Length of optic nerve double inversion recovery hypersignal is associated with retinal axonal loss.

OBJECTIVES: To assess the association between optic nerve double inversion recovery (DIR) hypersignal length and retinal axonal loss in neuroinflammatory diseases affecting optic nerves. METHODS: We recruited patients previously affected (> 6 months) by a clinical episode of optic neuritis (ON). We had 25 multiple sclerosis (MS) patients, eight neuromyelitis optica spectrum disorder (NMOSD) patients and two patients suffering from idiopathic caused ON undergo brain magnetic resonance imaging (MRI); including a 3-dimensional (3D) DIR sequence, optical coherence tomography (OCT) examination and visual disability evaluation. Evaluation criteria were retinal thickness/volume, optic nerve DIR hypersignal length and high/low contrast vision acuity. RESULTS: In the whole cohort, we found good associations (< 0.0001) between optic nerve DIR hypersignal length, peripapillary retinal nerve fiber layer thickness, inner macular layers volumes, and visual disability. We found subclinical radiological optic nerve involvement in 38.5% of non-ON MS eyes. CONCLUSIONS: Optic nerve DIR hypersignal length may be a biomarker for retinal axonal loss, easily applicable in routine and research on new anti-inflammatory or neuroprotective drug evaluation. Detection of subclinical ON with 3D-DIR in a non-negligible proportion of MS patients argues in favor of optic nerve imaging in future OCT MS studies, in order to achieve a better understanding of retinal axonal loss in non-ON eyes.

Optic Nerve Sheath Meningocele: A Case Report.

Isolated optic nerve sheath meningocele is a rare affection defined as the cystic enlargement of the optic nerve sheath filled with cerebrospinal fluid. We report the case of a 39-year-old woman presenting with bilateral meningocele uncovered during a routine examination for headache complaints. A 5-year follow-up validated the lesion's clinical and imaging stability. Magnetic resonance imaging (MRI) is an essential tool in the diagnosis of this pathology, alongside characteristic symptoms indicating that the meningocele might have progressively expanded into the orbit. In this case we present a therapeutic approach based on pathophysiological hypotheses and review of the literature.

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.

BACKGROUND: Leber congenital amaurosis (LCA) is the earliest and most severe inherited retinal degeneration. Isolated forms of LCA frequently result from mutation of the CEP290 gene which is expressed in various ciliated tissues. METHODS: Seven LCA patients with CEP290 mutations were investigated to study otorhinolaryngologic phenotype and respiratory cilia. Nasal biopsies and brushing were performed to study cilia ultrastructure using transmission electron microscopy and ciliary beating using high-speed videomicroscopy, respectively. CEP290 expression in normal nasal epithelium was studied using real-time RT-PCR. RESULTS: When electron microscopy was feasible (5/7), high levels of respiratory cilia defects were detected. The main defects concerned dynein arms, central complex and/or peripheral microtubules. All patients had a rarefaction of ciliated cells and a variable proportion of short cilia. Frequent but moderate and heterogeneous clinical and ciliary beating abnormalities were found. CEP290 was highly expressed in the neural retina and nasal epithelial cells compared with other tissues. DISCUSSION: These data provide the first clear demonstration of respiratory cilia ultrastructural defects in LCA patients with CEP290 mutations. The frequency of these findings in LCA patients along with the high expression of CEP290 in nasal epithelium suggest that CEP290 has an important role in the proper development of both the respiratory ciliary structures and the connecting cilia of photoreceptors. The presence of respiratory symptoms in patients could represent additional clinical criteria to direct CEP290 genotyping of patients affected with the genetically heterogeneous cone-rod dystrophy subtype of LCA.

TSH-secreting adenoma improved with cabergoline.

TSH-secreting adenomas are rare tumors, representing only 0.5 to 2.5% of pituitary adenomas. Their main clinical characteristics include signs of thyrotoxicosis, diffuse goiter and a compressive syndrome. Biologically, free T4 and T3 serum levels are elevated, contrasting with inadequate serum TSH levels and increased alpha chains. Magnetic resonance (MR) imaging shows a pituitary tumor, the main differential diagnosis being resistance to thyroid hormones. Treatment is based on surgery, possibly associated with somatostatin analogs and radiotherapy. Though the long-term evolution of this rare pathology seems to have improved, some clinical situations are still a challenge to treat. We report one such case that was resistant to both stereotactic radiotherapy and somatostatin analogs, but surprisingly improved with cabergoline. We suggest that cabergoline should be considered as an alternative treatment in cases of pituitary adenomas that resist traditional treatments.

Unusual ocular motor findings in multiple sclerosis.

In multiple sclerosis (MS), nystagmus or internuclear ophthalmoplegia (INO) are the usual ocular motor dysfunctions. However, in patients with focal brainstem lesions, other rare manifestations may be observed, such as an isolated ocular motor nerve palsy or complex ocular motor disturbances. We report five MS patients with unusual ocular motor disturbances (bilateral third nerve palsy [n = 2], opsoclonus, Horner's syndrome and one-and-a-half syndrome). We discuss possible correlations between clinical disturbances and MRI abnormalities. Patients were seen in two MS centres. They had a confirmed diagnosis of MS and underwent a brain MRI and a complete neuro-ophthalmological work-up. In one case (opsoclonus), ocular motor manifestations were the first manifestation of MS. In the other four cases they occurred 3 months (Horner syndrome), 6 years and 12 years (bilateral third nerve palsy) and 2 years (one-and-a-half syndrome) after the disease onset, respectively. Four out of five patients were still in a relapsing-remitting form of MS. In the opsoclonus case, there was no evidence of a brainstem lesion. A gadolinium-enhanced lesion (2 cases) or a new T2-weighted lesion located in the brainstem correlated with the clinical presentation. All patients completely or partially recovered after corticosteroid infusions. Our study shows some rare or previously undescribed complex ocular motor symptoms in MS.

[Bilateral third cranial nerve palsy triggered by an acute relapse of multiple sclerosis]. / Paralysie bilatérale du nerf moteur oculaire commun secondaire à une poussée de sclérose en plaques.

INTRODUCTION: We report a case of bilateral third cranial nerve palsy in a patient with a secondary progressive multiple sclerosis. OBSERVATION: MRI revealed a large hyperintense lesion in T2-weighted images in the mesencephalic area. The clinical and radiological outcome was good after intravenous methylprednisolone. The oculomotor signs were probably caused by this mesencephalic lesion. CONCLUSION: This case of bilateral third cranial nerve palsy is, to our knowledge, the first one occurring in a patient with multiple sclerosis.

[Tonic pupils in Sjögren's syndrome]. / Syndrome de Gougerot-Sjögren et pupille tonique d'Adie.

INTRODUCTION: Adie's syndrome is usually a disease of unknown origin. We report two cases secondary to Sjögren syndrome. CASE REPORTS: A 26-year-old man developed in few months a sensitive neuropathy with a bilateral tonic pupil. A 50-year-old woman complained of sensitive signs probably related to a ganglionopathy and dysautonomic disorders affecting sudomotor and vasomotor functions. Adie syndrome had been diagnosed three years earlier. In both patients, the systemic signs and the results of the complementary tests led to the diagnosis of Sjögren's syndrome. Corticosteroids had limited effects on the sensitive signs and no influence on the tonic pupils. CONCLUSION: Adie syndrome, isolated or accompanied by other dysautonomic disorders, may reveal or precede the diagnosis of Sjögren's syndrome.

Outer retinal dysfunction in patients treated with vigabatrin.

OBJECTIVE: To assess early visual impairment related to vigabatrin prospectively in patients with and without visual symptoms. BACKGROUND: Vigabatrin acts as an inhibitor of gamma-aminobutyric acid (GABA) transaminase. GABA-induced ion transport changes in the retinal pigment epithelium have been described. The electro-oculogram (EOG) is a clinical test that reflects photoreceptor and pigment epithelium function. PATIENTS AND METHODS: Of the 22 consecutive patients presenting with a history of partial seizures currently treated with vigabatrin, 20 were included in the study. A complete clinical ophthalmologic and neurologic examination was performed, including static 100-point perimetry, EOG, and electroretinogram (ERG). RESULTS: In 14 of 20 patients, the light/dark ratio (Arden ratio) of the standard EOG was reduced in at least one eye. The a- and b-wave amplitudes and implicit time of the ERG were within the normal range in all patients; however, ERG oscillatory potentials could not be recorded in 10 patients. Twelve patients had visual field constriction; five complained of visual symptoms. The most severe visual impairment was observed in patients treated with both vigabatrin and valproate. CONCLUSIONS: There is some evidence of outer retinal dysfunction in the patients treated with vigabatrin. EOG, a more sensitive diagnostic tool than ERG for screening vigabatrin-treated patients, also appears to be more specific.

[Pure subacute pandysautonomia: an assessment of treatment with intravenous polyvalent immunoglobulins]. / Pandysautonomie isolée subaiguë: intérêt du traitement par immunoglobulines polyvalentes.

INTRODUCTION: Acute or sub-acute pure dysautonomia is uncommon. We report a case of sub-acute pure pandysautonomia with favorable outcome after intravenous immunoglobulin therapy. CASE REPORT: A 29-year-old right-handed student, with an uneventful medical history presented, for one month, bilateral loss of visual acuity and digestive disorders, associating diarrhea, vomiting and anorexia. Physical examination revealed bilateral intrinsec oculomotor nerve palsy, a dryness syndrome and severe orthostatic hypotension. Ophthalmologic examination showed bilateral diffuse parasympathic impairment associating an Argyll Robertson pupil and full pupil light reflex abolition. Elevated protein level (0.93g/l) was the only cerebrospinal fluid anomaly. Serum tests were negative for anti-gangliosides antibodies. The patient improved slowly after two series of intravenous immunoglobulin infusions. CONCLUSION: Clinical course and laboratory findings suggest that acute or sub-acute pure pandysautonomia events are likely to be related to acute polyradiculoneuritis. Therefore intravenous polyvalent immunoglobulin infusions should be attempted, even if their efficacy needs to be confirmed.

[Retinal pigment anomalies associated with Fabry's disease]. / Anomalies pigmentaires rétiniennes associées à une maladie de Fabry.

INTRODUCTION: Fabry's disease is an X linked disease with ocular, skin and kidney lesions. We report a case which presented all the ophthalmologic signs and particular retinal manifestations. CASE REPORT: Fabry's disease was suspected in a 18 year old young man, with angiokeratomes, attacks of pain located in fingers, toes and also in the abdomen. Typical ocular morphological findings, namely whorl-like corneal opacities, posterior spoke-like cataracts and tortuosity of conjunctival vessels were found. His mother had the same ocular signs. The patient was also examined with fluorescein fundus angiography. DISCUSSION: The diagnostic value of the ocular abnormalities can be significant and are very indicative of the disease in hemizygous and heterozygous patients. Except the retinal vascular tortuosity, we describe peripheric abnormalities of the retinal pigment epithelium suggesting another disease finding.

[Management of congenital microphthalmos and anophthalmos]. / Prise en charge des microphtalmies et anophtalmies congénitales.

PURPOSE: To better characterize congenital anophthalmos and microphthalmos in order to distinguish which patients need surgical treatment. MATERIALS AND METHODS: A retrospective study of 42 cases with congenital anophthalmos and microphthalmos over a 16 years period was performed. Seven anophthalmos, 20 microphthalmic globes with no associated colobomatous orbital cyst and 15 microphthalmic globes associated with colobomatous orbital cyst were observed. Complete history, pediatrical and ophthalmological examination, electrophysiological feature, oculo-cerebral imagery and karyotype on each of the patients were reviewed. RESULTS: Among all patients, lack of development of the lids was observed in 45% of cases. In our group of anophthalmos, 100% had micro-orbit. In our group of microphthalmic globes with no associated colobomatous orbital cyst, 30% had micro-orbit and in our group of microphthalmic globes associated with colobomatous orbital cyst, 6% had micro-orbit. 75% of patients had ocular anomalies and 39% had systemic anomalies, mostly on the face. Aetiology were found in 36% of cases. Visual evoked potentials and retinal electric feature were useful to better determine visual function. CONCLUSION: Expandable orbital prosthesis would appear to be the most effective therapy for certain cases of anophthalmos and microphthalmos with micro-orbit.

[Eye disorders in children and adolescents]. / Le pithiatisme oculaire chez l'enfant et l'adolescent.

PURPOSE: We tried to better characterize non organic ocular disorders in children and adolescents: particularly clinical, perimetric and electrophysiological features. METHODS: We performed a prospective study in 25 cases during a period of 16 months. RESULTS: Non organic ocular disorders were seen among young girls between 9 and 11 years, mostly with bilateral, symmetrical and rapid visual loss. The symptoms were variable in time and responded favorably to suggestion. The ocular examination was normal. Visual field was abnormal in 52% of cases and very often showed a spiral (or snail) picture or a tubular constriction. 7' pattern visual evoked potentials were present in 88% of cases. The acuity was 20/20 in 92% of cases after the consultation and 100% later. CONCLUSION: The ophthalmic and electrophysiologic examination confirmed our diagnosis and eliminated more severe pathology.

[Quantitive evaluation of metamorphopsia in macular disease]. / Evaluation quantitative des métamorphopsies dans la pathologie maculaire.

INTRODUCTION: Visual acuity loss and scotoma are not the only functional consequence of macular disease. Frequently, patients also complain of metamorphopsia. Such visual distortion should be taken into account when evaluating the potential benefit of surgical procedures in macular disease. The Amsler grid does not allow any quantified analysis. In addition, a precise confrontation of the macular lesion with its functional consequences is not possible by this test. We present a new method for analyzing metamorphopsia in macular disease. METHODS: Opto-acustic modulation controlled laser emission allowed to generate a retinal image of 256 squares with an angular size of 1 degrees each. The subject was instructed to fixate the center of the grid and to push a handheld button every time he perceived abnormalities within the presented pattern. At the end of the procedure, the responses were represented on graph superimposed on the fundus image. 15 eyes of 15 successive patients complaining of metamorphopsia were included in this preliminary study. Informed consent was obtained prior to inclusion. All patients reported abnormalities on standard Amsler testing. The test-retest reliability was evaluated by repeating the same procedure between 2 hours and 7 days after the first procedure. RESULTS: The evaluation of 3 patients did not provide reliable information on metamorphopsia because of instable fixation. In 12 patients, a coherent response was obtained. In 9 eyes, the result was unchanged when repeating the procedure, concerning both the number of abnormal elements and their spatial distribution. CONCLUSION: The preliminary results appear to be encouraging, indicating a good reproducibility of the results of this method. They should be confirmed on a larger scale. Further work is necessary to evaluate the interest of this method in assessing functional results of macular surgery.

[Congenital achromatopsia: electroretinogram in early diagnosis]. / Achromatopsie congénitale: interêt de l'électrorétinogramme pour le diagnostic précoce.

PURPOSE: Achromatopsia is a hereditary disease responsible for congenital low vision. Patients present with nystagmus, abnormal visual behavior or photophobia. Only the electroretinogram (ERG) can confirm the diagnosis in infants. PATIENTS AND METHODS: Thirty children referred for nystagmus or low vision were included in this retrospective study. A complete ophthalmological examination, an ERG and when possible a color vision test (Ishihara, Farnsworth 15 Hue test) was done. A Ganzfeld ERG was performed in accordance with ISCEV standards in patients more than 6 years of age. In younger patients, a simplified method using electroluminescent diode stimulation was used and a comparative ERG in accordance with ISCEV standards was performed when the patients were old enough. RESULTS: The ERG response was identical in children and adults. It confirmed the diagnosis of achromatopsia: the scotopic components obtained in dark adapted conditions were normal, (scotopic a-wave, b2 wave). The photopic components, recorded in light-adapted conditions, in order to inhibit the scotopic response (photopic wave, b1 wave), were not recordable. The color vision tests confirmed color blindness; however, in some patients color denomination was correct. CONCLUSION: The simplified ERG procedures performed in our series were reliable in detecting achromatopsia. However, it may not be sufficient to discriminate complete from incomplete achromatopsia.

[Thalamocapsular metastasis of muco-epidermoid adenocarcinoma of the parotid gland]. / Métastase thalamo-capsulaire d'un adénocarcinome muco-épidermoïde parotidien.

A 58 years woman with muco-epidermitis carcinoma of the left parotid gland treated by parotidectomy and external radiation developed seven years later a left hemianopsia and moria related to thalamo-capsulo-lenticular lesions. Three stereotactic biopsies were performed. Neuropathological examination confirmed a secondary lesion of carcinoma with the same histological features than primary lesion of the parotid. Due to the metastasis location treatment consisted in external radiotherapy guided by stereotactic coordinates.