Purpose To report retinitis pigmentosa and a history of polydactyly in a Bardet–Biedl
syndrome mutation carrier. Observations A 25-year-old male presented to the clinic …

Mutations in the crumbs homolog (CRB) 1 gene are among the common causes of severe
early onset retinal dystrophy. Some characteristic clinical phenotypes are frequently …

Purpose The purpose of this study is to determine the effect of Cytoglobin (Cygb) deficiency
on Crb1-related retinopathy. The Crb1 cell polarity complex is required for photoreceptor …

Background S-adenosylhomocysteine hydrolase deficiency due to pathologic variants in
AHCY gene is a rare neurometabolic disease for which no eye phenotype has been …

Cystic maculopathy has been associated with genetic disorders such as retinitis
pigmentosa, X-linked retinoschisis, cone dystrophy, and foveal retinoschisis. Familial foveal …

CRB1 gene therap coming of age: mechanistic insight and rAAV assa s on mouse & human
retinal organoid models CRB1 gene therap coming of age: mechanistic insight and rAAV assa …

Bereits 1869 beschrieb Theodor Leber einen Fall von Retinitis pigmentosa und
angeborener Amaurose [22]. Seit dieser Zeit werden unter dem Krankheitsbild der …

Leber congenital amaurosis (LCA) is a group of severe autosomal recessive retinal
dystrophies defined by the onset of blindness at birth and absent electroretinographic …

Klinische Charakterisierung von Patienten mit Mutationen in LCA-assoziierten Genen
Hintergrund: Lebersche kongenitale Amaurose (LCA) bezeichnet die schwerste und …

Le Syndrome de Cohen (SC)(OMIM 216550) est une maladie autosomique récessive rare
due à des variations dans le gène codant pour la protéine de tri vacuolaire 13B (VPS13B ou …