Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) due to polyAla site variant in diagnostic challenges with NGS.

This report presents a case of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) identified in a term neonate. This patient presented with the four typical ophthalmic signs: short horizontal palpebral fissures (blepharophimosis), impaired levator palpebrae superioris muscle function leading to drooping of upper eyelids (ptosis), skin folding on the medial lower eyelid ascending to the upper eyelid (epicanthus inversus) and increased medial intercanthal distance (telecanthus). On genetic analysis, a polyalanine (polyAla) tract expansion in the gene was identified.

Application of WINROP to predict severe retinopathy of prematurity in a multi-ethnic cohort in Singapore.

Aim: To investigate the validity of WINROP use in multi-ethnic population in a tertiary centre in Singapore.

Methods: Birth weight, gestational age, and weekly weight measurements of four hundred two preterm infants (<32 weeks gestation) born between year 2011 and 2019 were entered into WINROP algorithm. Based on their weekly weight gain, WINROP algorithm would signal an alarm if the infant is at risk for type 1 ROP requiring treatment.

Transition probabilities of diabetic retinopathy and death in an Asian population with diabetes.

Purpose: To evaluate the dynamic transitions in diabetic retinopathy (DR) severity over time and associated risk factors in an Asian population with diabetes.

Design: Longitudinal cohort study METHODS: We analyzed data from 9481 adults in the Singapore Integrated Diabetic Retinopathy Screening Program (2010-2015) with linkage to death registry. A multistate Markov model adjusted for age, sex, systolic blood pressure (SBP), diabetes duration, HbA1c, and body mass index (BMI) was applied to estimate annual transition probabilities between four DR states (no, mild, moderate, and severe/proliferative) and death, and the mean sojourn time in each state.

Visual Impairment, Major Eye Diseases, and Mortality in a Multi-Ethnic Asian Population and a Meta-analysis of Prospective Studies.

Purpose: Vision impairment (VI) is associated with poor quality of life and increased risk of falls. Few prospective data are available on Asians. This study investigates the longitudinal impact of VI and the major eye diseases on mortality risk in Asians.

Serum leptin and age-related macular degeneration.

Purpose: Leptin, a 167-amino acid protein secreted by adipocytes, has been shown to reduce beta-amyloid deposition and intracellular lipid concentration in animal models, two key pathogenic mechanisms underlying aging. We examined the association between serum leptin levels and AMD.

Methods: We conducted a population-based case-control study including Chinese and Indian adults aged 40 to 80 years who participated in the Singapore Epidemiology of Eye Diseases Study (2007-2011).