Evidence map›Paper›PMID 39062658›Full record

ArticleGenes2024

Myopic Macular Hole and Detachment after Gene Therapy in Atypical RPE65 Retinal Dystrophy: A Case Report.

Fabrizio Giansanti, Cristina Nicolosi, Dario Giorgio, Andrea Sodi, Dario Pasquale Mucciolo, Laura Pavese, Liliana Pollazzi, Gianni Virgili, Giulio Vicini, Ilaria Passerini and 2 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–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

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
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

12 authors.

Fabrizio GiansantiEye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.ORCID 0000-0002-4107-2807
Cristina NicolosiEye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.ORCID 0000-0002-7384-3717
Dario GiorgioDepartment of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy.
Andrea SodiEye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.
Dario Pasquale MuccioloEye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.ORCID 0000-0002-1661-5312
Laura PaveseDepartment of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy.
Liliana PollazziEye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.
Gianni VirgiliEye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.ORCID 0000-0002-9960-2989
Giulio ViciniDepartment of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy.ORCID 0000-0001-7646-7422
Ilaria PasseriniSODc Diagnostica Genetica, Careggi University Hospital, 50134 Florence, Italy.ORCID 0000-0002-7000-7457
Elisabetta PeloSODc Diagnostica Genetica, Careggi University Hospital, 50134 Florence, Italy.
Vittoria MurroEye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.

Funding

Italian Ministry of Health, the Tuscany Region and the Sicily Region NET-2016-02363765
6 · The paper itself

Abstract

purposeTo report a case of macular hole and detachment occurring after the subretinal injection of Voretigene Neparvovec (VN) in a patient affected by atypical RPE65 retinal dystrophy with high myopia and its successful surgical management. CASE DESCRIPTION: We report a case of a 70-year-old man treated with VN in both eyes. The best corrected visual acuity (BCVA) was 0.7 LogMar in the right eye (RE) and 0.92 LogMar in the left eye (LE). Axial length was 29.60 mm in the RE and 30.28 mm in the LE. Both eyes were pseudophakic. In both eyes, fundus examination revealed high myopia, posterior staphyloma, and extended retinal atrophy areas at the posterior pole, circumscribing a central island of surviving retina. Both eyes were treated with VN subretinal injection, but a full-thickness macular hole and retinal detachment occurred in the LE three weeks after surgery. The patient underwent 23-gauge vitrectomy with internal limiting membrane (ILM) peeling and the inverted flap technique with sulfur hexafluoride (SF6) 20% tamponade. Postoperative follow-up showed that the macular hole was closed and the BCVA was maintained.

conclusionsOur experience suggests that patients with atypical RPE65 retinal dystrophy and high myopia undergoing VN subretinal injection require careful management to minimize the risk of macular hole and detachment occurrence and promptly detect and address these potential complications.

Indexed as

cis-trans-IsomerasesGenetic TherapyRetinal DetachmentRetinal DystrophiesRetinal PerforationsAgedHumansMaleMyopiaRetinoid IsomerohydrolaseVisual AcuityVitrectomycis-trans-IsomerasesRetinoid Isomerohydrolasecomplicationsgene therapymacular holeretinitis pigmentosaRPE65voretigene neparvovec

Identifiers

PMID39062658
PMCPMC11276487

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Registered trials

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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.