Ocular Syndromic and Isolated Genetic Rare Diseases

Rare genetic diseases collectively affect millions worldwide, yet for most conditions, longitudinal data remain sparse and fragmented. In inherited ocular disorders and multisystem syndromic diseases with ocular involvement, variability in clinical presentation, age of onset, and rate of progression complicates diagnosis, prognosis, and therapeutic development. Advances in next-generation sequencing have accelerated gene discovery; however, deep phenotyping and standardized natural history data have not progressed at the same pace. The absence of harmonized registries and systematic phenotype characterization limits genotype–phenotype correlations, obscures phenotype expansion, and hinders readiness for emerging gene- and cell-based therapies. As precision medicine advances, robust, interoperable registries and well-designed natural history studies are increasingly essential to define disease trajectories, stratify patients, and establish meaningful clinical endpoints.This Research Topic aims to address the critical gap between genetic discovery and clinically actionable knowledge in rare inherited diseases with isolated ocular or syndromic manifestations. Despite rapid progress in molecular diagnostics and therapeutic innovation, many conditions lack comprehensive phenotype characterization and longitudinal data necessary for trial design, endpoint validation, and regulatory readiness. Furthermore, phenotype expansion and variable expressivity continue to challenge clinical interpretation and genetic counseling.Through this collection, we seek to consolidate current advances in patient registries, natural history methodologies, deep phenotyping approaches, and data harmonization frameworks. We aim to highlight innovative registry designs, cross-border collaborations, digital health integration, imaging-based biomarkers, and genotype–phenotype refinement strategies. By fostering dialogue between clinicians, geneticists, data scientists, and patient communities, this Research Topic intends to support the development of standardized, ethically governed data infrastructures that accelerate translational research and improve preparedness for gene-targeted and other advanced therapies.We welcome original research, systematic reviews, methodological papers, perspective articles, and brief reports addressing registries, natural history studies, and clinical phenotype characterization in rare genetic diseases with isolated ocular or syndromic presentations. Topics of interest include, but are not limited to:- Design and implementation of disease-specific or cross-disease registries- Harmonization and interoperability of registry data- Natural history study methodologies and longitudinal outcome measures- Genotype–phenotype correlations and phenotype expansion- Imaging, functional, and molecular biomarkers- Digital tools and real-world data integration- Ethical governance and patient engagement models- Trial readiness and endpoint developmentWe encourage multidisciplinary contributions that advance standardized, scalable tools for capturing high-quality clinical data and strengthening translational pathways in rare genetic diseases.Please ensure your manuscript aligns with our article type guidelines, as specified here (https://www.frontiersin.org/journals/genetics/for-authors/article-types), paying particular attention to the case report guidelines. Further information about our case report acceptance criteria can be found here (https://www.frontiersin.org/journals/genetics/sections/genetics-of-common-and-rare-diseases/about). Topic editors: Marianna Weener, Babak Behnam, Akiko Suga Source: https://www.frontiersin.org/research-topics/78436/ocular-syndromic-and-isolated-genetic-rare-diseases