Characterizing a Unique Retinal Phenotype in <i>INTS11</i> -Associated Neurodevelopmental Disorder
This study consolidates retinopathy as a feature of INTS11-associated neurodevelopmental disorders and provides a detailed characterization of a distinctive retinal phenotype. While most monogenic retinopathies affect the outer retina, this disease leads to thinning of the inner retinal layers. The findings underscore the importance of comprehensive ophthalmic evaluations in such cases. Furthermore, the study expands both the phenotypic and genotypic spectrum of INTS11-associated disorders.
Authors
- Su Lin (ORCID: https://orcid.org/0000-0001-7517-9859)
- Brian McMillan (ORCID: https://orcid.org/0000-0002-0683-3877)
- Monique Leys (ORCID: https://orcid.org/0000-0002-1288-1824)
- Wendy D. Tan
- Omar A. Mahroo (ORCID: https://orcid.org/0000-0003-1254-0832)
- Paul Gissen (ORCID: https://orcid.org/0000-0002-9712-6122)
- A. R. Robson
- Elena R. Schiff
- Gavin Arno
- J. Vernon Odom
- Andrew R. Webster
Institutions
- West Virginia University (US)
- St Thomas' Hospital (GB)
- Great Ormond Street Hospital (GB)
- University of Manchester (GB)
- National Institute for Health and Care Research (GB)
- Manchester University NHS Foundation Trust (GB)
- St Mary's Hospital (GB)
- Greenwood Genetic Center (US)
- Moorfields Eye Hospital (GB)
- Genomics (United Kingdom) (GB)
- University College London (GB)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2026-03-11
- DOI
- https://doi.org/10.1167/iovs.67.3.21
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00