pallor/atrofi

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The mechanism of disc pallor in experimental optic atrophy. A fluorescein angiographic study.

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Ascending optic atrophy was produced in 13 eyes of owl monkeys (Aotestrivirgatus) by retinal photocoagulation. Color fundus photography and fluorescein angiography were used to study and document the evolution of nerve head abnormalities. The optic nerve heads were also studied histopathologically.

The histologic basis of optic disk pallor in experimental optic atrophy.

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We studied the clinical and microscopic appearances of the optic nerve head in squirrel monkeys with optic nerve degeneration produced by optic nerve transection at the orbital apex. The ophthalmoscopic development of optic disk pallor coincided with the loss of nerve fiber bundles and the

Optic disk pallor and retinal atrophy in Sotos syndrome (cerebral gigantism).

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OBJECTIVE To report a case of Sotos syndrome (cerebral gigantism) with megalophthalmos, optic disk pallor, and retinal atrophy. METHODS Case report. RESULTS A 22-year-old man was diagnosed with Sotos syndrome with optic atrophy. His corneal diameters were 13 mm horizontally, and his optic disks were

Visual function in patients with optic nerve pallor (optic atrophy).

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This cross-sectional study assessed the relationship between the degree of optic nerve pallor (optic atrophy) and visual function. Using a set of "gold standard" stereoscopic slides, the severity of optic atrophy for 270 eyes, each having sustained a bout of optic neuropathy, was graded. Good visual

[High mean pallor value--a risk factor for deterioration of the visual field in glaucoma and ocular hypertension. A pilot study using the optic nerve head analyzer].

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Does the disc parameter "mean pallor value" suggest a risk for further deterioration of visual field defects? METHODS In 10 patients with ocular hypertension and 23 patients with primary open-angle glaucoma (Octopus 201, Humphrey perimeter) disc pallor was calculated by double examinations with the

[The extent of nasal and temporal papillary pallor of simple optic disk atrophy and the correlation between nasal atrophy and a diminished visual field].

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Dominant optic atrophy in a Japanese family with OPA1 frameshift mutation (V942fsX966).

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OBJECTIVE The authors report the ophthalmic characteristics of a male proband in a Japanese family with autosomal dominant optic atrophy (DOA) harboring a frameshift mutation in the OPA1 gene. METHODS Conventional ophthalmologic examinations including static automated perimetry were performed, as

A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1.

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OBJECTIVE To report a novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1 (OPA1) and to describe the clinical features of this family. METHODS Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice

[Tapeto-retinal degeneration combined with incomplete general albinism (author's transl)].

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Report on a family, which presented the rare autosomal dominant transmitted, incomplete general albinism associated with autosomal recessive inherited, diffuse tapeto-retinal degeneration "sine pigmento". METHODS hypopigmentation of skin, eyebrows and hair, blue iris and fundus albinoticus with

Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis.

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A 12 year-old boy was referred because of general weakness, enuresis and pallor which had been present for at least six months. Previously, the child had been hospitalized at the age of five, because of mental retardation and hepatosplenomegaly, for which no cause could be found. He had severe renal

Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy.

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We aim to reveal the disease-causing mutations in 15 Chinese families with optic atrophy (OA).In total, 15 families with OA were recruited in the present study. Medical histories were carefully reviewed and comprehensive ophthalmic examinations were

Sudden death in calves associated with acute myocardial degeneration and selenium deficiency.

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A syndrome on four dairy farms in which calves up to two months of age died suddenly during a period of excitement usually precipitated by feeding was investigated. The description given by owners was that during, or shortly after milk feeding, the calves grunted, fell and died within one minute.

[Neurological CPC.57. An 80-year-old woman with four years history of muscle atrophy involving lower extremities predominantly on the right side].

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We report an 80-year-old woman with progressive muscular atrophy predominantly involving her right lower extremity. She was well until 1992 (75 years of age) when she noted an onset of weakness in her right leg which had got progressively worse. She was admitted to our service in July 1994. On

Incidental branch retinal artery occlusion on optical coherence tomography angiography presenting as segmental optic atrophy in a child: a case report.

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BACKGROUND Retinal artery occlusion is extremely rare in the pediatric population and most patients have risk factors. We report a case of a healthy child with segmental optic atrophy, complicated by incidental branch retinal artery occlusion (BRAO). METHODS A 10-year-old boy who had a history of

Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy.

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OBJECTIVE Several OPA1 variants cause dominant optic atrophy (DOA), the most common hereditary optic atrophy. Here, we describe a newly discovered OPA1 deletion in 3 patients with DOA. METHODS A female proband, her brother, and her mother underwent complete ophthalmologic examinations that included

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