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 …

Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and children. The scope of this review is to familiarise clinicians and scientists …

Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are
characterised by bilateral symmetrical central visual loss. Advances in genetic testing over …

Stargardt disease (STGD1) and ABCA4 retinopathies (ABCA4R) are caused by pathogenic
variants in the ABCA4 gene inherited in an autosomal recessive manner. The gene encodes …

There is an emblematic clinical and genetic heterogeneity associated with inherited retinal
diseases (IRDs). The most common form is retinitis pigmentosa (RP), a rod-cone dystrophy …

Background Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy due to
mutations in ABCA4, characterized by subretinal deposition of lipofuscin-like substances …

Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy, characterised by
bilateral progressive central vision loss and subretinal deposition of lipofuscin‐like …

The dark-adapted human electroretinogram (ERG) response to a standard bright flash
includes a negative-going a-wave followed by a positive-going b-wave that crosses the …

Stargardt macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most
prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused …

Purpose To determine the reliability and repeatability of quantitative evaluation of areas of
decreased autofluorescence (DAF) from fundus autofluorescence (FAF) images and track …