the evolution of the disease.

Age, natural history, telltale disc morphology and functional follow-up with simple efficient methods (visual acuity, pupil dynamics, visual field, desaturated color vision, contrast sensitivity frequency, flicker fusion frequencies) are important for distinguishing optic neuritis from non-arteritic anterior/posterior ischemic optic neuropathy. The diagnosis of arteritic (inflammation) from non-arteritic cases is of prime importance as the correct therapeutic approach (intravenous methylprednisolone) will save the function of the fellow nerve in arteritic ischemic optic neuropathy. The natural history and evaluation of relatively infrequent progression in non-arteritic ischemic optic neuropathy with assessment of optic nerve sheath fenestration deserve further multicenter studies.

The examination of the critical flicker fusion (CFF) in the visual field center is a helpful tool in order to differentiate amblyopia from organic diseases such as maculopathies and neuropathies. A newly developed apparatus (4F) offers a simple and fast examination: ascending as well as descending thresholds of the foveal CFF can be determined. If central fixation is maintained, the test results are well reproducible. Different conditions show different results: normal thresholds or thresholds above normal are obtained in amblyopias, whereas they are below normal in maculopathies and neuropathies. In optic neuritis, CFF depends on the stage of the disease. There is no correlation between visual acuity and CFF in different conditions.

Retinal axons are bundled at the inner disc and supplied by a specific arteriole, the arteria centralis retinae, observed in most mammals but absent in birds. These axons form the optic nerve, which pierces the choroid and sclera at the optic nerve head, where it is supplied by the ciliary system, initially irrigating also the functional complex of retinal sensors and receptors, the retinal pigment epithelium and Bruch's membrane (membrane of Ruysch), which is never supplied by the arteria centralis retinae. Behind the lamina cribrosa the nerve expands by myelination into the afferent optic nerve, with a consistent topographic distribution of the axons, surrounded by a meningeal pio-arachnoido-dural sheath, from where arterioles supply the entire retrolaminar optic nerve up to the chiasm.

Appropriate recently developed techniques are described to evaluate objectively visual acuity and hemianopia in subjects unable or unwilling to cooperate, while both temporal and spatial resolution may be subjectively assessed, resp. foveal flicker fusion frequencies (4F) and coloured contrast sensitivity frequencies (CCSF). A simple and easy to handle equipment for temporal resolution (4F) has recently been developed, as well as a new instrumental approach to CCSF (A.N. and P.V.D.E.).

In survival cases, even in the absence of loss of consciousness and (or) skull fracture, trauma, mainly to the anterior skull (forehead or convexity of the accelerated head to a stationary object and antero-posterior compression) may cause a temporary lateral deformation of the skull and result in (1) immediate loss of vision and (or) field (sector, central, heteronymous, junction scotoma) improving or not within one or several days, (2) absence of disc oedema but subsequent pallor of its nasal half, (3) afferent pupillary defect (APD), (4) possible see-saw nystagmus and (5) hypothalamic symptoms.Bisection of the chiasm due to stretching and tearing-separation is exceptional in survival cases but subclinical testing remains mandatory (desaturated colour, CSF, 4F); as the chiasm tolerates much deformation, distortion and stretching may cause only minor impairment of the midline structures. Contusion necrosis and disturbances of the intrinsic circulation of the chiasm with or without haemorrhage, due to cou...

Visual evoked potentials recorded with trioccipital electrodes may be an objective method to detect (silent) hemianopia and/or hemineglect. A statistically significant difference existed between the symmetrical responses in persons with full visual field and the lateralized responses in persons with visual field defects. Two cases of hemineglect are presented in which VEP could demonstrate a decreased response over one hemisphere.

Oculography is an excellent method to demonstrate and document subclinical ocular motility disorders and unexpected patterns of ocular movement in adaptive mechanisms. Different methods (electromagnetic coils, EOG) used for specific indications under certain conditions may provide new additional information about the pathogenesis of ocular movements and allows precise follow-up.

During the last decade several authors tried to measure visual acuity with visually evoked potentials (VEP). They had to restrict the applicability either to a limited vision range, with lower limit 5/101,2 or between 2/10 and 8/103, or to a selected patient population, eliminating macular disease, branch vein occlusion, constricted visual field and central hemorrhagic chorioretinitis. The reason was that they had an over- or underestimation of the visual acuity due to stimulation of the complete retina, which sometimes masked true insight into the problem.Using checkerboard patterns with high contrast level (84%, 80%, 60%) and a limited number of spatial frequencies (4, 5 or 6 different stimulus sizes), their methodology did not offer adequate and reliable clinical application1,4.This paper suggests the use of a more precise stimulus by decreasing the contrast level to 14% and offering a large checkerboard variety (12 sizes), enabling measurement of visual acuity with an accuracy of 1/10 (ten normal subj...

An autosomal dominant cone dystrophy-cerebellar atrophy (ADCoCA) pedigree (with symptoms of variable penetration) over five generations is described. Visual deterioration may start in early childhood and precede the cerebellar ataxia by many years, while the ophthalmo-logical as well as the neurological signs and symptoms may practically remain silent throughout life. Next to those carriers, fully unaffected members may transmit the disease. This ADCoCA is characterized initially by a tritan-colour defect and bull's eye macula, characteristic for cone dystrophy, progressing to photoreceptor dystrophy over the entire retina, with progressive extinction of the photopic and scotopic ERG (cone-rod dystrophy).Histopathology shows progressive loss of photoreceptors, degeneration of afferent and efferent cerebellar pathways, hemispheric cerebellar cortical atrophy, loss of retinal ganglion cells, trans-geniculate atrophy of the optic pathway, typical involvement and atrophy of the corpus subthalami-cum and palli...

Open-angle glaucomatous disease (OAGD)-type field loss may run in families with optic neuropathy, ganglion cell damage, and normal hydrodynamics. Recently, patients have been observed with moderately elevated intraocular pressure (IOP) and an absence of functional defects, except for disturbed foveal flicker fusion for the descending green mode, characteristic of a retinal magnoganglion cell impairment. Individuals who received no IOP-lowering treatment developed field defects later on, while those with normal foveal flicker fusion (FFF) tests for the descending green mode did not develop field changes, even without any IOP-lowering treatment. Histopathology of the complete optic pathway of advanced OAGD revealed pronounced but not total retinal ganglion cell loss. At the level of the simple ascending atrophic optic nerve, however, axons were observed with preserved myelin sheaths, proof that not all ganglion cells were lost, whereas the primary cause of total ascending optic atrophy can only be explained...

The exact involvement of each part of the basal ganglia in obtaining ocular movements has not yet been totally revealed. Comparing information of oculographic studies of patients and those of experimental studies on primates, may lead us to solve the enigma of the different components of ocular motility.A patient presenting with a multiple system atrophy consisting of a combination of olivo-ponto-cerebellar atrophy and striato-nigral degeneration showed remarkable features on oculography. Besides the typical impairment of the eye movements found in Parkinson syndromes, the patient also showed a major impairment of the vertical optokinetic nystagmus, where the vertical smooth pursuit and saccades were only slightly altered.In reviewing animal studies and through anatomopathological findings in the patient, the authors suggest that the striato-nigral system in humans is involved in eliciting vertical optokinetic nystagmus. Oculography may reveal an unexpected symptom, orienting the correct diagnosis and its...

Genuinely isolated heredo-familial optic atrophies, may be a monosystem manifestation of heredofamilial neurological syndromes with optic nerve atrophy. Modern neuro-ophthalmological collaborative investigations will allow a better classification, and correct the existing prolific confusing eponymy.

Low tension glaucoma may be a symptom of attrition of the optic nerve (negative pressure) from within the brain. Increase of intraocular pressure causes essentially similar effects: the excavation is followed later on by field defects, if conditions of compromised energy supply develop.

Minor head trauma followed by extraocular muscle palsy may be an initial sign of basal intracranial tumor. The diagnostic features and mechanisms ofsuch palsies are discussed.

A case is presented of iatrogenic gamma irradiation of the hypophysis, which was found to be normal at autopsy. The patient became blind and died from delayed radionecrosis of the chiasm and brain.

The simultaneous presence of an intrasellar adenoma and a chordoma with a ten-year interval is described. As pathognomonic for the diagnosis may be considered: intermittent diplopia, headaches, no or mild visual field involvement, absence of hypopituitarism. Pronounced elongation and thinning of the chiasm did not result in temporal hemianopia. Stretching occurred very progressively in the course of years; vascular supply was not greatly impaired.

Stellate maculopathy is a symptom of optic disc edema due to inflammatory papillitis. As a rule, it never occurs in cases of disc edema due to raised intracranial pressure. The terminology of neurogenic stellate maculopathy is suggested because the causal lesion is located at the level of the maculopapillary nerve fibers.

A case of primary empty sella syndrome is described with as presenting sign an intermittently unilateral Harris syndrome. There was a binasal visual field involvement and a bilateral deeply excavated disc, symptom of low tension glaucoma, in the absence of an abnormal intraocular hydrodynamics condition. All these symptoms may be explained by traction from the empty sella on the surrounding structures and cavernous sinus.

The heredofamilial optic atrophies may show a variability of pattern of inheritance, onset, origin or (and) evolution, may be accompanied by differents systemic and neuro-sensorial syndromes, but are named by the type of field defects (central, caecocentral, open angle glaucomatous type, peripheral arcuate). Our family B. W. is therefore to be considered as a recessive sex linked variant juvenile optic atrophy.

Two cases of superior oblique myokymia are reported, one associated with lead intoxication, the other with adrenoleucodystrophy. This is the first report of the association of superior oblique myokymia with systemic neurological diseases. However. the association may be coincidental.

The authors describe a case of extrasellar metastatic disease of the hypophyseal stalk and base of the brain presenting with hypofunction of the anterior hypophysis and diplopia, and a second case of intrasellar metastasis with diplopia in a middle-aged male with primary bronchial carcinoma and an older female with primary adenocarcinoma. In both cases the final diagnosis was revealed at autopsy.

A 62-year-old male patient (six-year follow-up) is reported presenting with night-blindness, a fundus pattern characteristic of birdshot retinopathy and subclinical ataxia due to generalized peripheral neuropathy. Although associated with HLA-A29 and B12, there was only a paravascular retinal pigment epithelial (RPE) staining indicative of prior leakage due to retinal vasculopathy. The authors consider this case as birdshot or vitiliginous retinopathy with initial silent subclinical inflammatory component, but suggest to coin the disease inner neuroretinopathy, as the probable primary topography of the lesion are the inner retinal layers.A second case concerns a 48-year-old female (nine-year follow-up) who presented initially with bilateral pars planitis and retinal vasculopathy associated with HLA-A29. After four years she developed progressively a birdshot retinopathy with nightblindness. To the authors' knowledge, this is the first case described in the literature in which a birdshot retinopathy with n...

Myelinated retinal nerve fibers may cause fluctuating functional defects. In cases of association with neuro-ophthalmological disease, functional loss due to the medullated nerve fibers and due to the concomitant disease, may be difficult to evaluate.