Progressive Bilateral Visual Loss Research Articles

Macular and retinal dysfunction of unknown origin in adults with normal fundi: Evidence for an autoimmune pathophysiology

Here we report the discovery of and phenotypic characterization of a retinal disorder of unknown origin in adults using clinical, electrophysiological and psychophysical techniques, and to seek the presence of circulating retinal autoantibodies in the sera of these patients. Sixteen patients were identified with progressive bilateral visual loss over a period of months. Ten of the patients were male, and the average age was 55.3 years (range from 43 to 76 years). Known causes such as carcinoma-associated retinopathy, acute zonal occult outer retinopathy and hereditary cone dystrophy appeared unlikely. Investigations included electrophysiology, fundus autofluorescence imaging and psychophysical tests. The sera of these patients were analyzed with indirect immunocytochemistry and Western immunoblot analysis on murine (BALB/c) retinal tissue for the presence of retinal autoantibodies. Bilateral visual loss and photophobia progressed over a period of months to years (average 28.7 months, range 3–67) and subsequently stabilized. No abnormality was observed by biomicroscopy, angiography or autofluorescence imaging. Electrophysiology indicated predominant cone-system dysfunction, either macular or generalized, and post-phototransduction involvement in 9 patients (56%). Photopic and scotopic visual fields and dark adaptation kinetics showed both cone and rod system involvement in all cases. Heterogeneous immunohistochemical staining patterns were seen with the sera of these patients as compared with controls. A majority of the affected patients (9/15) stained with an antinuclear pattern. The retinal autoantibodies from the sera of most patients reacted with the retinal proteins of molecular weight between 34 and 40 kDa. The aetiology of this distinctive retinal disorder therefore appears to be mediated through an autoimmune mechanism.

VISUAL PATHWAY COMPROMISE AFTER HYDROCOIL TREATMENT OF LARGE OPHTHALMIC ANEURYSMS

Hydrogel-coated coils (MicroVention, Inc., Aliso Viejo, CA) for endovascular aneurysm treatment offer the theoretical advantages of increased volumetric occlusion, thrombus stabilization, and improved neointimal healing. Reports of local inflammation and hydrocephalus after coiling of unruptured aneurysms have raised questions about the safety profile or appropriate usage of these new devices. Two patients with large ophthalmic aneurysms underwent elective endovascular coiling with HydroCoils. Three to 4 weeks later, they developed profound, progressive bilateral visual loss. Magnetic resonance imaging scans demonstrated extensive enhancement of the coil ball, surrounding brain parenchyma, and optic chiasm, with perianeurysmal edema. Dexamethasone produced impressive but temporary improvement in vision in one patient; the other experienced only minor improvement. One patient also developed hydrocephalus; ventriculoperitoneal shunting reduced ventricular size but had no effect on vision. Follow-up imaging demonstrated persistent enhancement of the coil ball, as well as recurrence and extension of the abnormal signal in the parenchyma and along the optic tract. Both patients have been left with no functional vision in the eye ipsilateral to the aneurysm and have experienced marked visual field loss and reduced acuity in the contralateral eye. Ongoing international studies will provide more information on the rate of inflammatory complications. The biological mechanisms underlying the phenomenon also require investigation. Meanwhile, we caution against using HydroCoils in situations in which worsened mass effect or local inflammation would have highly deleterious consequences, such as in large aneurysms adjacent to the visual pathways or the brainstem.

Perineural Metastasis of Breast Cancer Treated With Optic Nerve Sheath Fenestration

A 36-year-old woman with bilateral optic neuropathy and orbital and central nervous system metastasis from breast carcinoma developed progressive bilateral vision loss with severe optic disc swelling. She underwent optic nerve sheath fenestration of the left eye resulting in modest improvement in vision and resolution of disc edema. Optic nerve sheath fenestration is a known treatment for papilledema, but its effectiveness as a treatment for an optic neuropathy caused by perineural or intrasheath metastasis is less clear. Optic nerve sheath fenestration should be considered as a treatment option for an optic neuropathy caused by perineural or intrasheath metastasis, especially in cases where alternative treatments are not tolerated and visual loss is severe at presentation.

Vogt-Koyanagi-Harada Syndrome in a Case of Multiple Sclerosis

A 34-year-old woman in whom multiple sclerosis (MS) had been diagnosed 2 years earlier developed progressive bilateral visual loss associated with peripapillary exudative retinal detachment and other features of Vogt-Koyanagi-Harada (VKH) syndrome. She was treated with corticosteroid pulses and interferon beta-1A with visual acuity improvement and resolution of the retinal detachment. This is the first reported case of VKH syndrome in a patient with MS. The combination of VKH syndrome and MS suggests a common autoimmune pathogenesis.

Did Edgar Degas Have an Inherited Retinal Degeneration?

Objective: Retrospective analysis of the famous painter Edgar Degas' eye disease. Design: A historical review and analysis based on Degas' paintings and letters exchanged between the painter and his friends and family members, as well as on the chronicles of his associates. DeGas-Musson family papers at the Howard-Tilton Library of Tulane University are also reviewed. Results: Degas had an eye disease that was first noticed in 1870 and that progressed throughout his life. He suffered from progressive bilateral central visual loss and light sensitivity which was most acutely recognized while he was visiting his mother's side of the family in New Orleans where he could not paint outside because of the bright sun. Edgar's maternal first cousin, Estelle Musson, also suffered gradual bilateral visual loss, and was also known to have light sensitivity early in her life. Estelle became totally blind in her early 30s. Both Edgar and Estelle were otherwise healthy and lived long lives. Conclusion: It is likely that Edgar Degas and his cousin Estelle Musson had a hereditary retinal degeneration primarily affecting their central vision. Degas' retinal disease undoubtedly affected his life and his art but did not prevent him from being one of the most admired painters of all times.

Limbal Stem Cell Deficiency in the Context of Autoimmune Polyendocrinopathy

To report two sisters with bilateral progressive visual loss and photophobia secondary to stem cell deficiency due to multiple endocrine deficiency. Case reports and review of medical literature. The younger sister had severe photophobia and decreased visual acuity since May 2000. Despite multiple outpatient visits no definite cause was found and conservative treatments failed. On slit lamp examination severe meibomian gland dysfunction, loss of eyelashes, decreased tear meniscus, diffuse corneal vascularization, and delayed punctate fluorescein staining of corneal epithelium were detected. She also had episodes of hypotension, oral candidiasis, and seizures. Her systemic workup revealed multiple endocrine deficiency (Addison's disease and hypoparathyroidism). Hormone replacement therapy with fludrocortisone and oral calcium accompanied by punctual occlusion led to significant clinical recovery . The older sister showed a similar pattern but interestingly the onset was later and the signs and symptoms were milder. In the pediatric age group with diffuse corneal vascularization and no definite cause, systemic workup should be done to rule out multiple endocrine deficiencies. The therapy consists of hormone replacement therapy and management of dry eye.

Autoimmune Retinal Dysfunction in Sarcoid Chorioretinopathy

Visual loss, photophobia and night-blindness in a middle-aged patient with a previous history of cancer are highly suggestive of cancer-associated retinopathy. A 63-year-old man complained of slowly progressive bilateral visual loss, photophobia and night-blindness. His past medical history was remarkable for surgical and medical treatment of a carcinoma of the base of his tongue nine years earlier. Visual acuity was 0.3 RE and 0.15 LE, with constricted visual field in both eyes. Ocular examination and fluorescein angiography were non-relevant. Electroretinography revealed diffuse cone and rod dysfunction. ICG angiography showed multiple small widespread hyperfluorescent spots. A chest CT scan revealed multiple focal lesions which were biopsied. Histological diagnosis was sarcoidosis. Upon systemic steroid therapy, visual function gradually improved, and ICG anomalies disappeared. Vision recovered to 1.0 RE and 0.8 LE with normal visual field in both eyes. Sarcoidosis may present as an autoimmune retinal dysfunction with photophobia and night blindness as the presenting symptoms.

Keratitis Associated With Multiple Endocrine Deficiency

To report an 8-year-old girl with bilateral progressive visual loss and photophobia secondary to stem cell deficiency as a result of multiple endocrine deficiency. A case report and review of medical literature. The patient suffered from severe photophobia and decreased visual acuity since May 2000. Despite multiple outpatient visits, no definite cause was found, and conservative treatments failed. On slit-lamp examination severe meibomian gland dysfunction, loss of eyelashes, decreased tear meniscus, diffuse corneal vascularization, and delayed punctate fluorescein staining of corneal epithelium were detected. She had also episodes of hypotension, oral candidiasis, and seizures. Her systemic work up revealed multiple endocrine deficiency (Addison disease and hypoparathyroidism). Hormone replacement therapy with fludrocortisone and oral calcium accompanied by punctual occlusion led to significant clinical recovery. In a pediatric patient with diffuse corneal vascularization and no definite cause, systemic workup should be done to rule out multiple endocrine deficiencies. Treatment consists of hormone replacement therapy and management of the dry eye.

Bilateral Proptosis, Ptosis, and Vision Loss

Abstract: A slowly progressive bilateral proptosis, chemosis, and vision loss are protean manifestations of Graves ophthalmopathy (GO). We describe a patient who had an indolent course with such manifestations and was diagnosed with GO. However, vision loss resulting from central retinal artery occlusion, thickening of the belly, as well as tendons of extraocular muscles on computed tomography and worsening with methyl prednisolone therapy defied the diagnosis of GO. It turned out to be mucorales invasion in rhinoorbital tissues in an immunocompetent subject.

Paquimeningite hipertrófica idiopática craniana associada a pseudotumor orbitário: relato de caso

Hypertrophic pachymeningitis is a rare disorder characterized by meningeal thickness, that can be caused by infection, tumoral infiltration, inflammatory disorders or idiopathic. We report the case of a 40 year-old man that presented with longstanding headache and progressive bilateral visual loss and proptosis. Cranial and orbital magnetic resonance imaging revealed diffuse dural thickness and bilateral extraconal orbital lesion. Extensive investigation did not reveal any systemic condition. Histopathological study after meningeal and orbital biopsy disclosed a chronic inflammatory process compatible respectively with idiopathic hypertrophic pachymeningitis (IHP) and orbital pseudotumor. This case emphasizes that orbital involvement can occur in IHP and that its early identification is of great importance in order to improve the visual prognosis of this condition.

Radiology Quiz Case 4

A 27-YEAR-OLD BOY PRESENTED WITH HEARing loss. He had a 20-year history of progressive bilateral visual loss. Bilateral decompression of the optic nerves had been performed 10 years earlier, with no improvement in visual acuity. The patient, who developed precocious puberty when he was 10 years old, also had abnormal skin pigmentation and epilepsy. Physical examination revealed a progressive “football-like” deformity of the cranial cavity and pathologic fractures of the legs that had occurred after minimal trauma. Because the patient’s external auditory canals were very narrow, the tympanic membrane could not be explored in either ear. Tonal audiometry showed normal hearing levels in the right ear and a mild conductive hearing loss in the left ear. A computed tomographic scan showed diffuse involvement of the skull base, with a heterogeneous pattern of sclerotic, cystic, and pagetoid changes. Both temporal bones were irregular and asymmetrically affected, with only narrow portions of perilabyrinthine bone involved (Figures 1, 2, and 3). What is your diagnosis?

Bilateral Optic Perineuritis Developing with Intracranial Fibrillary Astrocytoma

Optic perineuritis is an uncommon variety of orbital inflammatory disease. A case with a 45-day history of headache and vomiting who was diagnosed with fibrillary astrocytoma of the right frontal lobe is reported. Progressive bilateral visual loss developing postoperatively was considered as bilateral optic perineuritis based on the pathological and radiological findings. However, extensive medical and surgical therapy failed to recover visual loss. By this case, the mechanisms and difficulties in the diagnosis were discussed.

Leber's hereditary optic neuropathy: case report and literature review

Leber's hereditary optic neuropathy is an important cause of progressive painless visual loss among young male patients. To report on a case of a young patient with a clinical and neurophysiological condition suggestive of Leber's hereditary optic neuropathy, confirmed by genetic testing. We describe a 17-year-old male with progressive bilateral visual loss. Two maternal uncles had had similar patterns of visual loss. The patient had a history of smoking and alcohol abuse. Neuro-ophthalmological examination revealed visual acuity of 20/800 in both eyes, with decreased direct and consensual pupillary light reflexes. Fundus examination demonstrated pale optic discs. The visual evoked potential test showed signs of conduction disturbances in both optic nerves and campimetric study showed complete visual loss in all fields of both eyes. A diagnosis of bilateral optic neuropathy with a clinical suspicion of Leber's hereditary optic neuropathy was made. A blood sample was submitted to genetic analysis in relation to the principal mutations of this disorder, and homoplasmic mutation in 11778 was detected, thereby confirming the diagnosis of Leber's hereditary optic neuropathy.

Postoperative progressive visual loss

A 61-year-old man was admitted with postoperative progressive bilateral visual loss following a parasagittal meningioma resection. No risk factor predisposing to an ischemic optic neuropathy was present and routine radiologic examinations did not reveal any pathology of the central or peripheral visual pathways. Mucin-positive adenocarcinoma cells were detected in the cytological examination and orbital MRI revealed metastatic infiltration of the optic chiasm and optic nerves. The primary site of the malignancy could not be established.

Postoperative progressive visual loss

Abstract A 61-year-old man was admitted with postoperative progressive bilateral visual loss following a parasagittal meningioma resection. No risk factor predisposing to an ischemic optic neuropathy was present and routine radiologic examinations did not reveal any pathology of the central or peripheral visual pathways. Mucin-positive adenocarcinoma cells were detected in the cytological examination and orbital MRI revealed metastatic infiltration of the optic chiasm and optic nerves. The primary site of the malignancy could not be established.

Progressive Bilateral Visual Loss in a Young Adult

Progressive Bilateral Visual Loss in a Young Adult

La rétinopathie pigmentaire à la recherche d’une approche thérapeutique

Non syndromic forms of Retinitis Pigmentosa (RP) constitute a collection of clinically and genetically heterogeneous inherited retinal degenerative diseases. They are characterized by a bilateral progressive visual loss susceptible to cause blindness. These diseases are transmitted through pedigrees according to all known modes of inheritance. They are bilateral and usually start during infancy. However, very early clinical presentations exist, such as those observed in children affected by Leber Congenital Amaurosis, as well as late onset autosomal dominant forms of retinitis pigmentosa. The characteristic clinical aspect of the rod-cone RP dystrophies is marked by alterations of the peripheral retina associated with a night blindness and a progressive narrowing of the visual field. The ophthalmoscopic examination of RP patients commonly reveals thin retinal arteries and scattered pigmentary accumulations. In contrast, there are cone rod retinal dystrophies whose onset is marked by a decreased visual acuity before the appearance of any visual field alteration. Some forms of RPs display an ocular fundus devoid of any pigmentary alteration. Syndromic forms of RPs are not uncommon. The association of deafness with RP is detected in nearly 30% of the patients. Other associations with RP can include mental deficiency, facial dysmorphy, microcephaly, obesity, kidney deficiency, immune deficiencies, metabolic disorders. The existence of such syndromic forms of RP localizes RPs at the crossroad of several medical specialties. A long lasting collaboration between our department of ophthalmology and the department of medical genetics of the Necker-Sick Children Hospital has allowed us to establish numerous genotype-phenotype correlations, especially in LCA and Stargardt's disease. ABCR gene mutations cause Stargardt disease. ABCR mutations may also cause some types of Ages Related Macular Degenerations (AMD). Nowadays, there is no known efficient therapy available for patients affected by RP. Gene therapies hold promises of treatment for patients affected by some of these diseases for the next decade. In a not too far future, the use of pharmacological drugs increasing a better intracellular oxygen availability, without triggering any harmful production of free radical oxygen species (ROS), while exerting an anti-apoptotic effect within photoreceptor cells, appears to be a therapeutical strategy deserving to be tested in an appropriately designed clinical trial. For the present time, optical and electronical devices as well as night-vision glasses are the only possible tools allowing to improve the quality of life of some patients.

Proptose causada por adenoma pituitário gigante: relato de caso

PURPOSE: To describe the unusual occurrence of unilateral proptosis associated with oculomotor palsy and blindness, caused by a giant pituitary adenoma. METHODS: The patient was submitted to clinical and ophthalmologic examination, visual field, magnetic resonance imaging and histopathological study after surgical intervention for the removal of the tumor. RESULTS: A 21-years-old woman had progressive bilateral visual loss, associated with proptosis and limitation of ocular motility of the left eye. Visual field examination revealed a complete temporal hemianopsia in the right eye and no light perception in the left eye. Magnetic resonance imaging showed a large tumor infiltrating the III ventricule, cavernous sinus and orbital apex. The histopathological study revealed a pituitary adenoma producing prolactin and growth hormone without signs of malignancy. CONCLUSIONS: This case is of interest not only because it documents the extremely rare occurrence of orbital involvement by a pituitary tumor but also because it emphasizes the need of an early diagnosis of invasive adenomas since such tumors not necessarily follow a benign clinical course despite their histologically benign nature.

Eye diseases in mitochondrial encephalomyopathies

Mitochondria are the principal site of generation of energy in form of adenosine triphosphate (ATP). They contain the enzymes of the Krebs and fatty acid cycles and the respiratory pathway. Ocular tissues with high energy consumption and dependence on oxidative energy production like the optic nerve, the retina, and the pigment epithelium are often involved in mitochondrial diseases. This article reviews the genetic mitochondrial diseases involving the visual system. Their most important ocular findings include: acute or slowly progressive bilateral visual loss and visual field loss due to an optic neuropathy or retinal degeneration, bilateral progressive decreased ocular motility, and bilateral upper lid ptosis. The following diseases are discussed: Leber's Hereditary Optic Neuropathy (LHON); Kearns-Sayre Syndrom (KSS); Chronic Progressive External Ophthalmoplegia (CPEO); Autosomal Recessive Cardiomyopathy, Ophthalmoplegia (ARCO); Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS); Neuropathy, Ataxia, Retinitis Pigmentosa (NARP); Mitochondrial Neuropathy, Gastro-Intestinal Encephalomyopathy (MNGIE); Myoclonus Epilepsy, Ragged-Red-Fibers (MERRF); Wilson's disease; Friedreich's ataxia. Diagnosis of mitochondrial encephalomyopathies is established by screening for mutations in blood or muscle biopsy samples. No specific therapies which influence the course of mitochondrial encephalomyopathies are known. Drugs interacting with the mitochondria function, alcohol consumption and smoking should be avoided.

Progressive Visual Loss and Ophthalmoplegia

A 51-year-old woman with hyperthyroidism presented with a 4-week history of bilateral progressive visual loss despite treatment with oral prednisone. Her visual function improved after bilateral orbital decompression. The indications for and advantages and disadvantages of radiation therapy and orbital decompression in TAO are discussed. The management of intraocular pressure, strabismus, and lid abnormalities in TAO is also addressed.