Blended collagenopathy and optic atrophy: a novel phenotype

We report 3 siblings born to consanguineous parents who presented with visual loss secondary to bilateral optic atrophy, along with consistent systemic features, such as dysmorphic facies, sensorineural hearing loss, skeletal anomalies, and global developmental delay. Imaging revealed severe optic canal narrowing with associated nerve compression. Genetic analysis in the eldest sibling identified likely pathogenic heterozygous variants in both COL2A1 and COL11A2 genes, indicating a dual collagenopathy phenotype. This case series underscores the importance of considering blended genetic diagnoses in complex phenotypes and highlights the role of optic canal stenosis as a significant cause of vision loss in collagen-related skeletal dysplasias.