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Article

Characterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder.

Investigative ophthalmology & visual science - 2 Mar 2026

Lin Siying, Tan Wendy D, Robson Anthony G, Arno Gavin, Gissen Paul, Schiff Elena R, McMillan Brian, Odom J Vernon, Mahroo Omar A, Webster Andrew R, Leys Monique

Abstract excerpt

Purpose: To characterize the retinal phenotype associated with INTS11-related neurodevelopmental disorder, expanding the phenotypic and genotypic spectrum of this newly described condition. Methods: Four affected individuals with biallelic INTS11 variants from two unrelated families were evaluated through comprehensive ophthalmic and systemic clinical assessments, including multimodal retinal imaging and...

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Identifiers

PMID: 41810893
DOI: 10.1167/iovs.67.3.21
PMCID: PMC12988679

Genes

INTS11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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