Optical Coherence Tomography in Knobloch Syndrome.

Background And Objective: Knobloch syndrome is a genetic disorder defined by occipital defect, high myopia, and vitreoretinal degeneration. The authors studied retinal changes in patients with Knobloch syndrome using optical coherence tomography (OCT).

Patients And Methods: The authors report patients with Knobloch syndrome who received OCT testing during their care from 2011 to 2016.

Retinal Findings in Young Children With Increased Intracranial Pressure From Nontraumatic Causes.

Objectives: Increased intracranial pressure (ICP) has been suggested in legal settings as an alternative cause of retinal hemorrhages (RHs) in young children who may have sustained abusive head trauma. We assessed the prevalence and characteristics of RHs in children with increased ICP.

Methods: We conducted a prospective, multicenter study of children <4 years old with newly diagnosed increased ICP as determined by using direct measurement and/or clinical criteria.

PATHOLOGY OF PERIMACULAR FOLDS DUE TO VITREORETINAL TRACTION IN ABUSIVE HEAD TRAUMA.

Purpose: To demonstrate vitreoretinal traction as a mechanism for perimacular folds in abusive head trauma.

Methods: We performed gross and histopathologic examination of eyes of children with suspected abusive head trauma and identified those with typical perimacular folds. Information was collected regarding the incident that led to the child's death and systemic manifestations noted at autopsy.

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.

Background/aims: Pigmentary retinal dystrophy and macular dystrophy have been previously reported in Heimler syndrome due to mutations in PEX1. Here we reported the ocular manifestations in Heimler syndrome due to mutations in PEX6.

Materials And Methods: Medical records were reviewed to identify patient demographics, ophthalmic and systemic findings, and results of diagnostic testing including whole genome sequencing.