Downbeating nystagmus. A review of 62 cases.

We reviewed the clinical and oculomotor findings in 62 patients with downbeating nystagmus (DBN). Only those patients whose DBN was enhanced in lateral gaze were included. Apart from gait ataxia, few patients had additional neurologic signs. The two most common causes of DBN were cerebellar ectopia (25%) and cerebellar degeneration (25%) with another 10% having a variety of conditions. In about 40% the cause remained undiagnosed. In some patients with idiopathic DBN and in others with DBN due to cerebellar ectopia, the disease progressed slowly, if at all. In DBN the slow-phase velocity is dependent on vertical head position and head velocity in pitch; vertical pursuit, particularly downward pursuit, is defective and vertical vestibulo-ocular reflexes are intact. We concluded that at least some cases of DBN were due to an imbalance in otolithocular reflexes. The lesion causing DBN appears to be in the vestibulocerebellum, perhaps the nodulus, a structure that normally inhibits otolith-ocular reflexes.

Ptosis and supranuclear downgaze paralysis.

A patient developed the unusual combination of a supranuclear downward gaze paralysis and bilateral ptosis. It was caused by a single midbrain glioma. Other ocular motor functions were intact. The neuropathologic examination showed a tumor growing mainly around the third ventricle and the aqueduct. The findings agree with recent experimental evidence that a network of neural elements involved in eyelid control lies in the supraoculomotor area immediately dorsal to the oculomotor nucleus.

An improved method for the purification of retinal S-antigen using selective hydrophobic adsorption chromatography.

This paper describes the use of phenyl-Sepharose CL-4B as a solid-phase hydrophobic adsorbent in the purification of S-antigen from protein extracts of bovine, porcine and human retina. Chromatographic conditions were ascertained whereby the majority of contaminating proteins were bound to the adsorbent leaving S-antigen in the liquid phase. In combination with size fractionation on Ultrogel AcA, the method conveniently yielded porcine and bovine S-antigen preparations up to 100% purity. Immunogenicity of purified S-antigens was verified by induction of experimental autoimmune uveoretinitis in albino Lewis rats. The method is preparative in scale, fast in performance and yields S-antigen in high purity and antigenic potency.

Differential effect of Bordetella pertussis on experimental posterior uveitis in the black-hooded Lister rat.

The effect of an additional adjuvant, Bordetella pertussis, on the clinical and histopathologic features of experimental autoimmune uveitis in black-hooded Lister rats was investigated. Disease was induced by a single footpad injection of purified retinal S-antigen in Freund's complete adjuvant. In those animals that did not receive B Pertussis the clinical features were those of a retinal vasculitis with disc edema, periphlebitis, and deep retinal infiltrates. In contrast, animals that received B pertussis developed lesions in the pigment epithelium and choroid. Histopathologic studies disclosed focal photoreceptor necrosis associated with mononuclear cell infiltration in both groups of animals. However, in the group that did not receive B pertussis the disease was predominantly a retinitis associated with perivascular infiltration of retinal vessels, whereas in the group that did receive B pertussis the main feature was a focal choroiditis, with superficial retinal lesions being rarely observed. Retinal photoreceptors were the target tissue in both groups of rats, but the route by which they were damaged was altered from predominantly retinal to choroidal by the addition of Bordetella pertussis as an adjuvant. This change may be ascribed to the ability of B pertussis toxin to sensitize vascular endothelium to local mast cell products, these cells being plentiful around choroidal vessels but absent in the retinal circulation.

The retinal manifestations of mitochondrial myopathy. A study of 22 cases.

In a series of 61 patients with the morphologic and histochemical features of mitochondrial myopathy, 22 (36%) had pigmentary retinopathy. Three patterns of retinopathy were identified. Eighteen patients had a "salt and pepper" type of retinal appearance, which was usually associated with good visual function. Two had many features of retinitis pigmentosa, and two others showed generalized loss, or atrophy, of the retinal pigment epithelium and choriocapillaris. These last four patients had markedly reduced visual acuities, with optic atrophy and attenuated retinal vessels. Electroretinography and electro-oculography were performed in 11 patients. Both rod and cone mediated electroretinographic functions were subnormal in eight patients, while only cone mediated functions were depressed in the remaining three. The electro-oculographic changes were variable.

Scleral canal size and optic nerve head drusen.

From projected optic disk photographs we measured the size of the scleral canal in two samples of emmetropic patients: one of patients with unilateral pseudopapilledema and drusen and the other of the general normal population. Measurements on the non-drusen-containing optic disk of patients with unilateral drusen were taken to reflect the scleral canal size of the fellow, affected eye. For both trained (t = 6.642) and untrained (t = 4.274) observers, the average diameters of the non-drusen-containing optic disks of patients with unilateral drusen were significantly smaller than those of the optic disks of normal patients (P = .0005, one-tailed independent t-test). The association of a small scleral canal with vascular anomalies, frequently noted in optic disks of patients with drusen, indicates a mesodermal dysgenesis of the optic nerve head.

Optic disc drusen and episodic visual loss.

A case is reported in which recurrent episodes of visual loss occurred over a period of 26 years in a patient with bilateral optic disc drusen. Visual field loss was associated with episodes of ischaemic optic neuropathy. The possible mechanism is discussed.

Bilateral central scotomata due to intracranial tumour.

Bilateral centrocaecal scotomata have been recognised as a sign of intrinsic optic nerve disease, usually associated with hereditary optic neuropathy, and nutritional or toxic amblyopias. This report describes four patients with central scotomata due to intracranial masses, three of whom recovered after surgical intervention. The clinician should be alerted to the association in patients with headaches, other neurological signs, and central visual loss.

Multifocal fibrosclerosis associated with suprasellar and macular lesions.

Multifocal fibrosclerosis is a term used to denote a combination of similar fibrous disorders occurring at different anatomical sites and including idiopathic mediastinal and retroperitoneal fibrosis, sclerosing cholangitis, Riedel's thyroiditis, and orbital pseudotumour. This paper reports a patient, known to have retroperitoneal and testicular fibrosis, who suffered visual loss resulting from marked changes in the macular region of one eye and suprasellar extension of a mass in the pituitary fossa. These lesions appear to represent very uncommon manifestations of multifocal fibrosclerosis.

Atrophy of myelinated nerve fibres in the retina in optic neuritis.

Atrophy of the nerve fibres in the retina visible by direct ophthalmoscopy using red-free illumination, together with corresponding scotomata in the visual fields, signified retrograde degeneration of retinal nerve fibres from multiple sclerosis. Defects in medullated retinal nerve fibres were continous with arcuate nerve fibre bundle defects. These myelin defects exemplify secondary demyelination of optic axons.

Fundus changes in histologically confirmed sarcoidosis.

We reviewed the clinical features, natural history and visual prognosis of 26 patients with histologically confirmed sarcoidosis. Compatible chest x-ray changes were found in 75% of patients. Periphlebitis was the commonest fundus feature. Disc changes were seen in a substantial number of patients, and the condition can present as unilateral disc oedema. The disease seems primarily to involve equatorial retinal veins, and occlusions of a hemisphere branch vein or central retinal vein did not occur. Changes in the subretinal pigment epithelium were noted in a substantial number of patients but did not produce visual morbidity, and these patients seemed to have less florid periphlebitis than others. The disease has a low visual morbidity unless neovascularisation develops; the treatment of this remains controversial.

Acquired optociliary shunt vessels in papilloedema.

Seven cases are presented in which prolonged papilloedema led to the development of acquired optociliary shunt vessels. These vessels may also be found with optic nerve tumours, particularly spheno-orbital meningiomas, optic nerve drusen, glaucoma, and after central retinal vein occlusion. Two patients had intracranial tumours, 4 benign intracranial hypertension, and one Crouzon's disease. Three had marked atrophic changes of the disc. The pathophysiology of the disc changes is discussed. The triad of long-standing poor vision, acquired optociliary shunts, and optic atrophy with blurred disc margins should not be regarded as specific for spheno-orbital meningioma.

Macular changes resulting from papilloedema.

Six cases are presented with macular changes in association with papilloedema; 4 suffered permanent visual loss. The present paper emphasises this previously infrequent finding and discusses the haemodynamic and mechanical factors responsible. The macular changes consisted of haemorrhages situated in front, within, or behind the retina, and occasionally the results of neovascular membrane formation produced secondary visual loss. Changes in the pigment epithelium were seen in 3 cases associated with choroidal folds. Macular stars rarely produce visual loss. Recognition of these changes is important in the assessment of the visual loss in papilloedema.

Peripheral retinal haemorrhages with papilloedema.

Two cases are described with severe intracranial hypertension, papilloedema, and a hitherto unreported haemorrhagic peripheral retinopathy. The marked disc swelling in these patients has probably contributed to a venous occlusive element resulting in the haemorrhagic retinopathy.

Choroidal folds and papilloedema.

AIMS: To assess the clinical and fluorescein angiographic features of choroidal folds seen in association with papilloedema. METHODS: In a retrospective study, the clinical data from a database on patients with choroidal folds (1963-97), including fundus photography and fluorescein angiography, from 32 patients (64 eyes) with choroidal folds in association with papilloedema were reviewed. The clinical and fluorescein angiographic features and the clinical course of choroidal folds in these patients are described. RESULTS: 32 patients had choroidal folds associated with papilloedema. Folds of two distinct categories were observed, either coarse folds or wrinkles. The folds persisted in all cases, even after resolution of papilloedema. Follow up ranged from 1 month to 20 years. Only one patient suffered permanent visual impairment as a result of a choroidal fold. CONCLUSIONS: Choroidal folds exist in two forms, coarse folds and wrinkles. They persist even after papilloedema has resolved. Final visual acuity did not appear to be affected by the presence of choroidal folds in the majority of patients.

Ophthalmoplegia in carotid cavernous sinus fistula.

The aetiology of ophthalmoplegia in 15 patients with carotid-cavernous sinus fistula is discussed, and the clinical findings are correlated with angiographic and orbital CT appearances. After closure of the fistula the majority of patients with generalised ophthalmoplegia recovered full ocular movements rapidly, while patients with an isolated abduction weakness required much longer to return to normal. Orbital CT studies showed enlarged extraocular muscles in the patients with generalised ophthalmoplegia but muscles of normal size in those with abduction failure alone. After closure of the fistula repeat CT studies of patients with enlarged extraocular muscles showed a diminution in muscle size. We suggest that generalised ophthalmoplegia in carotid cavernous sinus fistula is due to hypoxic, congested extraocular muscles. Isolated abduction weakness is due to a sixth nerve palsy, which probably occurs either in the cavernous sinus or more posteriorly near the inferior petrosal sinus. A combination of these 2 mechanisms may be found in some patients.

Anterior visual system involvement in non-Hodgkin's lymphoma.

Non-Hodgkin's lymphoma may have ocular involvement but optic nerve and chiasmal disease is unusual. Determining the cause of the neuropathy in this group of patients presents major difficulties despite modern neuroimaging and immunocytochemistry. Two patients with NHL are presented; one had an anterior chiasmal syndrome and the other bilateral optic nerve involvement. The first patient was thought to have lymphomatous infiltration and the second a concomitant infection (progressive multifocal leucoencephalopathy). Toxic effects of therapy were considered but finally rejected. The importance of modern neuroimaging and the role of optic nerve biopsy are discussed.

Juxtapapillary choroiditis in association with rising antichlamydial antibody.

We present the case of a 21-year-old girl with a uniocular juxtapapillary choroiditis. During the course of her illness the titre of antichlamydial IgG increased from 1/32 to 1/4096 against Chlamydia trachomatis TRIC serotypes J and C, and antichlamydial IgM appeared in her blood. Toxoplasma dye test was positive at a level of 1/128 but no increase in the titre of antibody was detected during the course of her infection. The relevance of these findings to her ocular lesion is discussed.

Juvenile Batten's disease: an ophthalmological assessment of 26 patients.

Twenty-six children with juvenile Batten's disease are reviewed. On clinical and histological evidence they appear to represent a specific disease entity, which though rare is a substantial cause of blindness in children aged 5--15 years. Children present with rapid progressive visual loss at age 6--7 years, early mental deterioration, and fits about 2--4 years later, and this is the stage at which the diagnosis is usually made. Macular degeneration appears to be a consistent early feature, and peripheral retinal changes become more marked as the disease progresses. Phototoxicity may possibly play a part in the retinal degeneration.

A point prevalence study of 150 patients with idiopathic retinal vasculitis: 1. Diagnostic value of ophthalmological features.

This paper describes the ophthalmological features of 150 patients with idiopathic retinal vasculitis, 67 of whom had isolated retinal vasculitis (RV) and 83 had RV associated with systemic inflammatory disease (RV + SID). The diagnosis of retinal vasculitis was made by ophthalmoscopy and fluorescein angiography, and patients with any identifiable cause (infection, ischaemia, or malignancy) were excluded from the study. Patients with isolated RV tended to have peripheral vascular sheathing, macular oedema, and diffuse capillary leakage. Those with RV accompanying Behçet's disease often had branch vein retinal occlusions and retinal infiltrates together with macular oedema and diffuse capillary leakage; the retinal infiltrates were pathognomonic for Behçet's disease. In sarcoidosis the retina typically showed features of periphlebitis associated with focal vascular leakage. Patients with uveomeningitis, multiple sclerosis, arthritis, or systemic vasculitis showed diffuse retinal capillary leakage associated with a mixture of the other features. Poor visual function was particularly associated with macular oedema and branch vein retinal occlusion, while the retina appeared to 'withstand' the impact of vascular sheathing, periphlebitis, or neovascularisation alone. Within the limitations of a point prevalence study it was concluded that different patterns of retinal vasculitis occur in different systemic inflammatory diseases, and that in isolated retinal vasculitis there is a particular association between peripheral vascular sheathing, macular oedema, and diffuse capillary leakage. In Part 2 we describe the results of examining the sera of these patients for the presence of antiretinal antibodies and circulating immune complexes.