ReviewHuman genomics2026
Elucidating the genetic landscape of inherited retinal disorders in India.
Review in Human genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInherited retinal diseases (IRDs) are highly diverse and rare genetic disorders causing mild to complete vision loss across different age groups, with a notably higher disease burden in India. Although genetic testing has improved diagnostic accuracy, India's distinct genetic landscape, shaped by diverse racial backgrounds, admixtures, endogamy, and consanguinity, presents unique challenges. Additionally, phenotype overlaps, non-canonical presentations, genetic heterogeneity, and insufficient literature evidence contribute to clinically and genetically unsolved cases. Since genetic variant reporting commonly relies on information from non-Indian population databases, it is important to build comprehensive knowledge from published Indian data for its unbiased representation in relevant clinical resources. This review aims to assess the current state of Indian IRD research and its lacunae, as this understanding is essential to gauge the readiness of research institutions and tertiary centres for maximizing accessibility to genetic testing and potential treatment options.
methodsWe screened 764 PubMed-sourced Indian IRD articles until October 2023 and analysed 21,158 IRD cases from 287 publications reporting clinical and/or genetic data, and further found that 80 publications (n = 628 cases) reported genetic variants (v = 686 variants). Relevant literature was analysed to assess demographic distribution, genetic trends and the research landscape in India. RESULTS AND CLINICAL SIGNIFICANCE: Our analyses draw a comprehensive sketch of publication-derived demographics and genetic insights into major IRDs reported in India. They emphasize the urgent need for comprehensive and timely clinical and genetic reporting, since Indian IRD research remains fragmented. This calls for integrated nationwide efforts in systematic reporting through an extensive national IRD case registry for improving diagnostic accuracy, enhancing patient recruitment for clinical trials, and expanding access to emerging therapeutics.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.