Evidence map›Paper›PMID 37373893›Full record

ReviewJournal of personalized medicine2023

Ophthalmic Manifestations in Fabry Disease: Updated Review.

Gloria Gambini, Luca Scartozzi, Federico Giannuzzi, Matteo Mario Carlà, Francesco Boselli, Tomaso Caporossi, Umberto De Vico, Antonio Baldascino, Stanislao Rizzo

Open access · goldAbstract readReview
In one paragraph

Review in Journal of personalized medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.6field-weighted citation impact, top 10% of its field
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

11 citing papers in PubMed, 15 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. The relationship between retinal vascular tortuosity and retinal vasculitis.Journal of ophthalmic inflammation and infection · 2025
    Article
  5. Article
  6. Review
  7. Article
  8. Sequential central retinal artery occlusion in two brothers: a fight to prevent blindness.Documenta ophthalmologica. Advances in ophthalmology · 2025
    Article
  9. Observational
  10. Frontiers in medicine · 2025
    Article
  11. Fabry disease: a rare disorder calling for personalized medicine.International urology and nephrology · 2024
    Review
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

9 authors at 1 institution in 1 country.

Gloria GambiniOphthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.
Luca ScartozziOphthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.
Federico GiannuzziOphthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.
Matteo Mario CarlàOphthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.ORCID 0000-0003-2979-1638
Francesco BoselliOphthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.
Tomaso CaporossiOphthalmology Department, Catholic University "Sacro Cuore", 20123 Rome, Italy.ORCID 0000-0002-6902-2983
Umberto De VicoOphthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.
Antonio BaldascinoOphthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.ORCID 0000-0002-8934-8665
Stanislao RizzoOphthalmology Department, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.
Università Cattolica del Sacro Cuore · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fabry disease (FD) is an X-linked lysosomal storage disorder, causing Gb-3 (globotriaosylceramide) buildup in cellular lysosomes throughout the body, in particular in blood vessel walls, neuronal cells, and smooth muscle. The gradual accumulation of this glycosphingolipid in numerous eye tissues causes conjunctival vascular abnormalities, corneal epithelial opacities (cornea verticillata), lens opacities, and retinal vascular abnormalities. Although a severe vision impairment is rare, these abnormalities are diagnostic indicators and prognostics for severity. Cornea verticillata is the most common ophthalmic feature in both hemizygous men and heterozygous females. Vessel tortuosity has been linked to a faster disease progression and may be useful in predicting systemic involvement. New technologies such as optical coherence tomography angiography (OCTA) are useful for monitoring retinal microvasculature alterations in FD patients. Along with OCTA, corneal topographic analysis, confocal microscopy, and electro-functional examinations, contributed to the recognition of ocular abnormalities and have been correlated with systemic involvement. We offer an update regarding FD ocular manifestations, focusing on findings derived from the most recent imaging modalities, to optimize the management of this pathology.

Indexed as

cornea verticillataFabry diseasefocal electroretinographyfoveal avascular zonehyper-reflective focivascular tortuosityvortex keratopathy

Identifiers

PMID37373893
PMCPMC10305323
OpenAlexW4378527973

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.