Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Optic Atrophy”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 991 records · Page 55Linked to original sources
PubMed1982

[Posterior acute ischemic optic neuropathy (author's transl)].

Posterior acute ischemic neuropathy is a new and distinct clinical entity. This syndrome associate unilateral visual disturbance with arcuate or altitudinal defect. Ocular ophthalmoscopic examination and fluorescein fundus angiography are normal at the onset of the disease. Later develop varied degrees of optic atrophy. Association with anterior optic acute ischemic neuropathy on the other eye is possible. Systemic lupus erythematosus, periarteritis nodosa, temporal arteritis, and arteriosclerosis are often involved. Study of three personal cases. Discussion on pathogenesis.

Acute Disease↗
PubMed2002

Methotrexate-induced optic neuropathy.

A 53-year-old Caucasian woman with long-standing, well controlled, severe rheumatoid arthritis, treated with methotrexate, salazopyrin, naprosyn, prednisone and plaquenil, presented with progressive visual loss in each eye. She had a past history of non-necrotizing anterior scleritis that was treated with increased doses of prednisone. She developed left then right central scotomas, reduced vision and optic atrophy. Eventually a diagnosis of methotrexate-induced optic atrophy was made.

Antirheumatic Agents↗
PubMed1990

Glaucomatous optic nerve atrophy in small discs with low cup-to-disc ratios.

Glaucomatous optic nerve damage has generally been associated with high cup-to-disc ratios. Fifteen eyes of nine patients with increased intraocular pressure and glaucomatous visual field loss but low cup-to-disc ratios are reported. The optic disc area was significantly (P less than 0.01) smaller than in 429 normal subjects and 556 glaucoma patients with high cup-to-disc ratios. Parapapillary chorioretinal atrophy was significantly larger and retinal nerve fiber bundles were significantly less visible than in the normal group. The latter two parameters were not significantly different in the glaucoma groups with low and high cup-to-disc ratios when the groups were matched for mean perimetric loss. The authors conclude that in eyes with small optic discs, glaucomatous optic nerve damage may be indicated more sensitively by parapapillary changes than by cup-to-disc ratios. Glaucomatous eyes with small optic nerve heads can have misleadingly low cup-to-disc ratios.

Adolescent↗
PubMed1998

[A case of hereditary motor and sensory neuropathy with pyramidal tract sign, optic nerve atrophy and mental retardation].

The patient was a 61-year-old man who suffered from gait disturbance since childhood. He also had mental retardation. Gait disturbance was slowly progressive. His mother, sister, brother and son of his sister suffered from gait disturbance. On neurological examination, he showed mental retardation, optic nerve atrophy and neural deafness. He also showed severe muscle atrophy and weakness of bilateral lower limbs associated with pes cavus. Muscle tonus of lower limbs and patellar tendon reflex were increased bilaterally. Achilles tendon reflex was absent. Babinski and Chaddock signs were positive. Superficial and deep sensations were almost normal. There were no cerebellar signs. Blood chemistry was normal. On nerve conduction studies, motor nerve conduction velocity of the upper limbs was normal and that of the posterior tibial nerve was decreased; right 36.0m/sec, left 29.7m/sec. Sensory nerve conduction velocity of the median nerve was slightly decreased; right 36.5m/sec, left 45.2m/sec and sural nerve did not respond to electric stimuli. On sural nerve biopsy, the density of myelinated fibers was severely decreased. Onion bulb formation was not observed. We classified this case as hereditary motor and sensory neuropathy (HMSN) type II based on nerve conduction studies and findings from sural nerve biopsy. HMSN with pyramidal tract sign has been classified as type V and HMSN with optic nerve atrophy as type VI. This case had characteristic symptoms as type V and VI. Histopathological findings of HMSN type V and VI have not been established yet. This case might provide an important clue for classification of HMSN.

Hereditary Sensory and Motor Neuropathy↗
PubMed1999

Ocular changes in mucopolysaccharidosis IV A (Morquio A syndrome) and long-term results of perforating keratoplasty.

BACKGROUND: The mucopolysaccharidoses (MPS) are an inhomogeneous group of disorders of errors in the carbohydrate metabolism with severe ocular involvement (corneal opacification, retinal degeneration, optic atrophy). PATIENT PRESENTATION: We report on a boy aged 12 years, with Morquio A (MPS IV A) syndrome. Ocular findings: progressive pseudoexophthalmus due to shallow orbits, increasing corneal stromal clouding, intermittent dissociated manifest nystagmus of the left eye, nyctalopia. Visual acuity OD cc = 0.16, OS cc = 0.05. Electrophysiology: changes suggesting a symptomatic tapetoretinal degeneration and optic atrophy. TREATMENT AND COURSE OF DISEASE: OS: perforating keratoplasty. Postoperative improvement of visual acuity to 0.25 for nearly a year, followed by progressive reopacification of the corneal graft. Both eyes: progressive signs of tapetoretinal degeneration and optic atrophy. Visual acuity now reduced to OD 0.05, OS 0.1. CONCLUSIONS: Success of a keratoplasty is limited by (1) reopacification of the cornea, (2) visual impairment due to (a) retinal degeneration and (b) optic atrophy. The indication for perforating keratoplasty has to be thought about very carefully in these multimorbid patients. In our patient, beside progressive visual impairment there is a progressive deafness which dominates his social and school life. Attending school is severely complicated by the double handicap. Perforating keratoplasty enabled the boy to attend a school for physically handicapped without a special low-vision care for another year. Progressive visual loss without further treatment options now renders optical and electronic low-vision aids necessary. Although the time of improved visual acuity lasted less than a year, we think patients with a life expectancy of less than 20 years should have every possible improvement of their situation - even if it does not last permanently. We therefore propose perforating keratoplasty in spite of insufficient long-term results.

Child↗
PubMed1991

Difficulty differentiating Leber's from dominant optic neuropathy in a patient with remote visual loss.

A 31-year-old man who inexplicably lost vision as a child was referred for evaluation of bilateral optic atrophy. Other family members had also suffered unexplained visual loss. He had asymmetric impairment of visual acuity, central scotomas, and optic disc pallor. He also had a tritan color vision defect and excavation of the temporal portion of his optic discs, two features that were consistent with autosomal dominant optic atrophy. However, examination of the mitochondrial DNA of the proband and of two of his relatives revealed a mutation at nucleotide 11778, known to be associated with Leber's hereditary optic neuropathy. This case illustrates the difficulty physicians may encounter when trying to clinically differentiate Leber's from dominant optic atrophy in patients with remote visual loss, and it emphasizes the importance of obtaining a molecular assay for a mitochondrial mutation in cases of ambiguously classified hereditary optic neuropathy.

Adult↗
PubMed1982

Progressive visual loss, diabetes mellitus, and associated abnormalities (DIDMOAD syndrome).

A syndrome including juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and high-frequency sensorineural hearing loss, expressed completely or partially, is being identified with greater frequency. Visual loss may be progressive and accompanied by primary optic atrophy. Concurrent diabetic retinopathy has only rarely been reported. Visual acuity may deteriorate to less than 20/400. The etiology is unknown. However, histopathologic studies indicate that the diabetes insipidus, optic atrophy, and neurosensory hearing loss represent progressive degenerative conditions. Inheritance appears to be autosomal recessive with incomplete penetrance. The syndrome is rare; therefore, a complete neuroophthalmologic and neuroradiologic evaluation is imperative to rule out a mass lesion. This syndrome should be considered in young people with visual loss and optic atrophy of unknown etiology even if they are not known juvenile diabetics.

Adolescent↗
PubMed1996

Correlation between peripapillary atrophy and optic nerve damage in normal-tension glaucoma.

PURPOSE: To investigate the correlation between peripapillary atrophy and visual field defects as well as optic nerve head configurations in patients with normal-tension glaucoma (NTG). METHODS: Topographic measurements for peripapillary atrophy and optic nerve head using confocal scanning laser tomography and automated static threshold perimetry were performed on 102 eyes of 51 patients with NTG. Peripapillary atrophy was divided into (1) a central zone (zone Beta) with visible, large choroidal vessels and sclera, and (2) a peripheral zone (zone Alpha) with irregular hyper- and hypopigmentation. The area, angular extent around the disc, and radial extent of each zone were measured. RESULTS: The area and extent of zone Beta increased significantly with increasing visual field defects expressed in terms of mean deviation, corrected pattern standard deviation, central visual field defects within 5 degrees of fixation, and superior hemifield defects (r = 0.3770-0.5291, P < 0.01). The angular extent of zone Beta represented localized field defects better (r = 0.5217, P < 0.001) than diffuse field defects (r = -0.3770, P < 0.01). Zone Beta significantly correlated with optic nerve head topography. Intraindividual right-left-side differences of corrected pattern standard deviation showed the highest correlation with the side differences of zone Beta area (r = 0.6305, P < 0.001). The location of visual field defects correlated significantly with the location of peripapillary atrophy (chi-square = 9.0484, P = 0.011). Zone Alpha was not significantly correlated with visual field defects or optic nerve head configurations (P > 0.05). CONCLUSION: Peripapillary atrophy is significantly associated with functional and structural optic nerve damage in NTG.

Adult↗
PubMed2006

The dynamin-related mouse mitochondrial GTPase OPA1 alters the structure of the mitochondrial inner membrane when exogenously introduced into COS-7 cells.

Mutations in the dynamin family GTPase OPA1 are reportedly the cause of autosomal dominant optic atrophy, the most frequently occurring form of hereditary optic neuropathy. But although the involvement of structural abnormalities of the enzyme in this neurodegenerative disease is clear, little is known about the cell biological and biochemical functions of OPA1. Therefore, to better understand the pathogenesis of autosomal dominant optic atrophy, we precisely analyzed the effects of exogenously introducing mouse OPA1 (mOPA1) on mitochondrial morphology in COS-7 cells. We found that exogenously introducing wild type mOPA1 caused the mitochondria to become fragmented, and moreover caused the intermembrane space to accumulate on one side of the ring-shaped mitochondrial fragments. Immunoelectron microscopic observation of the mOPA1 transfectants confirmed that the structure of the mitochondrial inner membrane had changed dramatically, accumulating on one side of the mitochondrial structures. When cells were transfected with mOPA1 containing a loss of function mutation (K301A) within the G1 GTP-binding domain, mitochondrial fragmentation still occurred. The markers for intermembrane space and matrix showed the similar morphology, which was distinctly different from the finding obtained with wild type mOPA1 transfectants. Notably, we also observed that the effect of two OPA1 missense mutations (E270K and D273A) associated with autosomal dominant optic atrophy elicit effects similar to those seen with the dominant negative K301A mutant.

Animals↗
PubMedDate not supplied

The disc-macula distance to disc diameter ratio: a new test for confirming optic nerve hypoplasia in young children.

The disc-macula: disc diameter (DM:DD) ratio is the ratio of the horizontal distance between the center of the optic disc and the macula to the mean diameter of the optic disc, as evaluated from fundus photographs. The diagnosis of optic nerve hypoplasia may be difficult in cases in which the optic discs are slightly reduced in size, or when the double ring sign is absent and the condition is bilateral. The DM:DD ratio was calculated for six eyes of five children with ophthalmoscopically obvious optic nerve hypoplasia, 12 eyes of six children in whom the diagnosis of optic nerve hypoplasia was equivocal (but established by visual field examination and retinal red free photography), 13 eyes of eight children with optic atrophy, and 25 eyes of 17 children with normal optic discs. The DM:DD ratio was found to be significantly higher for both groups with optic nerve hypoplasia than for those with optic atrophy and the normal controls. For practical purposes, when the DM:DD ratio is greater than 3.0, the diagnosis of optic nerve hypoplasia should be seriously considered.

Adolescent↗
PubMed1977

Specificity of fluorescein angiographic defects of the optic disc in glaucoma.

Fluorescein angiography of the optic disc was performed on normal subjects, patients with nonmyopic open-angle glaucoma dna myopic open-angle glaucoma, normal myopes, patients with optic atrophy due to chiasmal pituitary tumors, and patients with sectorial ischemic optic neuropathy due to vascular hypotension. The normal myopes, those with optic atrophy secondary to pituitary tumor, and the ischemic optic neuropathy group had optic discs similar in appearance to those with open-angle glaucoma. Absolute fluorescein filling defects occurred only in patients with open-angle glaucoma and sectorial ischemic optic neuropathy. The filling defects in open-angle glaucoma appear to be specific, indicating that the blood supply to the anterior portion of the optic nerve is involved, as in ischemic optic neuropathy. Fluorescein angiography of the optic disc may be useful to differentiate open-angle glaucoma from other entities that have similar optic discs.

Adult↗
PubMed2004

Wolfram (DIDMOAD) syndrome: report of two patients.

We report a girl with Wolfram syndrome who presented with juvenile-onset diabetes mellitus when she was 4 3/12 years old. Optic atrophy and high frequency sensorineural hearing loss were found at 7 and 9 5/12 years of age, respectively. Her younger brother also developed Wolfram syndrome when he was 3 2/12 years old. Wolfram syndrome is also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). This syndrome is transmitted as an autosomal recessive trait and is a progressive neurodegenerative disorder. It should be considered in a diabetic patient with unexplained optic atrophy, hearing loss, or polyuria and polydipsia in the presence of adequate blood glucose control. Visual acuity should be checked annually in patients with juvenile-onset diabetes mellitus. Optic atrophy should be considered if visual acuity is impaired.

Adolescent↗
PubMed2003

Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus.

BACKGROUND: Autosomal dominant optic atrophy type 1 (DOA) is the most common form of hereditary optic atrophy in human. We have previously identified the OPA1 gene and shown that it was mutated in patients with DOA. OPA1 is a novel member of the dynamin GTPase family that play a role in the distribution of the mitochondrial network. The Bst (belly spot and tail) mutant mice show atrophy of the optic nerves and previous mapping data raise the possibility that Bst and OPA1 are orthologs. In order to analyse the Bst mouse as a model for DOA, we therefore characterized mouse Opa1 and evaluated it as a candidate for the Bst mutant mouse. RESULTS: Comparison of mouse and human OPA1 sequences revealed 88% and 97% identity at the nucleotide and amino acid levels, respectively. Presence of alternatively spliced mRNAs as seen in human was conserved in the mouse. Screening of the whole mRNA coding sequence and of the 31 exons of Opa1 did not reveal any mutation in Bst. Using a radiation hybrid panel (T31), we mapped Opa1 to chromosome 16 between genetic markers D16Mit3 and D16Mit124, which is 10 cM centromeric to the Bst locus. CONCLUSION: On the basis of these results we conclude that Opa1 and Bst are distinct genes and that the Bst mouse is not the mouse model for DOA.

Animals↗
PubMed1995

Flash visual evoked potential (VEP) in amblyopia and optic nerve disease.

Amblyopia and optic atrophy are two very different causes of unilateral long-standing visual impairment. Yet, in some patients the differential diagnosis is not always manifest and standard clinical tests may fail to provide accurate information. We tested the efficacy of a nonstandard clinical test [flash visual evoked potentials (VEP's)] and quantitative multivariate statistical techniques as aids in the assessment of this differential. Thirty-three patients were separated into four groups (normal, anisometropic amblyopia, strabismic amblyopia, and unilateral optic atrophy). Non-patterned flash VEP's were obtained using several different temporal frequency rates. Patients with optic atrophy had significantly reduced VEP's in the affected eye at all temporal frequencies. Strabismic amblyopes, but not anisometropic amblyopes, often showed supranormal responses in the affected eye at the higher temporal frequencies. Finally, by using discriminant analysis (DA) we were able to classify correctly almost 70% of the patients, well above chance level of 25%. This DA provided very good sensitivity and specificity. We have shown that the use of flash VEP's and of multivariate statistical techniques may provide an effective way to diagnose amblyopia differentially from optic atrophy.

Amblyopia↗
PubMed2006

[Time-multiplexing stereophotography: 2D and 3D qualitative and semiquantitative evaluation of glaucomatous optic disc atrophy].

PURPOSE: Real color documentation of the optic nerve head (ONH) is one of the most important methods in identifying early progression of glaucomatous optic nerve damage. This study qualitatively and semiquantitatively compared the evaluation of ONH photographs, using a 3D time-multiplexing system and conventional 2D photography, visualized on a computer monitor. PATIENTS AND METHODS: Twelve 15 degrees sequential stereophotographs from the Erlangen Glaucoma Registry were scanned by a SprintScan 35 Plus Film scanner (Polaroid, Waltham, MA, USA) and converted by computer software (3D-PIX, NuVision, McNaughton Inc., Beaverton, OR, USA) in jps format (3D). The same ONH images were shown in 2D and 3D to 22 subjects: 12 residents and ten ophthalmologists and evaluated using a standardized questionnaire. RESULTS: We observed a significantly better evaluation with stereoscopic pictures for both qualitative parameters (cup depth, visibility of the retinal nerve fibers, and the thinnest location of the neuroretinal rim) and quantitative parameters (c/d ratio and size of the disc, depending on the training level: in 3D better evaluation by the residents, in 2D by the ophthalmologists). With 2D pictures, we found better evaluation of the B zone and the stage of atrophy. Other than the method used for the entire evaluation, there was no significant difference between the groups. For the parameters weighed for clinical importance, the score of correct answers was significantly better with stereoscopic pictures. CONCLUSION: This study showed a significantly better evaluation of glaucomatous ONH atrophy with 3D images than with 2D pictures, independently of the evaluators' clinical training level. The computer-based evaluation of ONH atrophy using a time-multiplexing system (shutter glasses) may improve the diagnosis of glaucoma patients.

Atrophy↗