Characterizing a Unique Retinal Phenotype in INTS11 -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.