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

Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.

Documenta ophthalmologica. Advances in ophthalmology - 1 Apr 2018

Sengillo Jesse D, Lee Winston, Bilancia Colleen G, Jobanputra Vaidehi, Tsang Stephen H

Abstract excerpt

PURPOSE: To report an unusual phenotype of retinitis pigmentosa (RP) caused by compound heterozygous mutations in SPATA7, and describe the progression over a two year follow-up period. METHODS: Retrospective case study. RESULTS: A 63-year-old man with a long history of nyctalopia, progressive visual field constriction, and a recent subacute decrease in visual acuity of the left eye presented for evaluation of a...

Read the complete abstract on PubMed

Topics

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

Share to Choroid
Share to Atrophy
Share to Fluorescein Angiography

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Retinal Pigment Epithelium

Share to Sclerosis

Share to Tomography, Optical Coherence

Share to Visual Acuity

Share to Visual Fields

Source

Open in PubMed Open full text

Identifiers

PMID: 29411205
DOI: 10.1007/s10633-018-9626-1
PMCID: PMC6015729

Genes

SPATA7
RPE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.PMID 29411205Read ↗

SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.Semantic proximity Read ↗

Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.Semantic proximity Read ↗

RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.Semantic proximity Read ↗

SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland.Semantic proximity Read ↗

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis PigmentosaSemantic proximity Read ↗

Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65.Semantic proximity Read ↗

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.Semantic proximity Read ↗

Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.Semantic proximity Read ↗

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.Semantic proximity Read ↗

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.Semantic proximity Read ↗

SLC7A14 linked to autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaSemantic proximity Read ↗

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