Evidence map›Paper›PMID 40190376›Full record

ReviewNeuro-ophthalmology (Aeolus Press)2025

Biotinidase Deficiency Induced Optic Neuropathy: A Case Report and Literature Review.

Angela A Cao, Meghan M Brown, Michael S Lee, Anita M Rashidi, Vania Rashidi

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Neuro-ophthalmology (Aeolus Press), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Angela A CaoDepartment of Ophthalmology and Visual Neurosciences, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
Meghan M BrownDepartment of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota, USA.
Michael S LeeDepartment of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota, USA.
Anita M RashidiDepartment of Ecology and Evolutionary Biology, University of California, Irvine, Irvine, California, USA.
Vania RashidiDepartment of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a case of a 19-year-old Somali American woman who presented with 6 months of progressive bilateral vision changes and ocular discharge, with systemic symptoms including angular cheilitis and dermatitis. The patient was evaluated with comprehensive ophthalmic examination, optical coherence tomography, corticospinal magnetic resonance imaging, and fundus imaging. Comprehensive ophthalmic examination revealed bilateral optic neuropathy. Laboratory testing showed a biotinidase level of <0.1 (normal, 5.5-10 nmol/min/ml). The patient was treated with oral biotin supplementation with improvement in her visual function. Furthermore, a review of the literature of reported cases of biotinidase deficiency optic neuropathy published between June 1987 and February 2024 revealed 40 cases. This entity presents more commonly in males (63%) (

Indexed as

Biotinidase deficiencybiotin treatmentoptic atrophyoptic neuritisoptic neuropathy

Identifiers

PMID40190376
PMCPMC11970739

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.