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Underlying Disease in Atypical Retinopathy of Prematurity
Natasha F S da Cruz1, Julia L Hudson2, Jesse D Sengillo2
1Department of Ophthalmology (N.D.C., J.H., J.S., S.S., F.L.F., C.N., A.B.), Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, United States; Department of Ophthalmology (N.D.C., M.F.), Federal University of São Paulo, Escola Paulista de Medicina, São Paulo, Brazil; Department of Ophthalmology, Centro Ocular (N.D.C.), Belém, Brazil.
Insights
Retinopathy of prematurity (ROP) can overlap with familial exudative vitreoretinopathy (FEVR) and telomere biology disorders (TBD). New classifications, ROPER and ROPMERE, aid in identifying and managing these spectrum diseases.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Retinopathy of prematurity (ROP), familial exudative vitreoretinopathy (FEVR), and telomere biology disorders (TBD) are typically distinct diagnoses.
- Emerging genetic data and imaging suggest a potential spectrum linking ROP with FEVR or TBD.
Purpose of the Study:
- To investigate the overlap between ROP, FEVR, and TBD.
- To propose new classifications for patients presenting with features of ROP and FEVR/TBD.
Main Methods:
- Retrospective case series analysis of patients with phenotypic ROP.
- Literature review and analysis of medical records from a pediatric retina service.
- Genetic confirmation of FEVR or TBD in identified patients.
Main Results:
- Eighteen patients with genetically confirmed FEVR or TBD initially diagnosed with ROP were identified.
- The majority were ultimately diagnosed with FEVR (78.9%) or TBD (21.1%).
- Common genetic variants included LRP5 and FZD4 in FEVR, and CTC1 in TBD.
Conclusions:
- The study reinforces the classification of ROPER (ROP and FEVR).
- Introduces ROPMERE (ROP and TBD) to categorize these overlapping conditions.
- Facilitates sustained surveillance for infants with these spectrum diseases.
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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