Phenotypic Refinement of ESAM-Related Tight-Junctionopathy: Novel Genetic and Ocular Findings and Literature Review.

We describe a 3-year-old male from consanguineous Albanian parents carrying a novel homozygous splice-site ESAM variant (c.70+1G>T).

He presented with GDD, seizures, and brain imaging abnormalities consistent with NEDIHSS.

Remarkably, bilateral optic nerve hypoplasia, esotropia, retinal detachment, absent electroretinogram response, and structural eye anomalies, including left eyeball hypoplasia and iris displacement, were observed.