Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Gyrate Atrophy-Like Phenotype: Normal Plasma Ornithine and Retinal Crystals.

Optometry and vision science : official publication of the American Academy of Optometry - 1 Sept 2016

Bhakhri Raman, Ridder William H

Abstract excerpt

PURPOSE: To report an unusual case of a gyrate atrophy-like presentation with retinal crystal deposition in a patient with normal plasma ornithine levels. CASE REPORT: A 50-year-old Hispanic female patient presented with complaints of blurred vision and nyctalopia. Examination revealed bilateral multiple round islands of peripheral chorioretinal degeneration in addition to small crystal-like deposits in the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biomarkers
Share to Color Vision
Share to Ornithine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Retina

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 27309525
DOI: 10.1097/OPX.0000000000000906

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gyrate Atrophy-Like Phenotype: Normal Plasma Ornithine and Retinal Crystals.PMID 27309525Read ↗

Gyrate atrophy-like phenotype with normal plasma ornithine.Semantic proximity Read ↗

Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype.Semantic proximity Read ↗

Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants.Semantic proximity Read ↗

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophySemantic proximity Read ↗

Gyrate atrophy of the choroid and retina diagnosed by ornithine-δ-aminotransferase gene analysis: a case report.Semantic proximity Read ↗

Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.Semantic proximity Read ↗

Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation.Semantic proximity Read ↗

Multimodal imaging and genetic screening in Mexican patients with Gyrate Atrophy. Identification of novel OAT pathogenic variants.Semantic proximity Read ↗

A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female.Semantic proximity Read ↗

Retinal structure, function, and molecular pathologic features in gyrate atrophy.Semantic proximity Read ↗

First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia.Semantic proximity Read ↗

Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.