Evidence map›Paper›PMID 39936367›Full record

ArticleEuropean journal of ophthalmology2025

Torpedo maculopathy in a patient with DeSanto-Shinawi syndrome.

Sergio Petroni, Gino Catena, Giancarlo Iarossi, Matteo Federici, Gaetano Zinzanella, Carlo Maria De Sanctis, Paola Valente, Luca Buzzonetti

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In one paragraph

Article in European journal of ophthalmology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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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

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5 · Who and what money

Authors and funding

8 authors.

Sergio PetroniBambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID 0000-0003-0449-969X
Gino CatenaBambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Giancarlo IarossiBambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Matteo FedericiBambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Gaetano ZinzanellaBambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Carlo Maria De SanctisBambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Paola ValenteBambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Luca BuzzonettiBambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID 0000-0002-3200-3260

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

IntroductionTorpedo maculopathy (TM) is a rare, typically benign and congenital anomaly of the retinal pigment epithelium (RPE) characterized by a torpedo-shaped lesion in the macula. DeSanto-Shinawi syndrome (DESS) is an equally rare genetic disorder caused by mutations in the WAC gene, presenting with intellectual disability, dysmorphic features, and growth retardation.Case descriptionThis report illustrates the case of monolateral TM in a patient with DESS. The genetic and phenotypic characteristic were described and correlated with retinal features, assessed by means of retinography, spectral domain OCT (SD-OCT) and fluorescein angiography (FA).ConclusionThis case report discusses the unusual co-occurrence of TM in a patient diagnosed with DESS, contributing to the sparse literature on this association and expanding the phenotypic spectrum of both conditions.

Indexed as

Intellectual DisabilityRetinal DiseasesRetinal Pigment EpitheliumFluorescein AngiographyHumansMutationTomography, Optical CoherenceVisual Acuitycongenital and stationary retinal disease < retinagenetic disease / congenital abnormalities < pediatric ophthalmologylearning disabilities/dyslexia < pediatric ophthalmologyPediatric ophthalmologyvitreous / retinal disease < pediatric ophthalmology

Identifiers

PMID39936367
PMCPMC12012276

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