Unique Variant of Cerebrotendinous Xanthomatosis Presenting With Eyelid Involvement Due to Heterozygous CYP7A1 and SLC10A1 Gene Mutations.

We report a case of a novel phenotypic variant of cerebrotendinous xanthomatosis (CTX) with an adult onset, caused by 2 coexisting mutations involving the CYP7A1 and SLC10A1 genes. A 49-year-old male patient presented with eyelid xanthomatosis associated with dermatochalasis, nystagmus, right-sided paresis with hyperreflexia and atypical parkinsonism. Bilateral xanthomatous plaques involving both Achilles tendons were subsequently detected.

Comparing outcomes of pediatric and adult external dacryocystorhinostomy in Nepal: Is age a prognostic factor?

We determine whether age is a prognostic factor for surgical outcomes of external dacryocystorhinostomy (Ex-DCR). This retrospective cohort study conducted at Tilganga Institute of Ophthalmology (Kathmandu, Nepal) compared pediatric Ex-DCR procedures (age ≤ 15 years) to adult Ex-DCR procedures (age > 15 years) and was performed between January 2013 and December 2013, with a minimum follow-up period of 6 months. Primary outcome measure was rate of success, defined as complete resolution of subjective symptom(s) of epiphora (subjective success), combined with patent lacrimal passage on syringing (anatomical success) at last follow-up visit.

Simbu Ptosis: An Outreach Approach to Myogenic Ptosis in Eastern Highlands of Papua New Guinea-Experience and Results From a High-Volume Oculoplastic Surgical Camp.

Purpose: To present the results of a high-volume oculoplastic surgical outreach in a remote region of Simbu Province in the Eastern Highlands of Papua New Guinea. The authors describe the clinical features and evaluation and treatment of a novel ptosis syndrome found in this area.

Design: A team of 4 international ophthalmologists and 3 local doctors and 3 local nurses involved in a high-volume field intervention for all patients presenting with a bilateral ptosis to Mingende Rural Hospital.

Duplex ultrasound as the sole long-term surveillance method post-endovascular aneurysm repair: a safe alternative for stable aneurysms.

Objective: Long-term surveillance with computed tomography (CT) after endovascular aneurysm repair (EVAR) increases both cost and risk. The purpose of this study was to evaluate the safety of an alternative follow-up modality with color flow duplex ultrasound scanning (CDU) as the sole method of imaging.

Methods: In 2003, we initiated a new follow-up (FU) schedule with yearly CDU as the sole imaging method for selected patients.