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

Persistent Bilateral Optic Disc Swelling in Non-Syndromic Retinitis Pigmentosa: A Case Report.

The American journal of case reports - 14 Apr 2026

Alenazi Maram, Magliyah Moustafa S, Alsakran Wael A

Abstract excerpt

BACKGROUND In retinitis pigmentosa (RP), the optic nerve head typically exhibits a pale, waxy appearance and may demonstrates pseudo-swelling due to optic nerve drusen. However, true optic disc edema is rare and remains poorly understood. We present a case with unusual findings of bilateral disc swelling in non-syndromic RP caused by TULP1 mutation. CASE REPORT An 8-year-old boy initially presented to the...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Electroretinography
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescein Angiography

Share to Mutation

Share to Retinitis Pigmentosa

Share to Tomography, Optical Coherence

Source

Open in PubMed Open full text

Identifiers

PMID: 41980014
DOI: 10.12659/AJCR.951708
PMCID: PMC13094384

Genes

TULP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Persistent Bilateral Optic Disc Swelling in Non-Syndromic Retinitis Pigmentosa: A Case Report.PMID 41980014Read ↗

TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases.Semantic proximity Read ↗

A novel homozygous missense mutation p.P388S in <i>TULP1</i> causes protein instability and retinitis pigmentosaSemantic proximity Read ↗

Beyond MOG and AQP4 Antibodies: Alternative Causes of Optic NeuritisSemantic proximity Read ↗

Structural and Vascular Characteristics of PHOMS in Pediatric PseudopapilledemaSemantic proximity Read ↗

ARHGEF-10 gene mutation presenting as orbital inflammatory syndrome.Semantic proximity Read ↗

Structural and Vascular Characteristics of PHOMS in Pediatric Pseudopapilledema Running Title: PHOMS in Pediatric PseudopapilledemaSemantic proximity Read ↗

A Unique case of Bilateral Nanophthalmos and Pigmentary Retinal Abnormality with Unilateral Angle closure glaucoma and Optic Disc PitSemantic proximity Read ↗

Clinical Characteristics and Chronic Immunotherapy in Idiopathic Recurrent Neuroretinitis and Idiopathic Recurrent Papillitis: Describing a Potential New Phenotype.Semantic proximity Read ↗

Progressive optic disc cupping over 20 years in a patient with TBK1-associated glaucoma.Semantic proximity Read ↗

Posterior choroidal fluid loculation in central serous chorioretinopathy presenting as a choroidal elevation: A rare Pachychoroid phenotype.Semantic proximity Read ↗

Isolated Asymmetric Progressive Optic Neuropathy as a First Presentation of Charcot-Marie-Tooth Disease Type 2A.Semantic proximity Read ↗

Optic Neuropathy Associated with POLG Mutations: A Case Series and Literature Review.Semantic proximity Read ↗

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