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 433 records · Page 24Linked to original sources
PubMed1988

Congenital optic atrophy and brachytelephalangy: the Berk-Tabatznik syndrome.

Here we report on a prepubertal boy with the Berk-Tabatznik syndrome. Manifestations included short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges. Prognosis was adversely affected by visual and auditory difficulties. The cause of this condition remains unknown.

Deafness↗
PubMed2005

[Primary orbital mucocele: exophthalmos and optic atrophy].

OBJECTIVE: Primary intraorbital mucoceles arising from the optic canal are extremely rare. We describe a patient with compressive optic neuropathy caused by an intraorbital mucocele. CLINICAL CASE: A 51-year-old woman presented with proptosis and reduced vision. Magnetic resonance imaging showed a mass compressing the optic nerve. There was no direct connection between any paranasal sinus and the mass cavity, as assessed in imaging studies and intraoperatively confirmed. The pathological diagnosis after the operation indicated a mucocele. DISCUSSION: Considering the absence of air pockets in the orbit, the mucocele might have originated from ectopic mucinous tissue that appeared during the development of the optic canal.

Diagnosis, Differential↗
PubMed1998

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy. Linkage to markers on chromosome 4p was confirmed in five families. On the basis of meiotic recombinants and disease-associated haplotypes, the WFS gene was localized to a BAC/P1 contig of less than 250 kb. Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were found in all affected individuals in six WFS families, and these mutations were associated with the disease phenotype. WFS1 appears to function in survival of islet beta-cells and neurons.

Adult↗
PubMed1992

Optic atrophy, sensorineural hearing loss and polyneuropathy--a case of sporadic Rosenberg-Chutorian syndrome.

We report on a 41-year-old woman with slowly progressive motor dominant polyneuropathy, optic atrophy and sensorineural deafness, but without any known familial feature. These neurological manifestations were in accordance with the syndrome reported by Rosenberg and Chutorian in 1967 (Rosenberg-Chutorian syndrome), a unique form of Charcot-Marie-Tooth disease. The syndrome was first reported to be autosomal dominant in trait, but subsequently recessive forms and sporadic ones have also been described. Nerve biopsy and neurophysiological studies including electromyography, nerve conduction velocities, somatosensory evoked potentials, auditory brainstem responses, and visual evoked potentials revealed the axonopathic involvement of the central nervous system as well as the peripheral nervous system. Since neurophysiological aspects of this particular syndrome have not been well studied, these results would provide some insight into the understanding of this disorder.

Adult↗