Ectopic vortex veins and varices in Donnai Barrow syndrome.

BACKGROUND: Donnai Barrow Syndrome (DBS) is a rare, multi-system autosomal recessively inherited disorder of relevance to ophthalmologists. To aim to describe the ocular phenotype using multimodal imaging for two cases of genetically confirmed DBS and compare against the published phenotype. MATERIALS AND METHODS: Retrospective case series of two unrelated patients with DBS and review of the literature. Both cases were referred to our tertiary unit for laser prophylaxis against retinal detachment. RESULTS: There was extreme high myopia greater than 20 dioptres without rhegmatogenous retinal detachment (RRD). Anterior segment features included iris transillumination and ciliary body hypoplasia. Posterior segment changes included previously described changes of optic nerve hypoplasia and a strikingly abnormal appearance of the fundus consisting of multiple bilateral giant posterior vortex veins (PVV). The mouse model shows a similar phenotype. CONCLUSIONS: Ectopic vortex veins of the choroid expand the phenotype of DBS and can be helpful in distinguishing the differential diagnosis of high myopia in children. Posterior vortex veins have been described in adult high myopia as acquired but our cases suggest that they could be congenital. Orbital manipulation and hypotony during surgery should be avoided to minimise complications. The evidence to recommend prophylactic laser retinopexy in these cases is inconclusive, and overall we recommend that conservative management should be considered using wide-angle retinal imaging in the clinic.

Causes of Death and End-of-Life Care in Patients With Intracranial High-Grade Gliomas: A Retrospective Observational Study.

BACKGROUND AND OBJECTIVES: To understand patterns of care and circumstances surrounding end of life in patients with intracranial gliomas. METHODS: We retrospectively analyzed end-of-life circumstances in patients with intracranial high-grade gliomas at Columbia University Irving Medical Center who died from January 2014 to February 2019, including cause of death, location of death, and implementation of comfort measures and resuscitative efforts. RESULTS: There were 152 patients (95 men, 57 women; median age at death 61.5 years, range 24-87 years) who died from January 2014 to February 2019 with adequate data surrounding end-of-life circumstances. Clinical tumor progression (n = 117, 77.0%) was the most common cause of death, with all patients transitioned to comfort measures. Other causes included, but were not limited to, infection (19, 12.5%); intratumoral hemorrhage (5, 3.3%); seizures (8, 5.3%); cerebral edema (4, 2.6%); pulmonary embolism (4, 2.6%); autonomic failure (2, 1.3%); and hemorrhagic shock (2, 1.3%). Multiple mortal events were identified in 10 (8.5%). Seventy-three patients (48.0%) died at home with hospice. Other locations were inpatient hospice (40, 26.3%); acute care hospital (34, 22.4%), including 27 (17.8%) with and 7 (4.6%) without comfort measures; skilled nursing facility (4, 3.3%), including 3 (2.0%) with and 1 (0.7%) without comfort measures; or religious facility (1, 0.7%) with comfort measures. Acute cardiac or pulmonary resuscitation was performed in 20 patients (13.2%). DISCUSSION: Clinical tumor progression was the most common (77.0%) cause of death, followed by infection (12.5%). Hospice or comfort measures were ultimately implemented in 94.7% of patients, although resuscitation was performed in 13.2%. Improved understanding of circumstances surrounding death, frequency of use of hospice services, and frequency of resuscitative efforts in patients with gliomas may allow physicians to more accurately discuss end-of-life expectations with patients and caregivers, facilitating informed care planning.