Orbital apex cyst: a rare cause of compressive optic neuropathy post-functional endoscopic sinus surgery.
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ABSTRACT:
SUBMITTER: Koh YN
PROVIDER: S-EPMC5546777 | biostudies-other | 2017
REPOSITORIES: biostudies-other
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Project description:BackgroundTo describe the surgical technique and assess the clinical efficacy and safety of modified endoscopic transnasal orbital apex decompression in the treatment of dysthyroid optic neuropathy.MethodsIn this retrospective research, forty-two subjects (74 orbits) who underwent modified endoscopic transnasal orbital apex decompression for the treatment of dysthyroid optic neuropathy were enrolled. Preoperative and postoperative best-corrected visual acuity (BCVA), visual field mean deviation (MD), Hertel exophthalmometry, and new onset diplopia were assessed before and after the intervention. The Wilcoxon test was used for differential analysis. Linear mixed-models' analyses were conducted to assess the potential predictors for BCVA change.ResultsPostoperatively, the mean BCVA improved from 0.70 ± 0.62 logMAR to 0.22 ± 0.33 logMAR. BCVA significantly improved in 69 eyes (93%), remained stable in 4 eyes (5%) and deteriorated in 1 eye (1%). MD of visual fields improved from -13.73 ± 9.22 dB to -7.23 ± 7.04 dB. Proptosis decreased from 19.57 ± 3.38 mm to 16.35 ± 3.01 mm. Preoperative BCVA, MD of visual fields and medical rectus diameter were independent factors associated with improvements in BCVA (P < 0.05) by linear mixed-models' analyses. Eighteen patients (42.9%) developed new diplopia postoperatively.ConclusionModified endoscopic transnasal orbital apex decompression effectively restores vision in dysthyroid optic neuropathy.
| S-EPMC8080388 | biostudies-literature
Project description:Background and purposeDON, a serious complication of GO, is frequently difficult to diagnose clinically in its early stages because of confounding signs and symptoms of congestive orbitopathy. We evaluated the ability of square area measurements of orbital apex crowding, calculated with MDCT, to detect DON.Materials and methodsFifty-six patients with GO were studied prospectively with complete neuro-ophthalmologic examination and MDCT scanning. Square measurements were taken from coronal sections 12 mm, 18 mm, and 24 mm from the interzygomatic line. The ratio between the extraocular muscle area and the orbital bone area was used as a CI. Intracranial fat prolapse through the superior orbital fissure was recorded as present or absent. Severity of optic nerve crowding was also subjectively graded on coronal images. Orbits were divided into 2 groups (with or without clinical evidence of DON) and compared.ResultsNinety-five orbits (36 with and 59 without DON) were studied. The CIs at all 3 levels and the subjective crowding score were significantly greater in orbits with DON (P < .001). No significant difference was observed regarding intracranial fat prolapse (P = .105). The area under the ROC curves was 0.91, 0.93, and 0.87 for CIs at 12, 18, and 24 mm, respectively. The best performance was at 18 mm, where a cutoff value of 57.5% corresponded to 91.7% sensitivity, 89.8% specificity, and an odds ratio of 97.2 for detecting DON. A significant correlation (P < .001) between the CIs and VF defects was observed.ConclusionsOrbital CIs based on area measurements were found to predict DON more reliably than subjective grading of orbital crowding or intracranial fat prolapse.
| S-EPMC7966547 | biostudies-literature
Project description:ObjectivesTo compare the optic nerve head (ONH) structure between compressive optic neuropathy (CON) and glaucomatous optic neuropathy (GON), and to determine whether selected ONH quantitative parameters effectively discriminate between GON and CON, especially CON cases presenting with a glaucoma-like disc.MethodsWe prospectively assessed 34 patients with CON, 34 age-matched patients with moderate or severe GON, and 34 age-matched healthy control subjects. The quantitative parameters of ONH structure were compared using the Heidelberg Retina Tomograph 2 (HRT2) and Spectralis optical coherence tomography with an enhanced depth imaging method.ResultsThe mean and maximum cup depths of CON were significantly smaller than those with GON (P < 0.001 and P < 0.001, respectively). The distance between Bruch's membrane opening and anterior surface of the lamina cribrosa (BMO-anterior LC) of CON was also significantly smaller than that of glaucoma but was similar to that of the healthy group (P < 0.001 and P = 0.47, respectively). Based on Moorfields regression analysis of the glaucoma classification of HRT2, 15 eyes with CON were classified with a glaucoma-like disc. The cup/disc area ratio did not differ between cases of CON with a glaucoma-like disc and cases of GON (P = 0.16), but the BMO-anterior LC and mean and maximum cup depths of CON cases with a glaucoma-like disc were smaller than those in GON (P = 0.005, P = 0.003, and P = 0.001, respectively).ConclusionsMeasurements of the cup depths and the LC depth had good ability to differentiate between CON with a glaucoma-like disc and glaucoma. There was no laminar remodeling detected by laminar surface position in the patients with CON compared to those with GON.
| S-EPMC4223062 | biostudies-literature
Project description:BackgroundCavernous hemangioma are the most common benign lesions of the orbit. Their surgical resection is still challenging and several surgical approaches have been proposed.Case descriptionWe present the case of a 59-year-old woman with a cavernous hemangioma of the orbital apex, which was diagnosed incidentally. The hemangioma was extraconal and involved mainly the medial orbital apex; it also extended to the pterygoid fossa, to the middle fossa, to the maxillary and sphenoid sinuses. The surgical resection was performed by a pure endoscopic transphenoidal, transmaxillary, transethmoidal approach, achieving a total removal. The patient had a transient and incomplete paresis of the VI cranial nerve on the left side and did not experience other postoperative complications.ConclusionThe endoscopic endonasal approach proved successful in the management of this case and it should be considered in the surgical management of extraconal orbital apex lesions with medial or inferior extension.
| S-EPMC3114373 | biostudies-literature
Project description:Clinical diagnoses of slow, progressive, painless visual losses with various degrees of visual field (VF) losses and disc atrophy are often confused between suprasellar compressive optic neuropathy (CON) and open-angle glaucomatous optic neuropathy (GON). We plotted the thickness of the peripapillary retinal nerve fiber layer (RNFL) and macular ganglion cell-inner plexiform layer (GCIPL) against the mean deviation (MD) of the VF of 34 eyes of CON at diagnosis, 30 eyes of CON after therapy, 29 eyes of GON, and 60 eyes of healthy controls in a cross-sectional investigation. At diagnosis, a disproportionally early pattern of structural thinning compared with the corresponding VF losses was unique to CON. GON- and CON-specific thinning parameters were generally useful in differentiating GON and CON from moderate to severe MD losses, but early MD losses (0 to - 6 dB) overlapped with GON in a CON-stage specific manner. GON-specific thinning parameters, RNFL in the inferior sector, and inferior to temporal macular GCIPL ratio showed overlap with posttreatment CON in the early MD losses with AUCs of 0.916 (95% CI 0.860-0.971; P < 0.001) and 0.890 (95% CI 0.811-0.968; P < 0.001), respectively. In comparison, CON-specific thinning parameters, superonasal, and inferonasal GCIPL showed overlap with CON at diagnosis for early MD losses. Overall, the nasal-to-temporal macular GCIPL ratio showed good discrimination between CON and GON throughout the MD range, with an AUC of 0.923 (95% CI 0.870-0.976; P < 0.001). Comparing GON with all stages of CON, the cut-point of 0.95 showed the lower nasal-to-temporal GCIPL ratio had a sensitivity of 72% and specificity of 90% for CON. However, the cut-point of 1.10 showed the superior-to-inferior GCIPL ratio had a sensitivity of 60% and specificity of 98% for GON.
| S-EPMC9042947 | biostudies-literature
Project description:PurposeTo compare macular damage in glaucomatous optic neuropathy (GON) and compressive optic neuropathy (CON) and assess its diagnostic accuracy in distinguishing between diseases.MethodsObservational, cross-sectional, single-center study. Patients with GON, CON, and healthy controls were included according to the eligibility criteria. An automated spectral-domain optical coherence tomography (SD-OCT) algorithm was used to segment the circumpapilary retinal nerve fiber layer (cpRNFL) and macula. The layer thickness was measured in each sector according to the Early Treatment Diabetic Retinopathy Study and the 6-sector Garway-Heath-based grids. Data was compared across all study groups, and the significance level was set at 0.05.ResultsSeventy-five eyes of 75 participants, 25 with GON, 25 with CON, and 25 healthy controls (CG), were included. Macular thickness was diminished in the ganglion cell complex of GON and CON patients compared to CG (p<0.05). The best Garway-Heath-based grid parameters for distinguishing GON and CON were the nasal-inferior (NI) and nasal-superior sectors and the NI/temporal inferior (TI) damage ratios in the macular ganglion cell (mGCL) and inner plexiform (IPL) layers. Moreover, the combination of the NI sector and NI/TI damage ratios in both layers had higher discriminative power (AUC 0.909; 95% CI 0.830-0.988; p<0.001) than combining parameters in each layer separately.ConclusionOur findings suggest that the evaluation of macular segmented layers damage by SD-OCT may be a helpful add-on tool in the differential diagnosis between GON and CON.
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Project description:Sinus of Valsalva aneurysm (SOVA) is a rare clinical entity. Clinical manifestations can vary from an incidental finding on an imaging study to a life-threatening emergency. We report a case of a 51-year-old female with a large symptomatic left SOVA. Echocardiogram and computed tomography angiography (CTA) of the chest revealed marked dilatation of the left sinus of Valsalva, measuring 7.5 cm. This resulted in superior displacement of the left main coronary artery. Surgical repair of the aneurysm with reimplantation of the right and left coronary arteries was performed in addition to aortic valve replacement (Bentall procedure). The patient had an uneventful postoperative course and remains asymptomatic at the three-month follow-up visit.
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Project description:Pathological variants in the nuclear malonyl-CoA-acyl carrier protein transacylase (MCAT) gene, which encodes a mitochondrial protein involved in fatty-acid biogenesis, have been reported in two siblings from China affected by insidious optic nerve degeneration in childhood, leading to blindness in the first decade of life. After analysing 51 families with negative molecular diagnostic tests, from a cohort of 200 families with hereditary optic neuropathy (HON), we identified two novel MCAT mutations in a female patient who presented with acute, sudden, bilateral, yet asymmetric, central visual loss at the age of 20. This presentation is consistent with a Leber hereditary optic neuropathy (LHON)-like phenotype, whose existence and association with NDUFS2 and DNAJC30 has only recently been described. Our findings reveal a wider phenotypic presentation of MCAT mutations, and a greater genetic heterogeneity of nuclear LHON-like phenotypes. Although MCAT pathological variants are very uncommon, this gene should be investigated in HON patients, irrespective of disease presentation.
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Project description:OBJECTIVE:Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, with a prevalence of 1:12,000 to 1:25,000. OPA1 mutations are found in 70% of DOA patients, with a significant number remaining undiagnosed. METHODS:We screened 286 index cases presenting optic atrophy, negative for OPA1 mutations, by targeted next generation sequencing or whole exome sequencing. Pathogenicity and molecular mechanisms of the identified variants were studied in yeast and patient-derived fibroblasts. RESULTS:Twelve cases (4%) were found to carry novel variants in AFG3L2, a gene that has been associated with autosomal dominant spinocerebellar ataxia 28 (SCA28). Half of cases were familial with a dominant inheritance, whereas the others were sporadic, including de novo mutations. Biallelic mutations were found in 3 probands with severe syndromic optic neuropathy, acting as recessive or phenotype-modifier variants. All the DOA-associated AFG3L2 mutations were clustered in the ATPase domain, whereas SCA28-associated mutations mostly affect the proteolytic domain. The pathogenic role of DOA-associated AFG3L2 mutations was confirmed in yeast, unraveling a mechanism distinct from that of SCA28-associated AFG3L2 mutations. Patients' fibroblasts showed abnormal OPA1 processing, with accumulation of the fission-inducing short forms leading to mitochondrial network fragmentation, not observed in SCA28 patients' cells. INTERPRETATION:This study demonstrates that mutations in AFG3L2 are a relevant cause of optic neuropathy, broadening the spectrum of clinical manifestations and genetic mechanisms associated with AFG3L2 mutations, and underscores the pivotal role of OPA1 and its processing in the pathogenesis of DOA. ANN NEUROL 2020 ANN NEUROL 2020;88:18-32.
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Project description:This case report discusses the ophthalmic complications of frontal sinus mucoceles and describes the favorable long-term surgical outcomes of a combined endoscopic and upper-lid skin crease drainage approach carried out jointly with otorhinolaryngology. A 47-year-old single mother presented to eye casualty with markedly swollen eyelids and visual acuity of 6/6 in the left eye, no perception of light in the right. Ophthalmic examination revealed right-sided hypoglobus and proptosis with exposure keratopathy inferiorly. There was complete ophthalmoplegia in the right eye and a hemorrhagic optic disc visible on fundoscopy. CT orbit with contrast confirmed a diagnosis of giant frontal mucocele with orbital extension. The patient underwent mucocele drainage via a modified anterior orbitotomy approach and FESS (Functional Endoscopic Sinus Surgery) drainage performed jointly with otorhinolaryngology. Two weeks post-operatively her proptosis was resolving and by three months she had regained full extraocular motility. As expected, vision was not restored in the right eye. At one year, the patient's upper lid skin crease scar was completely buried in the eyelid's natural contour, and repeat CT scanning confirmed no re-stenosis or mucocele recurrence. This case demonstrates, that a multidisciplinary approach to far-lateral frontal sinus mucoceles with orbital extension and ophthalmic complications which combines an upper lid skin crease incision with FESS drainage, allows adequate access to the frontal sinus while preserving cosmesis.
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