Evaluation of Optokinetic Nystagmus Asymmetry in Surgically Treated Infantile Esotropia Patients

Aim: To evaluate the relationship between binocularity and optokinetic nystagmus asymmetry (OKN) in patients with infantile esotropia

Delayed diagnosis of an intraorbital wooden foreign body

A 35-year-old male patient was presented with pain on his right upper eyelid. A piece of wood injured his orbital and supraorbital regions while working at a furniture factory 10 days prior to our hospital admission. It was learned that the patient was discharged following the primary would closure procedure. Subsequent to the craniofacial computed tomography, primary wound closure was performed in the emergency room of previous hospital. In our clinic, a skin suturing on the nasal side of the right eyebrow was inspected and a foreign body (FB) was palpated on the superonasal contiguity of the patients' right globe. A hyperdense FB measuring 30x10x5mm in size with smooth margins on superonasal contour of the globe was detected. Superonasal orbitotomy was performed and the FB was completely removed. Finally, visual acuity was 20/20 and a mild residual ptosis was observed

Anterior Segment Analysis and Evaluation of Corneal Biomechanical Properties in Children with Joint Hypermobility

Objectives: To compare anterior segment parameters and biomechanical analysis of the cornea in children with joint hypermobility (JH) and healthy children

Orbital muscle involvement in a child with familial Mediterranean fever

Familial Mediterranean fever is an autosomal recessively inherited autoinflammatory disorder characterized by recurrent attacks of fever, serositis and synovitis. Various atypical presentations have been reported in the literature. Herein, we report a case of orbital myositis presenting with acute and devastating ocular symptoms resembling orbital cellulitis in a 12-year-old boy with familial Mediterranean fever

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of intracerebral hemorrhage (ICH). We discovered a rare disease trait in thirteen individuals, including four fetuses, from eight unrelated families associated with homozygous loss-of-function variant alleles of ESAM which encodes an endothelial cell adhesion molecule. The c.115del (p.Arg39Glyfs∗33) variant, identified in six individuals from four independent families of Southeastern Anatolia, severely impaired the in vitro tubulogenic process of endothelial colony-forming cells, recapitulating previous evidence in null mice, and caused lack of ESAM expression in the capillary endothelial cells of damaged brain. Affected individuals with bi-allelic ESAM variants showed profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/cerebral calcifications, the latter being also observed in the fetuses. Phenotypic traits observed in individuals with bi-allelic ESAM variants overlap very closely with other known conditions characterized by endothelial dysfunction due to mutation of genes encoding tight junction molecules. Our findings emphasize the role of brain endothelial dysfunction in NDDs and contribute to the expansion of an emerging group of diseases that we propose to rename as “tightjunctionopathies.

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of intracerebral hemorrhage (ICH). We discovered a rare disease trait in thirteen individuals, including four fetuses, from eight unrelated families associated with homozygous loss-of-function variant alleles of ESAM which encodes an endothelial cell adhesion molecule. The c.115del (p.Arg39Glyfs∗33) variant, identified in six individuals from four independent families of Southeastern Anatolia, severely impaired the in vitro tubulogenic process of endothelial colony-forming cells, recapitulating previous evidence in null mice, and caused lack of ESAM expression in the capillary endothelial cells of damaged brain. Affected individuals with bi-allelic ESAM variants showed profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/cerebral calcifications, the latter being also observed in the fetuses. Phenotypic traits observed in individuals with bi-allelic ESAM variants overlap very closely with other known conditions characterized by endothelial dysfunction due to mutation of genes encoding tight junction molecules. Our findings emphasize the role of brain endothelial dysfunction in NDDs and contribute to the expansion of an emerging group of diseases that we propose to rename as “tightjunctionopathies.