Choroidopathy in multiple evanescent white dot syndrome.
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Adult↗
Biomedical subjects
F X Borruat
Publications and source records attributed to F X Borruat.
Bilateral simultaneous optic neuropathy in adults: clinical, imaging, serological, and genetic studies.
To elucidate the cause(s) of acute or subacute bilateral simultaneous optic neuropathy (BSON) in adult life, a follow up study of 23 patients was performed with clinical assessment, brain MRI, HLA typing, and mitochondrial DNA analysis. The results of CSF electrophoresis were available from previous investigations in 11 patients. At follow up, five (22%) had developed clinically definite multiple sclerosis, four (17%) had mitochondrial DNA point mutations indicating a diagnosis of Leber's hereditary optic neuropathy (LHON). The remaining 14 patients (61%) still had clinically isolated BSON a mean of 50 months after the onset of visual symptoms: three of 14 (21%) had multiple MRI white matter lesions compatible with multiple sclerosis, three of 14 (21%) had the multiple sclerosis associated HLA-DR15/DQw6 haplotype, and one of seven tested had CSF oligoclonal IgG bands; in total only five (36%) had one or more of these risk factors. The low frequency of risk factors for the development of multiple sclerosis in these 14 patients suggests that few will develop multiple sclerosis with more prolonged follow up. It is concluded that: (a) about 20% of cases of BSON without affected relatives are due to LHON; (b) multiple sclerosis develops after BSON in at least 20% of cases, but the long term conversion rate is likely to be considerably less than the rate of over 70% seen after an episode of acute unilateral optic neuritis in adult life.
Adolescent↗
Idiopathic orbital inflammation (orbital inflammatory pseudotumour): an unusual cause of transient ischaemic attack.
A patient with idiopathic inflammation of the right orbit, established by biopsy, developed episodes of transient left sensorimotor hemiparesis. Neuroimaging showed intracranial extension of the disease with pronounced narrowing of the right internal carotid artery in its intracavernous portion. Oral cyclophosphamide induced gradual improvement. Transient ischaemic attack is rarely found in association with orbital disease and indicates possible intracranial extension.
Administration, Oral↗
[Optic neuropathy caused by alcoholism and smoking: a diagnostic pitfall of Leber's optic neuropathy].
A 39 year-old patient suffered bilateral painless visual loss while consuming abusively alcohol and cigarettes. Family history was remarkable for a similar episode in the patient's brother 21 years ago, while drinking and smoking heavily. A diagnosis of toxic optic neuropathy was made in another institution, but due to the positive family history, mitochondrial DNA was studied for a point mutations associated with Leber's hereditary optic neuropathy. A homoplasmic mutation at nucleotide 11778 was found. The patient's brother could not be studied. This case emphasizes the probable deleterious effects of epigenetic factors such as alcohol and cigarette smoke in patients harbouring mitochondrial DNA mutations associated with Leber's hereditary optic neuropathy and the need for mitochondrial DNA studies in atypical cases of optic neuropathy.
Adult↗
Natural history of diffuse uveal melanocytic proliferation. Case report.
BACKGROUND: Diffuse uveal melanocytic proliferation is a rare paraneoplastic syndrome resulting in rapid bilateral visual loss due to proliferation of benign melanocytes within the choroid and ciliary body. Most of the previously reported cases have been seen with bilateral involvement and typical ocular features. PATIENT: The authors report the case of a 61-year-old man who presented with uniocular posterior pole lesions at the level of the retinal pigment epithelium and subsequently developed the typical bilateral lesions of diffuse uveal melanocytic proliferation. His clinical course was typical, with visual disturbance preceding signs and symptoms of malignancy by 5 months. Rapid decline ensued, and he eventually died 10 months after the onset of visual symptoms. RESULTS: Results of ocular pathologic examination showed the typical choroidal thickening due to the proliferation of melanocytes and the primary tumor was found to be an undifferentiated adenocarcinoma originating in either the pancreas or the esophagus. CONCLUSIONS: The very early funduscopic and fluorescein angiographic findings of diffuse uveal melanocytic proliferation are presented as well as the evolution, ocular pathology, and possible mechanisms for its development.
Cell Division↗
Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy.
A case is reported of a 63-year-old man with progressive central visual loss in one eye followed 11 months later by involvement of the fellow eye. A diagnosis of chronic ischaemic optic neuropathy was considered. However, despite a negative family history, the absence of electrocardiographic abnormalities, and minimal fundus changes a diagnosis of Leber's optic neuropathy was made on the basis of magnetic resonance imaging findings and the mitochondrial DNA mutation at base pair 11778.
DNA, Mitochondrial↗
Herpes zoster ophthalmicus. Anterior ischemic optic neuropathy and acyclovir.
A healthy 56-year-old man developed left-sided herpes zoster ophthalmicus, accompanied initially by ipsilateral anterior uveitis and increased intraocular pressure. Although he was treated in the subacute phase (5 days after skin eruption) with adequate oral doses of acyclovir for 10 days, the condition was later complicated by a left sectorial anterior ischemic optic neuropathy. The pathogenesis of this rare complication is discussed in this article.
Acyclovir↗
[Prevention of ocular complications of herpes zoster ophthalmicus by adequate treatment with acyclovir].
We compared the frequency of severe ocular complications secondary to Herpes Zoster Ophthalmicus (HZO) in 232 patients. They were divided into three groups: 1) patients without treatment (n = 164); 2) patients treated adequately (n = 48) with acyclovir (ACV; 5 x 800 mg/d orally and ophthalmic ointment 5 x /d for a minimum of 7 days, given within three days after skin eruption); and, 3) patients treated inadequately (n = 20) with ACV (only topical treatment, insufficient doses, interrupted treatment, delayed treatment). Patients with no treatment or with inadequate treatments showed the same frequency of severe ocular complications (21% (34/164) and 25% (5/20), respectively). In contrast, when adequate treatment of ACV was given complications occurred in only 4% (2/48) of cases. This study emphasizes the need for prompt (within three days after skin eruption) and adequate (5 x 800 mg/d for at least 7 days) treatment of ACV to prevent the severe complications of HZO.
Acyclovir↗
[Multiple evanescent white dot syndrome].
MEWDS is a benign acquired disorder of the retinal pigment epithelium of unknown etiology which has been first described in 1984. Actually more than 50 cases have been reported worldwide but only 5 cases from Europe. We report 10 other cases of MEWDS, seen in the past 5 years. Their clinical presentation, perimetric and electroretinographic results, as well as their differential diagnosis will be reported.
Diagnosis, Differential↗
Isolated complete orbital infarction: a common carotid artery occlusion syndrome.
When blood flow through the internal and external carotid arteries is completely interrupted by ipsilateral common carotid artery occlusion, the arterial orbital circulation may be more compromised than the brain supply. We studied a pure and extreme example of this situation in a patient who presented with acute orbital infarction, but no cerebral ischemia on clinical, CT and single-photon emission computerized tomography (SPECT) grounds. Ipsilateral blindness corresponded to retinal, choroidal and optic nerve infarction. The pattern of ophthalmoplegia, with relative sparing of adduction, was more compatible with a muscle than a nerve dysfunction, but a reactive dilated pupil, corneal anesthesia, and orbital pain suggested that the intraorbital branches of the ocular motor nerves and ophthalmic division of the trigeminal nerve were not spared. In addition, signs of widespread ocular ischemia were present. Sequential examinations documented the evolution pattern over 1 year. The absence of an orbital collateral supply from the contralateral external carotid and muscular cervical arteries systems, which contrasted with an adequate middle cerebral artery supply via the contralateral internal carotid artery, may explain this isolated and complete form of orbital ischemia due to common carotid artery occlusion.
Arterial Occlusive Diseases↗
Patterns of rod and cone dysfunction in Bardet-Biedl syndrome.
We studied visual function in 16 patients with the Bardet-Biedl syndrome. Visual acuity, kinetic perimetry, and electroretinography results indicated a severe loss of central and peripheral vision and rod and cone function by the second or third decade of life. Light- and dark-adapted static perimetry in patients 10 to 15 years of age with early involvement showed a parallel and marked loss of rod and cone sensitivity across the visual field. Patients with more advanced disease and no measurable peripheral visual field showed different patterns of central visual dysfunction: an island of only cone function centered in a bull's-eye lesion; patches of rod function surrounding geographic atrophy; or a central island of excellent rod sensitivity but severely impaired cones. In the two least-affected patients, a 13-year-old boy and the asymptomatic 45-year-old sibling of a patient, there were more rod than cone abnormalities as determined by electroretinography and static perimetry.
Adolescent↗
Rhodopsin levels and retinal function in cats during recovery from vitamin A deficiency.
Extended vitamin A deficiency in the cat led to an abnormal appearance in the tapetal fundus with the formation of a dark brown streak centered on the area centralis. At this time rod sensitivity, as measured by the b-wave of the electroretinogram, was reduced by more than two log units; the level of rod visual pigment was reduced by about 90% throughout the paracentral retinal region and was essentially absent from the area centralis. Following oral supplementation with vitamin A there was a rapid partial recovery of both rhodopsin levels and rod sensitivity. Further recovery continued over more than 18 days to levels that were not substantially below normal. This recovery was absent from the area centralis, in which measured visual pigment levels remained very low. In supplemented cats, the brown color in the fundus faded but there remained a small hyper-reflective zone at the area centralis. Morphological examination of the central retina in a supplemented cat showed an outer nuclear layer reduced to one or two rows in the small zone with low rhodopsin levels. Cone but not rod photoreceptors were present in this zone and they appeared to lack outer segments. During recovery, the increase in rod sensitivity was approximately linearly related to the recovery of rhodopsin levels. Thus, in these conditions reduction in sensitivity resulting from previous vitamin A deficiency was limited by the ability of the photoreceptors to absorb incident quanta. The time course of the recovery of rhodopsin and sensitivity suggests that at least two processes were involved. The faster of these may be the regeneration of rhodopsin from existing opsin molecules in the outer segments, while the slower may depend on the renewal of the outer segments themselves.
Animals↗
Advanced retinitis pigmentosa: quantifying visual function.
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Adult↗
Rhodopsin topography and rod-mediated function in cats with the retinal degeneration of taurine deficiency.
Cats on a taurine-deficient diet were studied with imaging fundus reflectometry and full-field electroretinography. The pattern of rhodopsin loss and the natural history of the disease were determined from maps of the rhodopsin distribution in the central and nasal retina of cats with different degrees of severity of the retinopathy. Rhodopsin loss is first detectable in a focal region of the central retina. Subsequently, there are decreases in rhodopsin in the paracentral and nasal midperipheral retina. The horizontal streak of high rhodopsin levels is preferentially reduced in this retinopathy. The b-wave amplitude of the rod-dominated ERG is markedly reduced in cats with only mildly decreased levels of rhodopsin in the peripheral retina. In an affected cat with moderate rhodopsin loss in the central retina but minimal loss nasally, a light-microscopic study of the retina showed that there was disorganization and shortening of rod outer segments and loss of rod photoreceptor cells in the areas of reduced rhodopsin levels.
Animals↗
Rod or cone dysfunction: uniocular presentations.
Two patients presented with unusual uniocular electroretinographic (ERG) phenomena. One patient showed the ERG characteristics of stationary night blindness in one eye only and the other patient presented with ERG evidence of uniocular cone dysfunction. In both patients, however, further electrophysiological and psychophysical studies and serial testing provided evidence for dysfunction of both receptor systems and relatively subtle involvement of the fellow eyes.
Adult↗