Underlying Disease in Atypical Retinopathy of Prematurity

IF 4.1 1区医学 Q1 OPHTHALMOLOGY

American Journal of Ophthalmology Pub Date : 2025-02-24 DOI:10.1016/j.ajo.2025.02.026

NATASHA F.S. DA CRUZ , JULIA L. HUDSON , JESSE D. SENGILLO , SERENA M. SHAH , FRANCISCO LOPEZ-FONT , CATHERIN I. NEGRON , MICHEL E. FARAH , AUDINA M. BERROCAL

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引用次数: 0

Abstract

Background and Objective

Retinopathy of prematurity (ROP), familial exudative vitreoretinopathy (FEVR), and telomere biology disorders (TBD) are classified as distinct diseases. However, emerging genetic research and evidence on multimodal imaging suggest a spectrum along which ROP may overlap with FEVR or TBD.

Design

Retrospective case series.

Methods

This was an institutional review board-approved, retrospective study. A literature review was performed, and medical records of all patients with phenotypic ROP evaluated by the pediatric retina service at Bascom Palmer Eye Institute from March 1, 2019 to July 30, 2023 were analyzed.

Results

Eighteen patients with phenotypic and genetically confirmed FEVR or TBD were identified. Of these, the initial diagnosis was ROP with preterm gestational age (n = 11, 57.9%) or ROP at moderate to late preterm gestational age (n = 8, 42.1%). Final diagnosis for 15 patients (78.9%) was FEVR, and final diagnosis for 4 patients (21.1%) was TBD. The most common genetic variants in the FEVR group were identified in the genes LRP5 (n = 5, 33.3%) and FZD4 (n = 3, 20%), and in the TBD group, CTC1 (n = 3; 75%). The mean age at diagnosis was 5.7 years old (range 0.3-36.7 years).

Conclusions

The authors reinforce the classification of ROPER (ROP and FEVR) and introduce the term, ROPMERE (ROP and TBD), to classify these patients in a way that reflects their clinical presentation and underlying genetic diagnosis. Identification of this subset of patients will allow for sustained surveillance of infants with these diseases.

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来源期刊

American Journal of Ophthalmology 医学-眼科学

CiteScore

9.20

自引率

7.10%

发文量

406

审稿时长

36 days

期刊介绍： The American Journal of Ophthalmology is a peer-reviewed, scientific publication that welcomes the submission of original, previously unpublished manuscripts directed to ophthalmologists and visual science specialists describing clinical investigations, clinical observations, and clinically relevant laboratory investigations. Published monthly since 1884, the full text of the American Journal of Ophthalmology and supplementary material are also presented online at www.AJO.com and on ScienceDirect. The American Journal of Ophthalmology publishes Full-Length Articles, Perspectives, Editorials, Correspondences, Books Reports and Announcements. Brief Reports and Case Reports are no longer published. We recommend submitting Brief Reports and Case Reports to our companion publication, the American Journal of Ophthalmology Case Reports. Manuscripts are accepted with the understanding that they have not been and will not be published elsewhere substantially in any format, and that there are no ethical problems with the content or data collection. Authors may be requested to produce the data upon which the manuscript is based and to answer expeditiously any questions about the manuscript or its authors.