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

Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations.

American journal of ophthalmology - 1 May 2017

Jacobson Samuel G, Cideciyan Artur V, Sumaroka Alexander, Roman Alejandro J, Charng Jason, Lu Monica, Choudhury Shreyasi, Schwartz Sharon B, Heon Elise, Fishman Gerald A, Boye Shannon E

Abstract excerpt

PURPOSE: To determine outcome measures for a clinical trial of Leber congenital amaurosis (LCA) associated with mutations in the GUCY2D gene. DESIGN: Retrospective observational case series. METHODS: Twenty-eight patients with GUCY2D-LCA (aged 2-59 years) were studied clinically and with chromatic full-field sensitivity testing (FST), optical coherence tomography (OCT), pupillometry, and the NEI Visual Function...

Read the complete abstract on PubMed

Topics

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

Share to Clinical Trials as Topic
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Guanylate Cyclase

Share to Leber Congenital Amaurosis

Share to Rod Cell Outer Segment

Share to Surveys and Questionnaires

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Identifiers

PMID: 28212877
DOI: 10.1016/j.ajo.2017.02.003

Genes

FST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations.PMID 28212877Read ↗

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.Semantic proximity Read ↗

Leber congenital amaurosis caused by mutations in GUCY2D.Semantic proximity Read ↗

Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.Semantic proximity Read ↗

A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1).Semantic proximity Read ↗

Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.Semantic proximity Read ↗

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutantsSemantic proximity Read ↗

Mutational analysis and clinical correlation in Leber congenital amaurosis.Semantic proximity Read ↗

Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene.Semantic proximity Read ↗

Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.Semantic proximity Read ↗

Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutationsSemantic proximity Read ↗

Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.Semantic proximity Read ↗

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.Semantic proximity Read ↗

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