A case report of retinal dystrophy in patients with PACS1 syndrome.

PACS1 syndrome, also referred to as Schuurs-Hoeijmakers syndrome, is a multisystemic developmental disorder caused by a specific pathogenic variant in the PACS1 (phosphofurin acidic cluster sorting protein 1) gene. Ocular findings in PACS1 syndrome are known to include iris, retina, optic nerve coloboma, myopia, nystagmus, and strabismus. Here, we present the cases of two patients referred to the University of Wisconsin-Madison Department of Ophthalmology and Visual Sciences for ocular evaluation.

variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone.

Background: Membrane frizzled-related protein (MFRP) plays a critical role in ocular development. mutations are known to cause nanophthalmos and, in some cases, retinitis pigmentosa, foveoschisis, and/or optic nerve head (ONH) drusen. The broad clinical spectrum of mutations necessitates further investigation of specific genotype-phenotype relationships.

Impact of Amblyopia on the Central Nervous System.

Amblyopia is a common perceptual disorder resulting from abnormal visual input during development. The clinical presentation and visual deficits associated with amblyopia are well characterized. Less is known however, about amblyopia's impact on the central nervous system (CNS).

Risk Factors for Intracardiac Thrombus During Liver Transplantation.

Intracardiac thrombus (ICT) is an intraoperative complication with high mortality that occurs during orthotopic liver transplantation (OLT). Patients with end-stage liver disease have compromised coagulation pathways, and when combined with stressors of surgery, thrombi can form. However, it is unknown which patients are most likely to develop ICT.