Purpose: Best vitelliform macular dystrophy is an inherited macular dystrophy associated with over 250 pathogenic variants of the Bestrophin-1 ( BEST1 ) gene. Although several types of lesions of best vitelliform macular dystrophy are well-described, reports of phenotypic variations associated with rare genetic variants are limited.
Methods: This was a retrospective case series performed in 2021 at a tertiary eye care center.
Although the overall survival prognosis of patients in advanced stages of pancreatic ductal adenocarcinoma (PDAC) is poor, typically ranging from days to months from diagnosis, there are rare cases of patients remaining in therapy for longer periods of time. Early estimations of survival prognosis would allow rational decisions on complex therapy interventions, including radical surgery and robust systemic therapy regimens. Understandably, there is great interest in finding prognostic markers that can be used for patient stratification.
View Article and Find Full Text PDFBackground: -related eye disorder is a rare autosomal recessive disease with a wide spectrum of severity and expressivity. We describe the genotypic and phenotypic findings in a cohort of Ohio Anabaptist with a pathogenic gene sequence variation.
Methods: Patient phenotypes were gathered from clinical data.
Background: The intraoperative relaxed muscle positioning (IRMP) technique for strabismus surgery in thyroid eye disease (TED) involves recessing muscles' insertions to positions where they rest without tension. We evaluate the long-term outcomes of patients who underwent surgery using this technique.
Methods: The medical records of patients with TED and diplopia who underwent strabismus surgery with IRMP between 1999 and 2021 were reviewed retrospectively.