Novel Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract.

Congenital cataract (CC), the most prevalent cause of childhood blindness and amblyopia, necessitates prompt and precise genetic diagnosis. The objective of this study is to identify the underlying genetic cause in a Swiss patient with isolated CC. Whole exome sequencing (WES) and copy number variation (CNV) analysis were conducted for variant identification in a patient born with a total binocular CC without a family history of CC.

A Simple Step-by-Step Guide to Permanent Punctal Occlusion with the Ophthalmic Burr and Suture Technique.

The medical treatment of dry eye disease usually follows a step-wise approach to achieve clinical improvement, ranging from non-surgical interventions with intensive lubrication to permanent surgical punctal occlusion. While frequent lubrication is essential, the intense regime is often too burdensome and difficult to maintain at the required frequency. Punctal plugs are an invaluable alternative approach, but also have limitations, especially in conscious children, in whom inserting and re-inserting punctum plugs in clinic can be challenging.

[Proteome analysis of undiluted vitreous humor in patients with branch retinal vein occlusion].

Background: The pathophysiological mechanisms of macular edema secondary to branch retinal vein occlusion (BRVO) remain unclear.

Objectives: To analyze the protein profile of human vitreous of patients with BRVO and to identify specific dysregulated proteins.

Materials And Methods: Undiluted vitreous humor samples from patients with treatment naïve BRVO and 15 controls with idiopathic floaters were analyzed in this clinical-experimental study using capillary electrophoresis coupled to a mass spectrometer (CE-MS) and tandem mass spectrometry (MS/MS).

LYSOPHOSPHATIDIC ACIDS AND AUTOTAXIN IN RETINAL VEIN OCCLUSION.

Purpose: To analyze the levels of lysophosphatidic acids (LPAs) and autotaxin (ATX) in undiluted vitreous of untreated patients with retinal vein occlusion (RVO).

Methods: Sixty-four vitreous samples (40 RVO, 24 controls with idiopathic floaters) were analyzed in this retrospective case series using LC/MS for LPAs 16:0, 18:0, 18:1, 20:4, and ELISA kits or Luminex technology for ATX, angiopoetin-1 (ANG-1), interleukin-6 (IL-6), interleukin-7 (IL-7), interleukin-8 (IL-8), monocyte chemoattractant protein-1 (MCP-1), pigment epithelium-derived factor (PEDF), and vascular endothelial growth factor (VEGF). LPA and ATX levels were correlated with the visual acuity, central macular thickness (CMT), average retinal thickness (AvT), vitreal cytokine levels and with each other.

Proteomic Analysis of Vitreous Humor in Retinal Vein Occlusion.

Purpose: To analyze the protein profile of human vitreous of untreated patients with retinal vein occlusion (RVO).

Methods: Sixty-eight vitreous humor (VH) samples (44 from patients with treatment naïve RVO, 24 controls with idiopathic floaters) were analyzed in this clinical-experimental study using capillary electrophoresis coupled to mass spectrometer and tandem mass spectrometry. To define potential candidate protein markers of RVO, proteomic analysis was performed on RVO patients (n = 30) and compared with controls (n = 16).