Underlying Disease in Atypical Retinopathy of Prematurity

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.