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.

[Hereditary optic neuropathies: from clinical signs to diagnosis]. / Les neuropathies optiques héréditaires: du signe clinique au diagnostic.

Inherited optic atrophy must be considered when working up any optic nerve involvement and any systemic disease with signs of optic atrophy, even with a negative family history. There are two classical forms: dominant optic atrophy, characterized by insidious, bilateral, slowly progressive visual loss and temporal disc pallor, and Leber's optic atrophy, characterized by acute loss of central vision followed by the same event in the fellow eye within a few weeks to months, with disc hyperemia in the acute phase. Family history is critical for diagnosis. In the absence of family history, the clinician must rule out an identifiable acquired cause, i.e. toxic, inflammatory, perinatal injury, traumatic or tumoral, with orbital and brain imaging (MRI). Recessive optic atrophies are more rare and more severe and occur as part of multisystemic disorders, particularly Wolfram syndrome (diabetes mellitus, diabetes insipidus, and hearing loss). Effective treatments are limited; alcohol and smoking should be avoided. A cyclosporine trial (taken immediately upon visual loss in the first eye) is in progress in Leber's optic atrophy to prevent involvement of the fellow eye.

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.

[Aicardi syndrome with unilateral ocular involvement]. / Atteintes ophtalmologiques unilatérales dans le syndrome d'Aicardi.

INTRODUCTION: Aicardi syndrome is a severe congenital disorder affecting females and characterized by a triad of symptoms, including infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. OBSERVATIONS: This retrospective study demonstrates that three out of eight children followed at CHRU of Lille for Aicardi syndrome exhibited unilateral chorioretinal lacunae. For these patients, the condition was diagnosed prior to 6months based on abnormal fundus exam as well as neurological and radiological (MRI) abnormalities. DISCUSSION: These patients with Aicardi syndrome have unilateral ocular abnormalities. Moreover, the differential diagnosis must be considered in the presence of microcephaly, chorioretinal dysplasia and mental retardation. CONCLUSION: Unilateral chorioretinal lacunae do not rule out the diagnosis of Aicardi syndrome in the presence of psychomotor retardation and agenesis of the corpus callosum on magnetic resonance imaging.

[Superior oblique myokymia: a report of three cases]. / Myokimie de l'oblique supérieur : à propos de trois cas.

INTRODUCTION: Superior oblique myokymia (SOM/MOS) is an under-recognised and probably under-diagnosed disorder. We describe the clinical signs of this condition among three patients. Next, from review of the literature, we suggest an algorithm for diagnosis and treatment. OBSERVATION: Retrospective study of three patients aged 40 to 55 presenting with brief, intermittent monocular episodes of oscillopsia. DISCUSSION: The acute symptomatology of superior oblique myokymia follows a recognizable pattern: it always presents with brief, intermittent monocular vertical oscillopsia and/or vertical diplopia with torsion. The clinical signs are related to a neurogenic hyperexcitability of the superior oblique muscle. Treatment may be medical (carbamazepine, gabapentin, beta-blocker) or surgical. Recent publications report that superior oblique myokymia may result from vascular compression of the trochlear nerve (fourth cranial nerve), which controls the action of the superior oblique muscle, placing this condition in the category of vasculonervous conflicts. CONCLUSION: Superior oblique myokymia is a relatively poorly known disorder, despite classic pathognomonic symptoms. It is a benign condition, which can nonetheless become incapacitating. It occasionally portends an intracranial pathologic process, which must then be addressed with specific treatment.

[Atrophic tamoxifen maculopathy]. / Maculopathie atrophique au tamoxifène.

Tamoxifen maculopathy is characterized by perifoveal white refractile deposits associated with pigmentary changes and cystoid macular edema. We report a case of atrophic maculopathy related to tamoxifen in a 70-year-old patient. Fundus examination showed refractile deposits in the macula predominantly in the left eye. Fundus autofluorescence demonstrated foveolar autofluorescence in both eyes. Fluorescein angiogram showed bilateral foveolar hyperfluorescence without leakage in the late phase. Optical coherence tomography disclosed an interruption of the photoreceptor layer in both eyes with a foveolar cystoid space. Multifocal electroretinogram showed bilateral alteration of the foveolar pic. The perifoveal foveolar cyst disappeared on OCT after discontinuation of tamoxifen. This case highlights the usefulness of optical coherence tomography and multifocal electroretinogram in the early diagnosis of atrophic form of tamoxifen maculopathy.

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.

[Ophthalmologic characteristics of spheno-orbital meningiomas: a series of 23 surgical cases]. / Manifestations ophtalmologiques des méningiomes sphéno-orbitaires. A propos de 23 cas chirurgicaux.

PURPOSE: The authors report the ophthalmological characteristics and the postoperative results of patients presenting with spheno-orbital meningioma. DESIGN: A retrospective study of 23 charts of patients, presenting with spheno-orbital meningioma between 1994 and 2007, was performed. The data of preoperative and postoperative ophthalmologic examinations, perimetry and visual evoked potentials were collected. RESULTS: All the 23 patients were female. Diagnostic elements were proptosis (n=18), filling of the temporal pit (n=12) and visual impairment (n=11). Diagnosis was confirmed by orbital imaging. Perimetry and visual evoked potentials enabled to detect asymptomatic impairment of visual function, perimetry being the more sensitive method. Neurosurgery was the gold standard treatment, completed with radiotherapy in some cases of incomplete surgery or recurrence. CONCLUSION: Meningioma without optic nerve compression in the optic canal had better postoperative results with stabilization or improvement of the visual acuity compared with more unpredictable results obtained in cases with preoperative compression in the optical canal. Long term follow up of these patients is necessary because of the risk of relapse (n=3).

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.