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

Phenotypes and genotypes underlying paradoxical pupillary reaction in children.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Aug 2022

Khan Arif O

Abstract excerpt

Paradoxical pupillary reaction (initial pupillary constriction to darkness) has been most associated with the inherited retinal disorders congenital stationary night blindness and achromatopsia. However, underlying genotypes and associations with other pediatric retinal phenotypes are not well documented. A retrospective review for paradoxical pupillary reaction was performed at the Ocular Genetics Clinic of...

Read the complete abstract on PubMed

Topics

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

Share to Calcium-Binding Proteins
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Diseases, Hereditary

Share to Genetic Diseases, X-Linked

Share to Genotype

Share to Myopia

Share to Night Blindness

Share to TRPM Cation Channels

Source

Identifiers

PMID: 35659618
DOI: 10.1016/j.jaapos.2022.04.005

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

Phenotypes and genotypes underlying paradoxical pupillary reaction in children.PMID 35659618Read ↗

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.Semantic proximity Read ↗

Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.Semantic proximity Read ↗

Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.Semantic proximity Read ↗

Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.Semantic proximity Read ↗

Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.Semantic proximity Read ↗

Congenital Stationary Night Blindness: Clinical and Genetic Features.Semantic proximity Read ↗

Congenital stationary night blindness: mutation update and clinical variability.Semantic proximity Read ↗

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness.Semantic proximity Read ↗

Clinical and genetic findings in TRPM1-related congenital stationary night blindness.Semantic proximity Read ↗

Genetic and Clinical Heterogeneity of Polish Patients with Congenital Stationary Night Blindness (CSNB).Semantic proximity Read ↗

Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.Semantic proximity Read ↗

Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.Semantic proximity Read ↗

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