Purpose: Gene therapy actually seems to have promising results in the treatment of Leber
Congenital Amaurosis and some different inherited retinal diseases (IRDs); the primary goal …

The first steps of vision take place in the ciliary outer segment compartment of photoreceptor
cells. The protein composition of outer segments is uniquely suited to perform this function …

Retinal degeneration due to photoreceptor ciliary-related proteins dysfunction accounts for
more than 25% of all inherited retinal dystrophies. The cilium, being an evolutionarily …

Blindness in Bardet-Biedl syndrome (BBS) is caused by dysfunction and loss of
photoreceptor cells in the retina. BBS10, mutations of which account for approximately 21 …

Bardet-Biedl syndrome (BBS) is a multi-organ autosomal-recessive disorder caused by
mutations in at least 22 different genes. A constant feature is early-onset retinal …

PURPOSE: The purpose of this study was to develop a visually guided swim assay (VGSA)
for measuring vision in mouse retinal disease models comparable to the multi-luminance …

The Corsac fox (Vulpes corsac) is a species of fox distributed in the arid prairie regions of
Central and Northern Asia, with distinct adaptations to dry environments. Here, we applied …

Abstract Four European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-
ITHACA) have teamed up to establish a consensus statement and recommendations for …

The retinal features of Bardet–Biedl syndrome (BBS) are insufficiently characterized in Arab
populations. This retrospective study investigated the retinal features and genotypes of BBS …

Abstract Purpose Bardet-Biedl syndrome (BBS) is a rare multisystem ciliopathy. The aim of
this study was to describe the clinical and genetic features of a cohort of Chinese patients …