Gamma Knife surgery for a hemangioma of the cavernous sinus in an adult: Case report and short review of the literature.

Cavernous sinus hemangiomas (CSH) are rare benign extra-axial vascular lesions. Both radiological and clinical aspects are important, for deciding a therapeutic modality, including medical treatment, radiation therapy or microsurgery. In the particular case of CSH, a radical removal of the tumor often cannot be achieved and is associated with a considerable risk for intraoperative uncontrollable bleeding. An alternative treatment modality is radiosurgery. Here we report the case of a 45-year-old patient, who presented with diplopia due to left abducens nerve palsy. A left-sided cavernous sinus lesion was found, initially considered to be a meningioma. However, after serial MR acquisitions, a progressive and heterogeneous enhancement was observed. In order to clarify the diagnosis between meningioma and hemangioma, a diagnostic Tc-99m labeled red blood cells (RBC) scintigraphy (Tc-99m RBC scintigraphy) was performed and showed a typical perfusion blood pool mismatch, with accumulation of the RBC at the level of the left CS, which is typical for a hemangioma. The patient underwent Gamma Knife surgery. The CSH showed a significant reduction in size starting 6 months after treatment and a full regression of the left abducens nerve palsy was observed within 1 year. These clinical and radiological results persisted over the next 3 years.

Transsynaptic Retrograde Degeneration: Clinical Evidence with Homonymous RGCL Loss on OCT.

BACKGROUND: Retinal thinning after a retrogeniculate lesion (transsynaptic retrograde degeneration) was first described 50 years ago, but has long been a controversial issue. It is now possible to use OCT for the in vivo measurement of retinal thickness. MATERIAL AND METHODS: This was a retrospective study of patients with homonymous visual field loss, with SD-OCT assessment (RNFL and RGCL measurements) in isolated retrogeniculate lesions, subsequently confirmed by a neuroradiologist. RESULTS: Nine patients with vascular, inflammatory or tumour brain lesions were included in the study. Homonymous RGCL thinning was found in all patients, and correlated with the visual field defect. No correlation was found with RNFL. CONCLUSIONS: The homonymous defect of RGCL in patients with retrogeniculate lesions demonstrates the presence of transsynaptic retrograde degeneration. RGCL is a better predictor of visual field defects than RNFL measurement.

Biphasic response of a tecto-mesencephalic pilocytic astrocytoma after Gamma Knife surgery--A case report.

Biphasic response (shrinkage-regrowth-shrinkage) of tumors has never previously been reported in the postoperative course, neither after microsurgery, nor after Gamma Knife surgery (GKS). We present the case of an adult with dorsal midbrain syndrome resulting from a pilocytic astrocytoma centered on the mesencephalic tectum. The tumor extended to the third ventricle and the thalamus. Initially, due to tumor growth, a biopsy was performed and histology established. Later, a ventriculocisternostomy for obstructive hydrocephalus was performed. Finally, GKS was performed, as the tumor continued to grow. After GKS, the lesion exhibited a biphasic response, with a major shrinkage at 3 months, regrowth within the target volume at 6 and 9 months and a second phase of important shrinkage at 12 months, which persisted for the next two years. The possible mechanisms for this particular response pattern are discussed.

Microcystic macular edema in optic nerve atrophy: a case series.

BACKGROUND: Microcystic macular edema can occur after optic neuropathies of various etiologies, and is easily demonstrated by OCT. We report a cohort of patients with microcystic macular edema. PATIENTS AND METHODS: All patients with optic neuropathy and microcystic macular edema were enrolled. Demographics, visual function, retinal angiographies and OCT parameters were studied. RESULTS: Nineteen patients (23 eyes) exhibited microcystic macular edema: 10 men/9 women, aged 17-91 years. Etiologies of optic nerve atrophy were compressive (5), inflammatory (4), glaucoma (3), ischemic (3), trauma (2), degenerative (1), and hereditary (1). Median visual acuity was 4/10 (NLP-12/10). Fluorescein angiography showed no leakage. Topography of the microcystic macular edema correlated with near infrared images but with visual field defects in only 26%. OCT parameters were all abnormal. CONCLUSIONS: Microcystic macular edema is a non-specific manifestation from an optic neuropathy of any etiology. The precise mechanism leading to microcystic macular edema remains unknown but trans-synaptic retrograde degeneration with Müller cells dysfunction is likely.

Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation.

PURPOSE: To report on the clinical and electrophysiological findings in a patient with oculo-auricular syndrome due to HMX1 mutation, with a follow-up of 12 years. BACKGROUND: Oculo-auricular syndrome (MIM: 612109) is a rare developmental recessive condition affecting the eye and external ear that results from a mutation in the HMX1 gene. Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas and rod-cone dystrophy. METHODS: Retrospective chart review of an affected boy followed over a period of 12 years who had serial complete ophthalmologic examinations, fundus photographs, Goldmann perimetry and full-field electroretinograms (ERG). RESULTS: Initial ERG tracings revealed generalized rod more than cone dysfunction. Thereafter, a rapid deterioration in rod and cone function was detected on follow up ERGs. CONCLUSION: The retinal degeneration in the recessively inherited oculo-auricular syndrome is a progressive rod-cone dystrophy. Visual prognosis is guarded considering the progressive nature of the retinal dystrophy in early infancy.

Mitochondrial DNA (mtDNA) A 3243G mutation associated with an annular perimacular retinal atrophy.

BACKGROUND: A point mutation at the locus 3243 of the mitonchondrial DNA (mtDNA) is associated with either the MIDD syndrome (maternally inherited diabetes, deafness), the MELAS syndrome (myopathy, encephalitis, lactic acidosis, stroke) or cardiac, digestive, endocrine or exocrine dysfunctions. We report a peculiar maculopathy in two patients with an mtDNA 3243 mutation. HISTORY AND SIGNS: Case 1: A visually asymptomatic 40-year-old woman was examined for screening of diabetic retinopathy. Visual acuity was 10 / 10 in both eyes. Case 2: A 54-year-old woman with deafness and diabetes complained of visual loss. Visual acuity was 6 / 10 for the right eye and 0.5 / 10 for the left eye. Both patients exhibited a chorioretinal areolar atrophy. Case 1 was followed over 15 years and exhibited a slow progression of the maculopathy with moderate loss of visual acuity to 6 / 10 in both eyes, but marked handicap from the annular scotoma. THERAPY AND OUTCOME: None. CONCLUSION: Both patients presented a perimacular annular retinal atrophy. Patients harbouring mtDNA 3243 mutation should be examined for the presence of a maculopathy, even if they are asymptomatic. Conversely, the finding of such a geographic maculopathy should suggest the possibility of a point mutation at the locus 3243 of the mitochondrial DNA, especially in the presences of diabetes mellitus and/or deafness.

Long-term stability of retinal function despite retained intraocular metallic foreign body.

BACKGROUND: Persisting metallic intraocular foreign bodies (IOFB) with a ferrous content have been associated with ocular siderosis and retinal degeneration. We describe two patients in whom a metallic IOFB containing iron was left embedded for many years in the choroid and sclera after having penetrated through the vitreous and the retina. HISTORY AND SIGNS: Two male patients, aged 41 and 48 years, presented with a metallic IOFB sustained during a work accident involving metal tools. THERAPY AND OUTCOME: For the first patient it was deemed unwise to operate, as the IOFB was also lodged very deeply in the choroid and sclera in the inferior temporal quadrant. The second patient underwent pars plana vitrectomy, but the IOFB could not be removed surgically as it was too deeply embedded in the sclera and choroid. After a period of 6 years (Case 1) and 4 years (Case 2) of follow-up, visual acuity remained at 1.0 and the IOFB was encased in a fibrotic capsule in both cases. Full-field and multifocal electroretinograms showed an inter-ocular asymmetry at baseline, which remained stable during the follow-up. CONCLUSIONS: Ocular siderosis may not develop in patients with a deeply embedded metallic IOFB. Regular monitoring of both visual function and the electroretinogram is mandatory when the IOFB is left inside the eye.

Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.

BACKGROUND: Cobalamin C methylmalonic aciduria with homocystinuria (cblC disease) is a rare hereditary inborn error of cobalamin metabolism, characterised by neurological, haematological and ophthalmological abnormalities. PATIENTS AND METHODS: Three consecutive patients with Cblc disease were examined. Investigations included slit lamp and fundus examination and full-field ERG. RESULTS: A maculopathy associated with both photopic and scotopic abnormal ERG was present in two cases and a salt and pepper retinopathy with abnormal photopic ERG was detected in the third patient. CONCLUSIONS: Despite early treatment and regular metabolic controls, all our patients exhibited both retinal and ERG abnormalities. There was no correlation between funduscopic appearance and the type of photoreceptor dysfunction. A literature review disclosed a retinopathy in 29 / 70 cases with cblC disease, with an abnormal ERG in 8 of the 12 tested cases, most with retinopathy. Retinal dysfunction in cblC disease may be more frequent than previously thought, and can involve cones only or both rods and cones. We recommend a formal ocular examination with full-field ERG in patients with Cblc disease.

Perioperative visual loss: a rare complication of general surgery.

BACKGROUND: Perioperative visual loss (PVL) refers to the loss of vision following surgery performed at distance from the visual pathways. An ischemic optic neuropathy (ION) is the most frequent clinical presentation of PVL, and can be bilateral. PATIENTS AND METHODS: A retrospective chart review of 11 consecutive patients with PVL examined between 2002 and 2007 was undertaken. RESULTS: An ION was found in all 11 cases: 8 were anterior (AION) and 3 were posterior (PION). Visual loss was bilateral in 9 patients. Mean visual acuity (VA) was 0.2 on the Snellen chart (0.74 LogMAR). Most frequently an arcuate/altitudinal visual field defect was present. PVL followed orthopedic (6), spinal (1), cardiac (2) and vascular (2) procedures. The average delay between surgery and visual loss was 32 hours (range: 0-96 hours). Average lowest perioperative hemoglobin level was 75 g/L. Average follow-up time was 14.7 months. VA improved by at least 2 Snellen lines in 5/20 eyes (25 %). CONCLUSIONS: PVL is a rare but dreadful complication of surgery, and is usually associated with severe anemia. Like other causes of ION, there is no specific therapy. Prompt correction of the anemia might decrease the rate of this complication.