Basement membranes (BMs) are highly specialised extracellular matrix (ECM) structures
that within the heart underlie endothelial cells (ECs) and surround cardiomyocytes and …

Rhegmatogenous retinal detachment (RRD) is a sight threatening condition that warrants
immediate surgical intervention. To date, 29 genes have been associated with monogenic …

Purpose: The purpose of this study was to evaluate the epidemiology, etiology, clinical
assessment, investigation, management, and visual consequences of high myopia (≤− 6 …

High myopia [refractive error≤− 6 diopters (D)] is a heterogeneous condition, and without
clear accompanying features, it can be difficult to pinpoint a genetic cause. This …

Importance High myopia (HM) is one of the leading causes of visual impairment worldwide.
Genetic factors are known to play an important role in the development of HM. Objective To …

Importance Mutations in genes traditionally associated with syndromic retinal disease are
increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations …

In this study, we investigated medically or surgically actionable genes in inherited eye
disease, based on clinical phenotype and genomic data. This retrospective consecutive …

OBJECTIVE In this study, the authors retrospectively reviewed two cohorts of patients with
occipital encephalocele (OE) and demonstrate the technical aspects of an innovative and …

Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the
degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30 …

Purpose Familial exudative vitreoretinopathy (FEVR) is a rare finding in patients with genetic
forms of microcephaly. This study documents the detailed phenotype and expands the range …