ArticleThe American journal of case reports2026
Persistent Bilateral Optic Disc Swelling in Non-Syndromic Retinitis Pigmentosa: A Case Report.
Article in The American journal of case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 vitreoretinal division at King Khaled Eye Specialist Hospital with nyctalopia and constricted visual fields in both eyes. Fundoscopic examination revealed widespread retinal pigment epithelial mottling, attenuated retinal blood vessels, and bilateral hyperemic optic nerve swelling. Multimodal imaging, including fundus autofluorescence, fluorescein angiography, optical coherence tomography, and ocular ultrasonography, confirmed true optic disc edema. Magnetic resonance imaging and arteriography/venography showed bilateral optic nerve head swelling without enhancement or radiographic signs of intracranial hypertension. Lumbar puncture revealed normal opening pressure and unremarkable cerebrospinal fluid analysis. The patient was diagnosed with RP, which was confirmed using electroretinography. Whole-exome sequencing revealed a homozygous c.1256G>A p.(Arg419GIn) variant in the tubby-line protein 1 gene (TULP1). The patient was followed for 2 years, during which visual function and optic disc appearance remained stable without treatment. CONCLUSIONS This case highlights a rare presentation of persistent bilateral true disc swelling in a patient with non-syndromic RP due to TULP1 mutation. Unlike previously reported cases, our patient showed persistent disc swelling that remained stable for over 2 years without treatment. This observation expands the phenotypic spectrum of RP and suggests that a non-progressive disc swelling may be part of the disease presentation in certain genetic subtypes such as TULP1.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.