Rare pediatric retinal diseases: A review
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Date
2025-05
Journal Title
Journal ISSN
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Publisher
Wolters Kluwer – Medknow
Abstract
Rare pediatric retinal disorders present significant challenges in diagnosis and management due to their limited prevalence and diverse clinical manifestations. This paper provides a comprehensive review of select rare retinal disorders affecting the pediatric population, focussing a brief on their epidemiology, clinical characteristics, diagnostic modalities, and therapeutic interventions. Through a systematic examination of current literature and clinical case studies, this review aims to elucidate the distinct features and challenges associated with each disorder. Despite the rarity of these conditions, their impact on visual function and quality of life necessitates heightened awareness among clinicians and researchers to facilitate timely diagnosis, appropriate management, and improved outcomes for affected children as their visual systems are still developing. Furthermore, advancements in diagnostic modalities such as fundus fluorescein angiography, optical coherence tomography, electroretinography, and genetic testing are examined for their role in enhancing our understanding of rare pediatric retinal disorders and facilitating early intervention strategies. The literature selection for this article was conducted through PubMed, Google Scholar, and the Cochrane Library databases. A thorough systematic search was carried out for the concerned diseases. Relevant review articles, original research studies, case series, and reports were examined. Additionally, references from these sources were reviewed and included if they provided pertinent information on the topic. The search was not restricted by publication date.
Description
Keywords
Coats disease, familial exudative vitreoretinopathy, incontinentia pigmenti, inherited diseases, pediatric uveitis, persistent fetal vasculature, pediatric retinal diseases, retinoschisis, shaken baby syndrome, sticklers, tumors
Citation
Vinekar Anand, Wu Wei-Chi, Lorenz Birgit, Bavaskar Snehal, Berrocal Audina, Lopez-Cañizares Ashley, Fung Nicholas, Lam Wai Ching, M.llop Stephanie, Mangalesh Shwetha, Ozdek Sengul, Toth Cynthia. Rare pediatric retinal diseases: A review. Indian Journal of Ophthalmology. 2025 May; 73(5): 622-636