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Case reportMolecular genetics & genomic medicine · 2026

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

Mauro Lecca, Chiara Bosetti, Federico Ruoli … Edoardo Errichiello

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OphthalmologyCase report

Nearly half of NEDIHSS patients have eye abnormalities, mainly retinal vascular defects.

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

Mauro Lecca … Edoardo Errichiello

Molecular genetics & genomic medicine · 2026

Background

Endothelial cell-selective adhesion molecule (ESAM) is a tight junction protein essential for blood-brain barrier integrity and angiogenesis.

Methods

A multidisciplinary team of pediatric neurologists, ophthalmologists, and clinical geneticists evaluated the proband through clinical assessment, neuro/ocular imaging, and whole-exome sequencing.

n = 22 individuals

45% (10/22)

Results

45% (10/22)

nearly half had eye exams reveal abnormalities, mostly damaged retinal blood vessels

n = 22 individuals

More results

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.

More results

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

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Conclusion

This case broadens the mutational and clinical spectrum of ESAM-related disease, underscores the need for detailed ocular evaluations in NEDIHSS, and supports inclusion of retinal anomalies within its core phenotype.

Post

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

Nearly half of NEDIHSS patients have eye abnormalities, mainly retinal vascular defects.

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