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

Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene.

Ophthalmic genetics - 1 Dec 2020

Ortiz-Ramirez Grecia Yael, Villanueva-Mendoza Cristina, Zenteno Ruiz Juan Carlos, Reyes Mariana, Cortés-González Vianney

Abstract excerpt

BACKGROUND: Choroideremia is an X-linked chorioretinal dystrophy caused by mutations in the CHM gene. The main differential diagnosis is X-linked retinitis pigmentosa. Clinically, male patients that are affected by these two diseases have similar symptoms. This work aims to report a familial case of choroideremia initially diagnosed as X-linked retinitis pigmentosa with a novel mutation in the CHM gene, and the...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Choroideremia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescein Angiography

Share to Genetic Predisposition to Disease

Share to Heterozygote

Share to Mutation

Share to Visual Fields

Source

Identifiers

PMID: 32835561
DOI: 10.1080/13816810.2020.1810283

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene.PMID 32835561Read ↗

Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.Semantic proximity Read ↗

Female carriers of X-linked inherited retinal diseases - Genetics, diagnosis, and potential therapies.Semantic proximity Read ↗

Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.Semantic proximity Read ↗

CHOROIDEREMIASemantic proximity Read ↗

Clinical diagnoses that overlap with choroideremia.Semantic proximity Read ↗

Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.Semantic proximity Read ↗

Comparative Analysis of Retinal Structure and Function in Female Carriers of Choroideremia and X-Linked Retinitis Pigmentosa.Semantic proximity Read ↗

Clinical findings in a carrier of a new mutation in the choroideremia gene.Semantic proximity Read ↗

Retinal Characteristics of Female Choroideremia Carriers: Multimodal Imaging, Microperimetry, and Genetics.Semantic proximity Read ↗

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.Semantic proximity Read ↗

Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation.Semantic proximity Read ↗

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.Semantic proximity Read ↗

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