Evolution of an Astrocytic Hamartoma of the Optic Nerve Head in a Patient with Retinitis Pigmentosa - Photographic Documentation over 2 Years of Follow-Up

Aim

To report photographically the evolution of an astrocytic hamartoma of the left optic nerve head over a 2-year follow-up in a patient with retinitis pigmentosa.

Methods

A 14-year-old boy was seen in the medical retina clinic with a 3-year history of night blindness. Best corrected visual acuity was 6/18 in both eyes. Colour vision was normal in both eyes and confrontation fields showed peripheral constriction. Fundus examination revealed bone spicule pigmentary changes at the retinal mid periphery typical of retinitis pigmentosa and superficial globules at the margins of both optic nerve heads. Electrodiagnostic tests confirmed moderately severe rod cone dystrophy with macular involvement bilaterally.

Results

Two years later, the ocular examination was unchanged except for the appearance of the optic nerve head lesion in the left eye. There was an increase in the size of the lesion which was diagnosed as an astrocytic hamartoma. Further investigations were recommended to exclude neurofibromatosis and tuberous sclerosis.

Conclusion

Astrocytic hamartomas of the optic nerve head and optic nerve head drusen have both been described in patients with retinitis pigmentosa. They can be a diagnostic dilemma although drusen are more common (10%). To differentiate these two entities it is very important to document any growth during the follow-up period which is suggestive of astrocytic hamartoma rather than optic disc drusen.Key Words: Astrocytic hamartoma, Optic disc drusen, Retinitis pigmentosa     

Bilateral posterior ischemic optic neuropathy in a patient with severe diabetic ketoacidosis

Purpose

To report a case of bilateral posterior ischemic optic neuropathy (PION) in a patient with severe diabetic ketoacidosis (DKA).

Design

Observational case report.

Participant

A 35-year-old male who suffered bilateral visual loss during a severe episode of DKA.

Methods

Neuro-ophthalmological examination, neuroimaging consisting of a CT scan and MRI of the brain and orbits, as well as a MRA of brain vessels.

Results

Bilateral PION was diagnosed in a 35-year-old male with no light perception vision, who emerged from a coma caused by severe DKA. The patient developed optic nerve pallor in both eyes 4 weeks after the initial examination. Visual acuity with no light perception in both eyes remained unchanged after 6 months’ follow-up.

Conclusions

Severe DKA can be complicated by bilateral PION, resulting in total blindness.Key Words: Diabetes, Ketoacidosis, Neuropathy, Posterior ischemic optic neuropathy     

Optic nerve lesions in diabetic rats:blood flow to the optic nerve, permeability of micro blood vessels and histopathology

AIM: To study optic nerve lesions, changes in blood flow to the optic nerve, and permeability of micro blood vessels and histopathology in diabetic rats. METHODS: Male Wistar rats (n=20) were randomly divided into control and diabetic groups. The diabetic model was prepared by a single injection of streptozotocin (50mg/kg) into the caudal vein. Three months later, laser Doppler perfusion imaging was used to observe the changes in blood flow to the optic nerve. Each rat was injected with 15g/L Evans blue (5μL/g). The permeability of microvessels in diabetic optic nerves was measured by spectrophotometry. Optic nerves were observed by light and transmission electron microscopy. RESULTS: Diabetic rats had atrophic optic nerve fibers with neurite swelling, loss of myelin, and a greater-than-normal proliferation of astrocytes, occurring within 3 months of induction of diabetes. Blood flow to the optic nerve was lower in diabetic rats than in controls. Microvessel permeability in diabetic rats increased 2.03-fold compared to controls. CONCLUSION: Diabetic rats develop significant pathological changes in the optic nerve, reduced blood flow to the optic nerve and increase microvessel permeability.     

Optic Nerve Sheath Meningioma in the First Decade of Life: Case Report and Review of the Literature

Background/Aim

Tumors of the optic nerve are mostly either optic nerve gliomas or optic nerve sheath meningiomas (ONSMs). While gliomas occur in children, most meningiomas are slow-growing tumors affecting middle-aged individuals with progressive visual loss, proptosis, disc edema and optociliary veins on fundus examination. ONSMs are extremely rare in children, with only 14 cases reported in children under the age of 10 years. The purpose of this study is to describe an additional case and review clinical, radiologic and histopathological findings that can help differentiate such tumors in children and allow an early and accurate diagnosis.

Case Report

An 8-year-old girl had a 2-year history of progressive proptosis and total visual loss on the right side. A computed tomography scan revealed a well-defined intraconal mass with perioptic calcification. Magnetic resonance imaging showed a tumor surrounding the optic nerve and extending intracranially, with enhancement following gadolinium injection. The patient was submitted to fronto-orbital craniotomy for complete tumor excision. Histological studies identified the neoplasm as ONSM.

Conclusions

Though unusual, ONSMs may occur in children and, in these cases, present a much more aggressive behavior than in adults. ONSM should therefore be differentiated from optic glioma in children because of its aggressive behavior and need for different treatment modalities.Key Words: Optic nerve neoplasms, Benign optic nerve sheath neoplasm, Meningioma     

Bilateral and Simultaneous Central Retinal Vein Occlusion in a Patient with Obstructive Sleep Apnea Syndrome

Purpose

To describe a case of bilateral and simultaneous central retinal vein occlusion (RVO) in a young patient diagnosed with obstructive sleep apnea syndrome (OSAS).

Case Report

A 38-year-old man with morbid obesity and daytime sleepiness presented with a history of bilateral vision loss. His visual acuity (VA) was hand movements, and fundus examination (FE) revealed bilateral central RVO. General medical examination revealed untreated hypertension and type II respiratory failure. Laboratory tests for thrombophilia showed increased hematocrit (59%) and high levels of fibrinogen and C-reactive protein. Other causes of congenital and acquired hypercoagulability were ruled out. Pathologic polysomnography led to the diagnosis of OSAS. The patient was treated with antihypertensive drugs and continuous positive air pressure. In addition, he received intravitreal ranibizumab. At 10 months after presentation, his VA was no light perception in the right eye and hand movements in the left eye. FE revealed bilateral retinal and optic nerve atrophy, and the occurrence of a nonarteritic anterior ischemic neuropathy in the right eye was considered.Key words: Central retinal vein occlusion, Obstructive sleep apnea syndrome, Visual acuity, Optic nerve atrophy     

A case of a young asymptomatic woman with optic disc drusen and vasculitis

Purpose

We present the case of a young woman with optic disc drusen and peripheral vasculitis.

Methods

Diagnosis was based on fundoscopic, optical coherence tomography as well as fluorescein angiography (FA) findings.

Results

An asymptomatic 34-year-old female patient with no systemic pathology was referred to our hospital from her optician for retinal findings. Fundoscopy revealed mild disc swelling that could be attributed to the presence of optic disc drusen in both eyes. There was fundoscopic evidence of periphlebitis in the periphery confirmed by FA findings.

Conclusions

In our case, the unique feature was the presence of optic disc drusen and retinal periphlebitis. The patient''s disc configuration may have contributed to a predisposition for vasculitis in addition to vessel tortuosity.Key words: Optic disc drusen, Retinal periphlebitis, Optical coherence tomography     

Local Treatment with Triamcinolone Acetonide and Bevacizumab for Ocular Symptoms in a Patient with POEMS Syndrome

Purpose

To report our experience in managing a case of bilateral optic disc oedema and unilateral cystoid macular oedema with a posterior subtenon (PST) injection of triamcinolone acetonide and intravitreal bevacizumab (IVB) in a patient with polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome.

Case Report

A 50-year-old healthy woman complaining of bilateral blurred vision for several days was referred to the ophthalmologist. An eye examination showed a bilateral optic disc swelling and small preretinal haemorrhages. In addition, a peripheral neuropathy was found. Laboratory tests showed elevated levels of M-protein type IgA of 1.4 g/l and a vascular endothelial growth factor (VEGF) concentration of 6.1 ng/ml. The cerebrospinal fluid protein content was 131 mg/dl. An abdominal CT scan revealed hepatosplenomegaly. The diagnosis of POEMS syndrome was made based on the polyneuropathy, hepatosplenomegaly, IgA lambda monoclonal proteinemia, and optic disc swelling. As vision declined, 40 mg PST injection of triamcinolone was given bilaterally. Ten weeks thereafter, 2 IVB injections of 2.5 mg were administered to the left eye, with a 4-week interval. Because of an incomplete recovery of her visual functions, diarrhoea and general malaise, melphalan, followed by autologous peripheral blood stem cell transplantation, was initiated. After systemic treatment, she had no visual complaints anymore, the optic disc oedema had resolved, and the VEGF serum concentration had normalized.

Discussion

Local treatment with IVB and PST injection of triamcinolone can be an option for ocular symptoms in POEMS syndrome. However, given the incomplete recovery of the ocular abnormalities and the other symptoms, systemic treatment remains standard.Key words: POEMS syndrome, Optic disc oedema, Macular oedema, Bevacizumab, Triamcinolone     

Papilledema in the setting of x-linked hypophosphatemic rickets with craniosynostosis

Purpose

Introduction to the ophthalmic literature of an unusual cause of papilledema and subsequent optic atrophy: X-linked hypophosphatemic rickets (XLH).

Methods

Case report of a 3-year-old female presenting with papilledema resulting from craniosynostosis secondary to XLH.

Results

Early intervention with craniofacial surgery prevented the development of optic atrophy.

Conclusion

Children with XLH should be screened for ophthalmic evidence of elevated intracranial pressure to aid early intervention and prevention of permanent loss of vision.Key words: Papilledema, Optic atrophy, Rickets, Craniosynostosis     

Macroaneurysm on the Optic Disc in a Patient with Aortic Dissection

Purpose

We report a case of macroaneurysm on the optic disc, a rare location, accompanied by vitreous hemorrhage in a patient with aortic dissection.

Methods

A 60-year-old female with a history of aortic dissection at the age of 51 presented with visual disturbance owing to vitreous hemorrhage in her right eye. During vitrectomy, we found a large macroaneurysm on the optic disc that was beating and oozing blood. However, the macroaneurysm was not treated.

Results

The macroaneurysm gradually shrunk, and the beating and oozing of blood disappeared accordingly.

Conclusion

Up to now, there have been no reports of macroaneurysm on the optic disc in aortic dissection patients. The association between macroaneurysm on the optic disc and aortic dissection is unclear; therefore, additional case reports may be necessary. To the best of our knowledge, our case is the first one reported in the literature.Key words: Macroaneurysm, Optic disc, Aortic dissection     

Surgical Management of Optic Disc Pit Maculopathy with Outer Retinal Hole

Objective

To report the successful outcome of a rare optic pit-associated maculopathy with an outer retinal hole following 23 G vitrectomy, internal limiting membrane (ILM) peeling and fluid-gas exchange without additional endolaser.

Method

Interventional case report.

Results

This case report documents a 56-year-old male patient with complaints of progressive diminution of vision in the right eye more than in the left eye due to an optic disc pit with an outer retinal hole and a cataract. Optical coherence tomography confirmed the presence of an outer retinal hole. The case report shows the successful outcome of a rare optic pit-associated maculopathy with an outer retinal hole and a cataract following phacoemulsification with 23 G vitrectomy, ILM peeling and fluid-gas exchange without additional endolaser.Key Words: Optic pit, Outer retinal hole, Retinoschisis, Vitrectomy     

Indentation and needle insertion properties of the human eye

Purpose

Characterization of the biomechanical properties of the human eye has a number of potential utilities. One novel purpose is to provide the basis for development of suitable tissue-mimicking material. The purpose of this study was to determine the indentation and needle insertion characteristics on human eye globes and tissue strips.

Methods

An indenter assessed the elastic response of human eye globes and tissue strips under increasing compressive loads. Needle insertion determined the force (N) needed to penetrate various areas of the eye wall.

Results

The results demonstrated that globes underwent slightly greater indentation at the midline than at the central cornea, and corneal strips indented twofold more than scleral strips, although neither difference was significant (P=0.400 and P=0.100, respectively). Significant differences were observed among various areas of needle insertion (P<0.001). Needle insertion through the anterior sclera (adjacent to the limbus) and posterior sclera (adjacent to the optic nerve) required the greatest amount of force (0.954 and 1.005 N, respectively). The force required to penetrate the central cornea (0.518 N) was significantly lower than all other areas except the midline sclera (0.700 N)

Conclusion

These data form the basis for further research into the development of a tissue-mimicking human eye construct with potential utility as a model for use in ophthalmology research and surgical teaching.     

Using ImageJ to Evaluate Optic Disc Pallor in Traumatic Optic Neuropathy

Purpose

To evaluate optic disc pallor using ImageJ in traumatic optic neuropathy (TON).

Methods

This study examined unilateral TON patients. The optic disc was divided into 4 quadrants (temporal, superior, nasal, and inferior), consistent with the quadrants on optical coherence tomography (OCT) retinal nerve fiber layer (RNFL) thickness maps. Optic disc photography was performed and disc pallor was quantified using gray scale photographic images imported into ImageJ software. The correlation between optic disc pallor and RNFL thickness was examined in each quadrant.

Results

A total of 35 patients (31 male, 4 female) were enrolled in the study. The mean participant age was 34.8 ± 15.0 years (range, 5 to 63 years). Overall RNFL thickness decreased in 6 patients, with thinning most often occurring in the inferior quadrant (28 of 35 eyes). There was a significant correlation between optic disc pallor and RNFL thickness (superior, rho = -0.358, p = 0.04; inferior, rho = -0.345, p = 0.04; nasal, rho = -0.417, p = 0.01; temporal, rho = -0.390, p = 0.02). The highest level of correspondence between disc pallor and RNFL thickness values outside of the normative 95th percentiles was 39.3% and occurred in the inferior quadrant.

Conclusions

Optic disc pallor in TON was quantified with ImageJ and was significantly correlated with RNFL thickness abnormalities. Thus, ImageJ evaluations of disc pallor may be useful for evaluating RNFL thinning, as verified by OCT RNFL analyses.     

Orbital Doppler evaluation of blood flow velocities in optic neuritis

Purpose

To evaluate orbital blood flow velocities and optic nerve diameter with Doppler and gray-scale sonography in patients with acute unilateral optic neuritis (ON).

Methods

Orbital Doppler and gray-scale sonography was performed in 46 eyes of 23 patients aged 19- to 47-years with acute unilateral ON. ON was diagnosed by an ophthalmologist on the basis of clinical presentation, presence of decreased visual acuity and assessment of visual evoked potentials. The peak systolic velocity (PSV) and end-diastolic velocity (EDV), as well as the resistance index (RI) and pulsatile index (PI) of the ophthalmic artery (OA), central retinal artery (CRA), posterior ciliary arteries (PCAs) and optic nerve diameter were measured in both eyes. We compared results from affected and unaffected eyes using the paired t-test. The area under the receiver operating characteristic (ROC) curves was used to assess the diagnosis of ON based on measured blood flow parameters of the OA, CRA and PCAs and optic nerve diameter.

Results

The mean (standard deviation) optic nerve diameter in eyes with ON was 4.1 (0.8) mm, which was significantly larger than the 3.0 (0.4) mm diameter measured in unaffected control eyes (p < 0.001). There were no differences in average PSV, EDV, RI, or PI of the OA and CRA between affected and unaffected eyes (p > 0.05). The mean RI in the PCAs was slightly lower in the eyes with ON than in the contralateral eyes (0.60 vs. 0.64, p < 0.05). The area under the ROC curves indicated that optic nerve diameter was the best parameter for the diagnosis of ON.

Conclusions

Optic nerve diameter was related to ON, but orbital blood flow parameters were not.     

Traumatic globe luxation with optic nerve transection

Luxation of the globe is a rare event that results from severe trauma to the orbit, often causing orbital rim and wall fractures. Though associated globe rupture often necessitates enucleation, repositioning of the globe can be attempted in these cases if the globe is intact. We report a case of globe luxation and optic nerve transection with its surgical management. A 17-year-old male presented with anterior luxation of the right globe and optic nerve transection following blunt trauma to the orbit. Computerized tomography revealed an anteriorly subluxated globe with complete transection of the optic nerve and multiple fractures of the orbital walls. The orbit was explored and the globe repositioned in the orbit with reattachment of the muscles. Postoperatively, the globe was in normal position with moderate motility and excellent overall cosmesis. Though the visual prognosis in these cases is usually extremely poor and depends on the extent and duration of injury, preservation of the globe not only helps the patient recover psychologically from the trauma but also allows better cosmesis.     

Traumatic globe luxation with optic nerve transection

Luxation of the globe is a rare event that results from severe trauma to the orbit, often causing orbital rim and wall fractures. Though associated globe rupture often necessitates enucleation, repositioning of the globe can be attempted in these cases if the globe is intact. We report a case of globe luxation and optic nerve transection with its surgical management. A 17-year-old male presented with anterior luxation of the right globe and optic nerve transection following blunt trauma to the orbit. Computerized tomography revealed an anteriorly subluxated globe with complete transection of the optic nerve and multiple fractures of the orbital walls. The orbit was explored and the globe repositioned in the orbit with reattachment of the muscles. Postoperatively, the globe was in normal position with moderate motility and excellent overall cosmesis. Though the visual prognosis in these cases is usually extremely poor and depends on the extent and duration of injury, preservation of the globe not only helps the patient recover psychologically from the trauma but also allows better cosmesis.     

Agreement in identification of glaucomatous progression between the optic disc photography and Heidelberg retina tomography in young glaucomatous patients

AIM:To evaluate concordance between the clinical assessment of glaucomatous progression of the optic disc photography and progression identified by Heidelberg Retina Tomograph (HRT) in patients with suspected primary juvenile open angle glaucoma (JOAG).METHODS:Optic disc photographs and corresponding HRT Ⅱ series were reviewed. Optic disc changes between first and final photographs were noted as well as progression identified by HRT topographic change analysis (TCA) and rim area regression line (RARL) Agreement between progression indentified by photography and HRT methods was assessed. Progression, determined from optic disc photographs by consensus assessment was used as the reference standard.RESULTS: A total of 31 patients (59 eyes) with suspected JOAG were studied. Agreement for progression/no progression between TCA and photography was obtained in 4 progressing eyes and 38 stable eyes (71.19%, k=0.11). Agreement for progression/no progression between RARL and photography was detected in 5 progressing eyes and in 34 stable eyes (66.10%, k=0.15). The number of HRT per patient was statistically higher in the progressing group (P=0.034).CONCLUSION:Agreement for detection of longitudinal changes between photography and HRT analysis was poor. One way to improve the chance of discovery of the progression could be increasing the number of HRT examinations.     

Analyses of shape of eyes and structure of optic nerves in eyes with tilted disc syndrome by swept-source optical coherence tomography and three-dimensional magnetic resonance imaging

Purpose

To evaluate the deeper structures of the optic nerve and to analyze the shape of eyes with tilted disc syndrome (TDS) by swept-source optical coherence tomography (OCT) and three-dimensional magnetic resonance imaging (3D MRI).

Methods

The medical records of 54 eyes of 36 patients with TDS were reviewed. The patients with TDS and high myopia were analyzed separately from those without high myopia. All the eyes were examined with a swept-source OCT, and 22 of the eyes were examined by 3D MRI.

Results

A total of 38 eyes of 29 patients were highly myopic and 16 eyes of 15 patients were not highly myopic. The representative OCT findings of the optic disc were: a sloping of the lamina cribrosa posteriorly from the upper part to the lower part, a protrusion of the upper edge of Bruch''s membrane, and choroid. The distance and the depth of the most protruded point from the fovea were significantly greater in the eyes with non-highly myopic TDS than those with highly myopic TDS. In the 3D MRI, the lower part of the posterior segment was protruded outward, and the optic nerves attached at the upper nasal edge of the protrusion.

Conclusions

The abnormalities detected by swept-source OCT and 3D MRI analyses indicate the possibility that the essential pathology of TDS is a deformity of the inferior globe below the optic nerve, and the positional relation between the fovea and the inferior protrusion determines the degree of myopia.     

Short-term changes in the optic nerve head and visual field after trabeculectomy

Aims or Purpose

To evaluate short-term changes in optic nerve head topography and visual field induced by surgical reduction of intraocular pressure.

Methods

A prospective study was performed on 56 eyes of 56 patients with uncontrolled primary open-angle glaucoma despite maximum medical therapy, which underwent trabeculectomy. Optic nerve head evaluations by means of Heidelberg Retina Tomograph, and visual field tests were performed pre-operatively, and at 3 and 6 months after surgery. Differences in intraocular pressure, visual field indices, and Heidelberg Retina Tomograph parameters were evaluated with the t-test for paired data. A linear regression model was calculated to analyze the relationship between intraocular pressure reduction and visual field changes, and optic nerve head changes.

Results

Mean intraocular pressure decreased from 24.4±5.0 mm Hg to 12.1±3.1 mm Hg (month 3, P<0.001), and 10.6±2.8 mm Hg (month 6, P<0.001) after trabeculectomy. Mean retinal nerve fiber layer thickness (baseline, 0.19±0.034; month 3, 0.24±0.039, P=0.05; month 6, 0.21±0.037, P=0.05) showed a statistical significant change compared with baseline values.

Conclusions

In this 6-months study, a significant increase in retinal nerve fiber layer thickness was detected after glaucoma filtration surgery.     

Double-Vitrectomy for Optic Disc Pit Maculopathy

Background

The origin of the fluid and precise pathophysiology of optic pit maculopathy remain unclear. It has been suggested that submacular fluid originates either from vitreous or cerebrospinal fluid. We report a case of optic pit maculopathy which was unsuccessfully treated with vitrectomy and internal limiting membrane (ILM) peeling, and subsequently resolved with revision of vitrectomy and gas tamponade.

Methods

We report a case of optic disc pit maculopathy, well documented by spectral- domain optical coherence tomography, before and after pars plana vitrectomy with ILM peeling, and its revision with gas tamponade.

Results

After ILM peeling, there was no improvement either in visual acuity or in the tomographic aspect of the retina. A revision of the surgery was then needed and gas tamponade was performed, which resulted in a complete resolution of the optic pit maculopathy.

Conclusion

The absence of improvement after ILM peeling during the first surgical procedure, accompanied by resolution of the clinical picture with gas tamponade during the second surgical procedure, sustained the hypothesis of a subarachnoidal origin of the fluid.Key Words: Optic pit maculopathy, Internal limiting membrane peeling, Gas tamponade