The ABCA4 protein (then called a “rim protein”) was first identified in 1978 in the rims and
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …

X-linked retinopathies represent a significant proportion of monogenic retinal disease. They
include progressive and stationary conditions, with and without syndromic features. Many …

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of
photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical …

Cone-rod dystrophies (CORDs) are a heterogeneous group of inherited retinopathies (IRDs)
with more than 30 already known disease-causing genes. Uncertain phenotypes and …

Eg5, the product of Kif11 gene, also known as kinesin spindle protein, is a motor protein
involved in the proper establishment of a bipolar mitotic spindle. Eg5 is one of the 45 …

Degenerative retinal disorders are a diverse family of diseases commonly leading to
irreversible photoreceptor death, while leaving the inner retina relatively intact. Over recent …

PURPOSE To analyze the clinical characteristics, natural history, and genetics of CRB1-
associated retinal dystrophies. DESIGN Multicenter international retrospective cohort study …

Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal
dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next …

Despite being the most prevalent cause of inherited blindness in children, Stargardt disease
is yet to achieve the same clinical trial success as has been achieved for other inherited …

The recent approval in the United States of the first adeno-associated viral (AAV) vector for
the treatment of an inherited retinal degeneration validates this approach for the treatment of …