What question did this study set out to answer?

To characterize the distinctive retinal phenotype associated with INTS11-related neurodevelopmental disorders.

March 13, 2026Open Access

Characterizing a Unique Retinal Phenotype in INTS11 -Associated Neurodevelopmental Disorder

Key Points

To characterize the distinctive retinal phenotype associated with INTS11-related neurodevelopmental disorders.
Conducted comprehensive ophthalmic evaluations
Characterized retinal imaging findings
Analyzed retinal layer thickness
Discovered thinning of the inner retinal layers
Established retinopathy as a feature of INTS11 disorders
Expanded the phenotypic and genotypic understanding of the condition

Abstract

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.

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Cite This Study

Lin et al. (Wed,) studied this question.

synapsesocial.com/papers/69b3abb202a1e69014cccd89 https://doi.org/https://doi.org/10.1167/iovs.67.3.21

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