A Novel Mutation in the Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart.

Weill-Marchesani syndrome (WMS) is a rare genetic inherited disorder with autosomal recessive and dominant modes of inheritance. WMS is characterized by the association of short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia and ectopia of the lenses, and, occasionally, heart defects. We investigated the genetic cause of a unique and novel presentation of heart-developed membranes in the supra-pulmonic, supramitral, and subaortic areas, creating stenosis that recurred after their surgical resection in four patients from one extended consanguineous family.

Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes.

Congenital insensitivity to pain (CIP) is a group of rare genetic disorders with a common characteristic of absent sensation to nociceptive pain. Here we present a series of six patients; three had a novel variant in the PRDM12 gene (group A), and three had a missense variant in the SCN9A gene (group B). We compared the ocular manifestations between the two groups.

Ocular manifestations of congenital insensitivity to pain: a long-term follow-up.

Aim: To describe ocular manifestations in children with congenital insensitivity to pain with and without anhidrosis (CIPA and CIP).

Methods: We reviewed records of eye examinations of 39 children diagnosed with CIPA or CIP. We collected clinical data, with particular attention to ocular surface findings.

Intraocular lens implantation as an isolated risk factor for secondary glaucoma in pediatric patients.

Objective: To evaluate the effect of intraocular lens (IOL) implantation on the development of secondary glaucoma after cataract surgery in pediatric patients.

Design: Retrospective case series study.

Methods: This study reviewed the medical records of children under 16 years of age who had undergone cataract surgery from 1996 to 2016 for congenital or developmental cataract.

Measuring recovery of visual function in children with papilledema using sweep visual evoked potentials.

Purpose: To assess visual function in children with papilledema using sweep visual evoked potentials (VEP) to determine whether vision function improved following treatment.

Methods: Contrast sensitivity and grating acuity were prospectively measured by using sweep visual evoked potential testing in children with mild or moderate acute papilledema. A subset of children were tested longitudinally before and after treatment.