Absorption of light by rhodopsin or cone pigments in photoreceptors triggers
photoisomerization of their universal chromophore, 11-cis-retinal, to all-trans-retinal. This …

ATP-binding cassette transporters (ABC transporters) utilize the energy of ATP hydrolysis to
translocate an unusually diverse set of substrates across cellular membranes. ABCA4, also …

ABCA4 is a member of the ABCA subfamily of ATP binding cassette (ABC) transporters that
is expressed in rod and cone photoreceptors of the vertebrate retina. ABCA4, also known as …

Stargardt disease is a common inherited macular degeneration characterized by a
significant loss in central vision in the first or second decade of life, bilateral atrophic …

ABCA4, also known as ABCR or the rim protein, is a member of the ABCA subfamily of ATP
binding cassette (ABC) transporters expressed in vertebrate rod and cone photoreceptor …

Purpose To describe the phenotypic presentation of a cohort of individuals with homozygous
disease-associated ABCA4 variants. Design Retrospective case series. Participants …

Methods: Eighty-two patients harboring 15 distinct ABCA4 mutations in trans with null
(hemizygous), 10 homozygous, and 20 nullizygous patients were recruited. Age of onset …

Protozoan parasites are responsible for important diseases that threaten the lives of nearly
one-quarter of the human population world-wide. Among them, leishmaniasis has become …

Purpose.: We describe a particular form of autosomal recessive generalized choriocapillaris
dystrophy phenotype associated with ABCA4 mutations. Methods.: A cohort of 30 patients …

purpose. To evaluate photoreceptor cell–specific adenosine triphosphate (ATP)–binding
cassette transporter (ABCA4) gene mutations in Japanese patients with Stargardt disease …