No abstract available.
Humans ; Male ; Methanol/*poisoning ; Optic Atrophy/*chemically induced ; Optic Disk/*pathology ; Papilledema/*chemically induced

Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, deafness, skeletal and neurologic abnormalities. We describe here an 18 year old boy with Cockayne syndrome who had, in addition to the typical features of the disorder, fasting hyperinsulinemia and growth hormone deficiency.
Adolescent ; C-Peptide/blood ; Cockayne Syndrome/*complications/pathology ; Growth Disorders/*complications/pathology ; Growth Hormone/*deficiency ; Humans ; Hyperinsulinism/*complications/pathology ; Insulin/blood ; Male ; Optic Atrophy/pathology ; Retinal Degeneration/pathology

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

PURPOSE: To characterize the features of peripapillary atrophy (PPA), as imaged by spectral-domain optical coherence tomography (SD-OCT). METHODS: SD-OCT imaging of the optic disc was performed on healthy eyes, eyes suspected of having glaucoma, and eyes diagnosed with glaucoma. From the peripheral beta-zone, the retinal nerve fiber layer (RNFL), the junction of the inner and outer segments (IS/OS) of the photoreceptor layer, and the Bruch's membrane/retinal pigment epithelium complex layer (BRL) were visualized. RESULTS: Nineteen consecutive eyes of 10 subjects were imaged. The RNFL was observed in the PPA beta-zone of all eyes, and no eye showed an IS/OS complex in the beta-zone. The BRL was absent in the beta-zone of two eyes. The BRL was incomplete or showed posterior bowing in the beta-zone of five eyes. CONCLUSIONS: The common findings in the PPA beta-zone were that the RNFL was present, but the photoreceptor layer was absent. Presence of the BRL was variable in the beta-zone areas.
Adult ; Aged ; Bruch Membrane/pathology ; Female ; Glaucoma/*complications ; Humans ; Male ; Middle Aged ; Nerve Fibers/pathology ; Optic Atrophy/*diagnosis/*etiology ; Optic Disk/*pathology ; Photoreceptor Cells, Vertebrate/pathology ; Retina/pathology ; Retinal Pigment Epithelium/pathology ; Tomography, Optical Coherence/*methods

We experiened a case of electrical retinopathy, following industrial electrocution. The patient complained of acute visual loss due to corneal edema, anterior chamber reaction, lens opacities, vitrons reaction, retinopathy and secondary glaucoma. The visual acuity was improved during hospital day and short term after discharge period, but worsened,eventually by progressive anterior chamber and posterior segment pathologies, that is lens opacities and optic atrophy etc, We Performed several ocular examinations, including visual field, fundus phetography and fluorescein angiography during admission and follow-up pericd. A brief review of the literature is described.
Anterior Chamber ; Cataract ; Corneal Edema ; Fluorescein Angiography ; Follow-Up Studies ; Glaucoma ; Humans ; Optic Atrophy* ; Pathology ; Visual Acuity ; Visual Fields

Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder leading to rapid, painless, bilateral and usually permanent central vision loss in young adults, males are preferentially affected. The maternal transmission of this visual dysfunction in LHON families suggested that mutations in the mitochondrial DNA (mtDNA) are the molecular bases of the disorder. The ND1 G3460A, ND4 G11778A and ND6 T14484C mutations in the genes encoding the subunits of respiratory chain complex I, account for more than 50% of LHON families worldwide. These three mutations are designated to be primary mutations because they impart a high risk for LHON expression. However, matrilineal relatives within and among families, despite carrying the same LHON-associated mtDNA mutation(s), exhibit a wide range of onset, severity, and the progression of visual impairment. These findings strongly indicated that the LHON-associated primary mutation(s) are the primary factors underlying the development of vision loss, but they themselves are insufficient to produce a clinic phenotype. The prone to male, incomplete penetrance, and phenotypic variability of vision loss suggest that other modifier factors including personal factors, environmental factors, nuclear modifier genes and mitochondrial haplotypes contribute to the phenotypic expression of these mtDNA mutations. In particular, the mitochondrial haplotypes may play a synergic role in the development of vision loss in the families carrying the LHON-associated primary mtDNA mutation(s).
DNA, Mitochondrial ; genetics ; Genome, Human ; genetics ; Genomics ; Haplotypes ; Humans ; Mitochondria ; genetics ; Optic Atrophy, Hereditary, Leber ; genetics ; pathology

INTRODUCTIONThis study describes the pathologic changes in the retina of a group of young Asian subjects with myopia worse than -10 diopters spherical equivalent (SE) refraction.

MATERIALS AND METHODSThe study population consists of 20 male subjects undergoing preemployment screening for public service for a 1-year period from 2009 to 2010. A detailed series of visual tests of function, fundus examination and grading, ocular biometry and posterior segment optical coherence tomography were performed for all eyes.

RESULTSA total of 21 eyes with mean SE of -10.88 diopters, [standard deviation (SD) , 1.28 diopters], and mean age of 21.8 years (SD, 1.3 years) were included. Out of 21 eyes, 17 (81.0%) had beta peripapillary atrophy, 10 (47.6%) had clinically detectable optic disc tilt, 1 (4.8%) had positive T-sign and 18 (85.7%) had retinal tessellation, 4 (19.0%) had posterior vitreous detachment and 14 (66.7%) had peripheral retina degeneration. The mean retinal nerve fibre layer (RNFL) thickness was 92.48 mm (SD, 9.99 mm).

CONCLUSIONNone of the 21 highly myopic eyes had features of myopic retinopathy but most of these young males had clinically visible myopia-associated abnormalities of the optic disc, vitreous and peripheral retina. Generally, these eyes had thinner RNFL. Further longitudinal studies are required to investigate if these eyes will eventually develop complications of pathological myopia.

Adolescent ; Adult ; Age of Onset ; Choroid Diseases ; diagnosis ; Fluorescein Angiography ; Humans ; Male ; Myopia ; classification ; pathology ; Nerve Fibers ; pathology ; Ophthalmoscopy ; Optic Atrophy ; diagnosis ; Optic Disk ; pathology ; Optic Nerve Diseases ; diagnosis ; Posterior Eye Segment ; pathology ; Retina ; pathology ; Retinal Degeneration ; diagnosis ; Retinal Diseases ; diagnosis ; Retinal Vessels ; pathology ; Singapore ; Tomography, Optical Coherence ; methods ; Vision Tests ; Visual Acuity ; Vitreous Detachment ; diagnosis ; Young Adult

Osteoma is a slowly growing benign tumor which mainly grows on the mandible and in the paranasal sinuses of the craniofacial region. Embryological, inflammatory, and traumatic theories make up the etiological basis of osteoma, but is still unclear and yet to be studied. We can classify osteoma by morphology and pathology into eburnated, cancellous, and mixed type, of which eburnated type is relatively common. Most osteomas accompany no symptoms, so they are often discovered accidentally by a radiological examination. They never develop into a malignant form, so that periodic observation is sufficient enough for management, but when they grow and invade intraorbitally or intracranially and then compress clinically important structures, need a surgical management, because of possibility of diplopia, exophthalmos, epiphora, blindness due to optic atrophy, mucocele, brain abscess, meningitis. A 52-year-old man complaining of right eye pain, diplopia, and exophthalmos was diagnosed a 4.5x3.0x 2.0cm sized fronto-ethmoidal osteoma by means of a three dimensional computed tomography. We experienced a osteoma removal through bicoronal incision, and orbital reconstruction with both rib and calvarial bone graft, and received satisfying results after 1 year follow-up, thereby report this case with a short review of references.
Blindness ; Brain Abscess ; Diplopia ; Exophthalmos ; Eye Pain ; Follow-Up Studies ; Humans ; Lacrimal Apparatus Diseases ; Mandible ; Meningitis ; Middle Aged ; Mucocele ; Optic Atrophy ; Orbit ; Osteoma* ; Paranasal Sinuses ; Pathology ; Ribs* ; Transplants*

OBJECTIVETo analyze a pedigree of Leber's hereditary optic neuropathy, and its penetrance, anticipation, and spontaneous eyesight improvement, and its relationship with mitochondrial DNA mutation.

METHODSEighteen members in the family were undergone routine visual check. Five cases were taken visual evoked potential and visual field examination. DNA sequencing was performed on 6 cases to check the mtDNA 11778, 3460 and 14484 loci.

RESULTS(1)The offsprings from the first wife in the first generation showed decreased acuity of the two eyes, which was optic atrophy identified by funduscopy. (2) The mtDNA had mutation at position 14484, but not at positions 11778 and 3460.

CONCLUSIONThe pedigree showed a typical maternal inheritance of Leber's hereditary optic neuropathy. It was caused by mtDNA 14484 mutation.

Adolescent ; Adult ; Base Sequence ; Child ; DNA Mutational Analysis ; DNA, Mitochondrial ; genetics ; Female ; Humans ; Male ; Mutation ; Optic Atrophy, Hereditary, Leber ; genetics ; pathology ; physiopathology ; Pedigree ; Phenotype

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.
Adolescent ; Adult ; Child ; Child, Preschool ; Colorimetry/methods/standards ; Diagnosis, Computer-Assisted/*methods/standards ; Female ; Humans ; Male ; Middle Aged ; Optic Atrophy/etiology/*pathology ; Optic Nerve Diseases/etiology/*pathology ; Optic Nerve Injuries/*pathology ; Photography/*methods/standards ; Reproducibility of Results ; Software ; Tomography, Optical Coherence/*methods/standards ; Trauma Severity Indices ; Young Adult