Marianne Wegener

Axonal loss occurs early in dominant optic atrophy

Purpose:  This study set out to investigate retinal nerve fibre layer (RNFL) thickness and best corrected visual acuity (BCVA) in relation to age in healthy subjects and patients with OPA1 autosomal dominant optic atrophy (DOA).

OCT for optic disc evaluation in idiopathic intracranial hypertension.

BackgroundOptical coherence tomography (OCT) enables quantification of retinal layer thicknesses. Studies evaluating the ability of OCT to identify and quantify papilledema are few. Therefore, the aim was to evaluate the applicability of peripapillary OCT evaluation in an unselected, consecutive series of patients with confirmed idiopathic intracranial hypertension (IIH).MethodsA case-control study of 20 patients with newly diagnosed IIH and 20 healthy subjects. Subjects were evaluated by means of direct ophthalmoscopy, masked evaluations of fundus photography, peripapillary retinal nerve fiber layer thickness (RNFLT), and peripapillary average retinal thickness (PART) measurements (Stratus OCT-3, fast RNFL 3.4 protocol).ResultsOCT evaluation of PART revealed the highest number of patients (n = 20) with optic disc abnormalities in either eye (90%), compared with 85%, 80% and 70% for RNFLT measurements, direct ophthalmoscopy, and fundus photography respectively. There was a linear association between means and differences of OCT data (RNFLT, PART) with a slope of 0.54 (SE 0.025), p < 0.001.ConclusionPeripapillary OCT is a promising objective examination modality for optic disc evaluation in IIH, and may improve the identification of subtle disc swellings. Underestimation of RNFLT for increasing severities of papilledemas is suspected, making PART a more reliable parameter compared to RNFLT. Future larger validation studies are needed.

The course of headache in idiopathic intracranial hypertension: a 12-month prospective follow-up study.

Our aim was to prospectively describe the course of headache during the first year of idiopathic intracranial hypertension (IIH).

Peripapillary Retinal Nerve Fiber Layer Thickness Corresponds to Drusen Location and Extent of Visual Field Defects in Superficial and Buried Optic Disc Drusen

Background: Optic disc drusen (ODD) are hyaline deposits located within the optic nerve head. Peripapillary retinal nerve fiber layer (RNFL) thinning is associated with the high prevalence of visual field defects seen in ODD patients. The goal of this study was to investigate the characteristics of patients with ODD and to compare the peripapillary RNFL thickness to the extent of visual field defects and anatomic location (superficial or buried) of ODD. Methods: Retrospective, cross sectional study. Results: A total of 149 eyes of 84 ODD patients were evaluated. Sixty-five percent were female and 76% had bilateral ODD. Of 149 eyes, 109 had superficial ODD and 40 had buried ODD. Peripapillary RNFL thinning was seen in 83.6% of eyes, where optical coherence tomography was performed (n = 61). Eyes with superficial ODD had greater mean peripapillary RNFL thinning (P ⩽ 0.0001) and visual field defects (P = 0.002) than eyes with buried ODD. There was a correlation between mean peripapillary RNFL thinning and visual field defects as measured by perimetric mean deviation (R-0.66; P = 0.0001). The most frequent visual field abnormalities were arcuate and partial arcuate defects. Conclusions: Peripapillary RNFL thickness correlates with anatomic location (superficial or buried) of ODD. Frequency and extent of visual field defects corresponded with anatomic location of ODD and peripapillary RNFL thickness, suggesting increased axonal damage in patients with superficial ODD.

The Optic Disc Drusen Studies Consortium Recommendations for Diagnosis of Optic Disc Drusen Using Optical Coherence Tomography

Background: Making an accurate diagnosis of optic disc drusen (ODD) is important as part of the work-up for possible life-threatening optic disc edema. It also is important to follow the slowly progressive visual field defects many patients with ODD experience. The introduction of enhanced depth imaging optical coherence tomography (EDI-OCT) has improved the visualization of more deeply buried ODD. There is, however, no consensus regarding the diagnosis of ODD using OCT. The purpose of this study was to develop a consensus recommendation for diagnosing ODD using OCT. Methods: The members of the Optic Disc Drusen Studies (ODDS) Consortium are either fellowship trained neuro-ophthalmologists with an interest in ODD, or researchers with an interest in ODD. Four standardization steps were performed by the consortium members with a focus on both image acquisition and diagnosis of ODD. Results: Based on prior knowledge and experiences from the standardization steps, the ODDS Consortium reached a consensus regarding OCT acquisition and diagnosis of ODD. The recommendations from the ODDS Consortium include scanning protocol, data selection, data analysis, and nomenclature. Conclusions: The ODDS Consortium recommendations are important in the process of establishing a reliable and consistent diagnosis of ODD using OCT for both clinicians and researchers.

Arachnoid cyst causing an optic neuropathy in neurofibromatosis 1

matosis type 1 (NF1) (Fig. 1A) and a 1-year history of controlled left unilateral juvenile glaucoma, related to congenital ectropion uveae, presented with a rapid, unexplained, painless visual loss in the left eye. Eight months after the onset of visual loss, best corrected visual acuity was 20 ⁄ 20 in the right and 20 ⁄ 200 in the left eye. A relative afferent pupillary defect was observed in the left eye. Right eye examination was normal. There was a left minimal proptosis and a mild congenital ptosis. Slit-lamp examination disclosed ectropion uveae (Fig. 1B) and fundoscopy showed a glaucomatous cupped optic disc with a normally coloured neuro–retinal rim (Fig. 1C, D). Ishihara colour vision and eye motility were normal. Intraocular pressure was 14 ⁄ 14 mmHg on topical prostaglandin analogue treatment. Automated visual fields disclosed an unexplained left central scotoma, in addition to glaucomarelated arcuate defects (Fig. 1E, F). Cerebral and orbital magnetic resonance imaging (MRI) revealed a lesion surrounding the left intracranial portion of the optic nerve, extending into the posterior part of the optic canal (Fig. 1G).The lesion was isointense to cerebrospinal fluid (CSF) on T1and T2-weighted images without enhancement after gadolinium injection, and an arachnoid cyst was suspected. The patient underwent decompression surgery with removal of thin, lobulated cysts around the chiasm and optic nerve. Vision did not recover postoperatively. Histopathological examination by routine paraffin technique and light microscopy demonstrated cyst walls composed of a collagen-rich, fibrillar tissue, surrounding spaces partially lined by an epithelium-like cell layer (Fig. 1H). A few psammoma bodies were found (Fig. 1I). Prussian blue stain depicted large areas of previous spontaneous bleedings within the lesion (Fig. 1J). Immunohistochemistry demonstrated that the cells of the walls reacted with vimentin antibodies (clone 3B4,), but the epithelium-like cells did not (Fig. 1H). All cells were negative for cytokeratins, (clone AE1 ⁄AE3 + 8 ⁄ 18, detecting cytokeratins no.: 1, 4, 5, 7, 8, 10, 13, 14, 18 and 19), glial fibrillar acidic protein (polyclonal antibody) and S-100 protein (polyclonal antibody). In summary, the tissue morphology indicated thickened dura mater and leptomeninges with a few meningothelial cells, consistent with an arachnoid cyst. Optic neuropathies are common findings in NF1 and are usually related to gliomas. Our patient had stable juvenile glaucoma caused by congenital ectropion uveae, a neuralcrest-derived anterior segment dysgenesis syndrome which can be associated with NF1 (Trovó-Marqui et al. 2004). The occurrence of unexplained central visual loss, despite controlled glaucoma, prompted neuroimaging, which disclosed an intracranial arachnoid cyst extending into the optic canal, possibly precipitating the central visual loss by compression. Radiologically, orbital arachnoid cysts may mimic gliomas because the high water content of gliomatous tissue produces MRI signals identical to those of CSF (Brodsky 1993; Akor et al. 2003). In our case the lack of contrast enhancement supported the arachnoid cyst diagnosis (Cincu et al. 2007), but did not rule out the glioma. Arachnoid cysts are intracranial, space-occupying lesions of unknown pathogenesis. They are typically stable in size over time and mass symptoms are exceedingly rare (Cincu et al. 2007). Symptomatic cyst expansion can, among other causes, be related to Diagnosis ⁄Therapy in Ophthalmology

Syphilis mimicking idiopathic intracranial hypertension

Idiopathic intracranial hypertension (IIH) is a condition of yet unknown aetiology affecting predominantly obese females of childbearing age. IIH is a diagnosis of exclusion as raised cerebrospinal fluid pressure may occur secondary to numerous other medical conditions. An atypical phenotype or an atypical disease course should alert the physician to reevaluate a presumed IIH-diagnosis. The authors report a case of a 32-year-old non-obese male with intracranial hypertension, secondary to a syphilitic central nervous system infection, initially misdiagnosed as being idiopathic. Upon relevant antibiotic treatment, signs and symptoms of elevated intracranial pressure resolved completely. Syphilis is a rare, but very important, differential diagnosis that in this case was clinically indistinguishable from IIH.

Intrachiasmatic abscess caused by IgG4-related hypophysitis

IntroductionAutoimmune hypophysitis is a rare disease of the pituitary, which may affect vision by inflammation and compression of the optic chiasm. However, intrachiasmatic abscess formation has not been previously reported.MethodsIn this study, we report a case of a 29-year-old female with bitemporal hemianopia due to a cystic intrasellar tumor. The patient underwent surgical decompression of the lesion, which was found to be an intrachiasmatic abscess.ResultsThe histologic findings were consistent with IgG4 hypophysitis.ConclusionThis rare clinical presentation suggests that in case of a disproportionate degree of visual impairment in relation to the size of the lesion, suspicion should lead to an intrachiasmatic lesion.

Long-term visual outcome in a Danish population of patients with idiopathic intracranial hypertension

Idiopathic intracranial hypertension (IIH) is characterized by raised intracranial pressure (ICP), normal cerebrospinal composition and exclusion of alternative causes to increased ICP. The aim of this study was to evaluate long‐term visual outcome in a Danish population of IIH patients.

Lithium-Induced Downbeat Nystagmus and Horizontal Gaze Palsy

We report a case of lithium-induced downbeat nystagmus and horizontal gaze palsy in a 62-year-old woman who was treated for a bipolar affective disorder with lithium carbonate for one month. At presentation serum lithium was within therapeutic range. No alternative causes of the ocular motility disturbances were found, and the patient improved significantly as lithium carbonate was discontinued.