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

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.

JAMA ophthalmology - 1 Feb 2013

McAnany J Jason, Genead Mohamed A, Walia Saloni, Drack Arlene V, Stone Edwin M, Koenekoop Robert K, Traboulsi Elias I, Smith Alison, Weleber Richard G, Jacobson Samuel G, Fishman Gerald A

Abstract excerpt

OBJECTIVE: To evaluate changes in visual acuity (VA) over time in patients with Leber congenital amaurosis (LCA) and mutations in the CEP290 gene. METHODS: Visual acuity was determined at the initial and most recent visits of 43 patients with LCA and CEP290 mutations. The main outcome measures included the best-corrected VA at the initial and most recent visits, as well as the correlation between age and VA....

Read the complete abstract on PubMed

Topics

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

Share to Antigens, Neoplasm
Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Follow-Up Studies

Share to Infant

Share to Leber Congenital Amaurosis

Share to Neoplasm Proteins

Share to Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 23411883
DOI: 10.1001/2013.jamaophthalmol.354
PMCID: PMC3688627

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.PMID 23411883Read ↗

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.Semantic proximity Read ↗

Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series.Semantic proximity Read ↗

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

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.Semantic proximity Read ↗

CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.Semantic proximity Read ↗

Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.Semantic proximity Read ↗

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.Semantic proximity Read ↗

Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.Semantic proximity Read ↗

Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations.Semantic proximity Read ↗

Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.Semantic proximity Read ↗

Leber Congenital Amaurosis.Semantic proximity Read ↗

Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function.Semantic proximity Read ↗

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