In order to investigate causative mechanisms of optic neuropathy, retrospective clinical studies including ophthalmologic examination, imaging study, and molecular biologic analyses were performed on 322 patients with optic neuropathy. The causes include hereditary optic neuropathy(71 patients, 22.1%), optic neuritis(66 patients, 20.5%), traumatic optic neuropathy(40 patients, 12.5%), ischemic optic neuropathy(35 patients, 10.9%), compressive optic neuropathy(31 patients, 9.6%), toxic optic neuropathy(23 patients, 7.1%), etc. In 29 patients of bilateral optic atrophy and 18 patients of unilateral optic atrophy, the causative mechanism was not clear. In conclusion, hereditary optic neuropathy was the most common causative mechanism of optic neuropathy in this study. The importance of meticulous history taking and molecular biologic test should be stressed in differential diagnosis of optic neuropathy.
Diagnosis, Differential ; Humans ; Optic Atrophy ; Optic Nerve Diseases* ; Optic Nerve Injuries ; Optic Neuritis ; Retrospective Studies

In order to investigate causative mechanisms of optic neuropathy, retrospective clinical studies including ophthalmologic examination, imaging study, and molecular biologic analyses were performed on 322 patients with optic neuropathy. The causes include hereditary optic neuropathy(71 patients, 22.1%), optic neuritis(66 patients, 20.5%), traumatic optic neuropathy(40 patients, 12.5%), ischemic optic neuropathy(35 patients, 10.9%), compressive optic neuropathy(31 patients, 9.6%), toxic optic neuropathy(23 patients, 7.1%), etc. In 29 patients of bilateral optic atrophy and 18 patients of unilateral optic atrophy, the causative mechanism was not clear. In conclusion, hereditary optic neuropathy was the most common causative mechanism of optic neuropathy in this study. The importance of meticulous history taking and molecular biologic test should be stressed in differential diagnosis of optic neuropathy.
Diagnosis, Differential ; Humans ; Optic Atrophy ; Optic Nerve Diseases* ; Optic Nerve Injuries ; Optic Neuritis ; Retrospective Studies

We performed full field pattern reversal VEP using UTAS-E 2000, in 87 eyes of the 70 patients with amblyopia(14 eyes) and optic nerve diseases; optic neuritis(21 eyes), optic nerve atrophy(23 eyes), toxic optic neuropathy(15 eyes) and optic nerve injury(14 eyes) from December 1993 to July 1994. This study was carried out to evaluate the relationship of the visual acuity with P1 amplitude, P1 latency, and to compare the latency of P1, and P1-N2 amplitude to each disease group and the normal groups. There was no correlation between the visual acuity and P1 latency, but significant correlation between the visual acuity and P1 amplitude(p<0.01). In the P1 implicit time, optic neuritis, optic nerve atrophy and toxic optic neuropathy patients presented marked delay and amblyopia patients presented moderate delay, but there was no other significant difference in each disease group. Over 50% of each disease group except amblyopia presented P1 destruction. Therefore, the authers concluded that P1 amplitude might not be good parameter in diagnosis of the optic nerve disease because of its variability to the visual acuity, but P1 latency and P1 destruction could be good parameter.
Amblyopia* ; Atrophy ; Diagnosis ; Humans ; Optic Nerve Diseases* ; Optic Nerve Injuries ; Optic Nerve* ; Optic Neuritis ; Visual Acuity

Leber's hereditary optic neuropathy is caused by a single nucleotide change in the mitochondrial deoxynucleic acid(mtDNA). We identified a single guanine to adenine transition mutation in the mitochondrial DNA at nucleotide position 11778(Wallace mutation)in a 13 year old boy. To our knowldge, this is the first report confirming mtDNA mutation in Korea. This would be very helpful for the correct diagnosis of optic neuritis, optic neuropathy and optic atrophy of unknown etiology as well as for genetic counselling in the future.
Adenine ; Adolescent ; Diagnosis ; DNA, Mitochondrial ; Guanine ; Humans ; Korea ; Male ; Optic Atrophy ; Optic Atrophy, Hereditary, Leber* ; Optic Nerve Diseases ; Optic Neuritis

Leber's Hereditary Optic Neuropathy(LHON) is a maternally inherited disorders that occurs primarily in young males and is characterized by subacute, sequential, bilateral central visual loss, ultimately, optic atrophy. We report 2 cases of molecularly confirmed LHON which reveal 11778 and 14484 mitochondral DNA mutation, respectively but there is no family history of visual loss. So the diagnosis of LHON deserves to be considered in all crypotogenic cases of acute or subacute optic or chiasmal neuropathy. Late or early age at onset, female gender, and a negative family history should not be dissuasive.
Diagnosis ; DNA ; Female ; Humans ; Male ; Molecular Biology* ; Optic Atrophy ; Optic Nerve Diseases*

Lebers hereditary optic neuropathy(LHON)is caused by a single nucleotide change in the mitochondrial deoxynucleic acid(mtDNA)and accounts for 30% of bilateral optic atrophy of unknown etiology. In order to define the clinical features of LHON associated with the 11778 mtDNA mutation, clinical and historical data were collected from 60 visually symptomatic patients with the molecularly confirmed mtDNA 11778 mutation. Forty-nine(82%)of the 60 patients were male. Onset of visual loss was between 6 and 63 years of age. Worst visual acuity ranged from light perception to 0.8. In most patients, visual acuities deteriorated to worse than 0.1 and remained at that level. Final visual acuities ranged from light perception to 1.2.Five(8.3%)out of 60 patients showed improvement of visual acuity up to 0.5 or better in at least one eye. Ishihara test revealed severe color vision impairment in most patients. Optic atrophy was the most common ophthalmoscopic finding.However, increased C/D ratio or normal disc was also observed. Central scotoma was the most frequent visual field defect, but normal visual field was also found. LHON should be considered in the differential diagnosis of optic neuropathy in a young man with visual and color deterioration as well as with a central scotoma. However, various phenotypes also exist in an atypical LHON case.
Color Vision ; Diagnosis, Differential ; DNA, Mitochondrial* ; Humans ; Male ; Optic Atrophy ; Optic Nerve Diseases* ; Phenotype ; Scotoma ; Visual Acuity ; Visual Fields

VEPs weie recorded in 222 cases of different disease groups and in 42cases of the control group using a Nicolet CA 1000 system. The latency time of N1, P1, N2, and P2 from the prominent surface peak and the P1-N2 amplitude at full field pattern reversal VEP. The score of each disease group was compared with those of the control group. The results are as follows; 1. Functional amblyopia, optic neuritis, and optic nerve atrophy patients presented a significant derrease in amplitude in comparison to normal subiects. 2. In the P1 implicit time, optic neuritis, and optic nerve atrophy patients presented a marked delay. Functional amblyopia patients presented a moderate delay while other disease group patients presented normal to mild delays. 3. More than half of the optic neuritis and optic nerve atrophy patients presented a detraction of the P1 wave form.
Adolescent ; Adult ; Amblyopia/*diagnosis ; Brain Diseases/*diagnosis ; Child ; Diagnosis, Differential ; *Evoked Potentials, Visual ; Humans ; Middle Aged ; Optic Atrophy/*diagnosis ; Optic Neuritis/*diagnosis ; Time Factors

Autosomal dominant cerebellar ataxia(ADCA) is an unusual, familial hereditary disorder that ha been called olivopontocerebellar atrophy. ADCA type II is usually accompanied with severely decreased visual acuity and cerebellar ataxia. We experienced a 39 year-old female with ADCA type II who had the severely decreased visual acuity and progressive familial cerebellar ataxia. The diagnosis for ADCA type II was made through several ophthalmic examinations. brain magnetic resonance imaging, and chromosomal study. When ophthalmologists encounter a patient with decreased visual acuity and cerebellar ataxia, this disorder should not be overlooked. We report this unusual case with literature review.
Adult ; Brain ; Cerebellar Ataxia* ; Diagnosis ; Female ; Humans ; Magnetic Resonance Imaging ; Olivopontocerebellar Atrophies ; Optic Atrophy* ; Visual Acuity

This study was performed to determine whether peripapillary atrophy can be helpful in diagnosis of glaucoma and to investigate the correlation between peripapillary atrophy and optic disc head configuration in patients with primary open-angle glaucoma and normal-tension glaucoma. For all eyes, color polaroid optic disc photographs had been taken with Topcon retinal camera and reviewed. 93 eyes of normal subjects, 47 eyes of 47 patients with primary open-angle glaucoma and 47 eyes of 47 patients with normal-tension glaucoma were analyzed. Zone beta was detected more often in patients with normal-tension glaucoma and primary open-angle glaucoma (P<0.05). There was no significant difference in frequency of peripapillary atrophy between in patients with normal-tension glaucoma and primary open-angle glaucoma (P=0.071). In primary open-angle glaucoma,total,nasal and temporal neuroretinal rim area and total, inferior, nasal and temporal neuroretinal rim area/disc area ratio were smaller in patients with zone beta than without zone beta (P<0.05). The presence of zone beta was associated with neural tissue loss and progression of visual field in primary open-angle glaucoma (P<0.05). In conclusion,peripapillary atrophy, especially zone beta, is associated with glaucoma. Therefore, evaluation of peripapillary atrophy can be help-ful in diagnosing glaucoma. The presence of zone beta is associated with functional and structural optic nerve damage and is of predictive value in the future glaucomatous damage in primary open-angle glaucoma.
Atrophy* ; Diagnosis* ; Glaucoma ; Glaucoma, Open-Angle* ; Head ; Humans ; Optic Nerve ; Retinaldehyde ; Visual Fields

A 32-year-old man with blurred vision in the right eye and headache presented with anterior uveitis, an intraocular pressure (IOP) of 60 mmHg, an open angle, no visual field defects, and normal optic nerve. He had a history of five previous similar attacks. In each of the previous instances, his anterior uveitis and high IOP were controlled with antiglaucoma medications and topical steroids. However, at the fifth attack, his optic disc was pale and a superior paracentral visual field defect was shown. Brain magnetic resonance image studies were normal. This case represents that a recurrent Posner-Schlossman syndrome (PSS)-induced optic disc atrophy likely due to ocular ischemia caused by a recurrent, high IOP. Although PSS is a self-limiting syndrome, we should manage high IOP and prevent ischemia of the optic nerve head by treating with ocular antihypertensive medications.
Atrophy/diagnosis/etiology ; Diagnosis, Differential ; Glaucoma, Open-Angle/*complications/diagnosis/physiopathology ; Humans ; *Intraocular Pressure ; Male ; Optic Disk/*pathology ; Optic Nerve Diseases/diagnosis/*etiology/physiopathology ; Syndrome ; Young Adult