Inherited retinal degenerations (IRDs) encompass a large group of clinically and genetically
heterogeneous diseases that affect approximately 1 in 3000 people (> 2 million people …

Multicellular life relies on the presence of extracellular matrix to provide scaffolding for cells
and tissue compartments. To provide communication between cells and tissues, a multitude …

AEBP1 encodes the aortic carboxypeptidase-like protein (ACLP) that associates with
collagens in the extracellular matrix (ECM) and has several roles in development, tissue …

We aimed to unravel the molecular genetic basis of inherited retinal degeneration (IRD) in a
comprehensive cohort of patients diagnosed in the largest center for IRD in Germany. A …

Purpose To describe the natural course, phenotype, and genotype of patients with X-linked
retinoschisis (XLRS). Design Retrospective cohort study. Participants Three hundred forty …

The inherited macular dystrophies comprise a heterogeneous group of disorders
characterised by central visual loss and atrophy of the macula and underlying retinal …

▪ Abstract The past decade has witnessed extraordinary progress in retinal disease gene
identification, the analysis of animal and tissue culture models of disease processes, and the …

X-linked retinoschisis is the leading cause of macular degeneration in males and leads to
splitting within the inner retinal layers leading to visual deterioration. Many missense and …

purpose. To create and evaluate a mouse model of human X-linked juvenile retinoschisis
(XLRS) and then investigate whether supplementing with the retinoschisin protein by gene …

This article is the third and last in a series entitled The Finnish Disease Heritage I–III. All the
36 rare hereditary diseases belonging to this entity are described for clinical and molecular …