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

Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians.

Italian journal of pediatrics - 21 Dec 2019

Suppiej Agnese, Marino Silvia, Reffo Maria Eleonora, Maritan Veronica, Vitaliti Giovanna, Mailo Janette, Falsaperla Raffaele

Abstract excerpt

INTRODUCTION: Inherited retinal dystrophies are major cause of severe progressive vision loss in children. Early recognition and diagnosis are essential for timely visual rehabilitation during the appropriate stages of the visual development, as well as for genetic diagnosis and possible gene therapy. The aim of this study is to characterize a pattern of the initial visual symptoms, which could help the...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Blindness

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

Share to Databases, Factual

Share to Diagnosis, Differential

Share to Electroretinography

Share to Nystagmus, Congenital

Share to Retinal Dystrophies

Share to Sex Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 31864384
DOI: 10.1186/s13052-019-0760-5
PMCID: PMC6925422

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

Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians.PMID 31864384Read ↗

Exome sequencing and electro-clinical features in pediatric patients with very early-onset retinal dystrophies: A cohort study.Semantic proximity Read ↗

Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease.Semantic proximity Read ↗

A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.Semantic proximity Read ↗

“Characteristics and Predictors of Pediatric and Adult Patients with Inherited Retinal Degenerations at Time of Presentation: Tertiary Care Ophthalmology Clinic Data”Semantic proximity Read ↗

[Inherited retinal or optic nerve disorders – five steps to diagnosis].Semantic proximity Read ↗

Pediatric Cone-Rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations.Semantic proximity Read ↗

Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology.Semantic proximity Read ↗

Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy.Semantic proximity Read ↗

The cone dysfunction syndromes.Semantic proximity Read ↗

Achromatopsia: on the doorstep of a possible therapy.Semantic proximity Read ↗

Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.Semantic proximity Read ↗

An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up.Semantic proximity Read ↗

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