[HTML][HTML] Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

FPM Cremers, W Lee, RWJ Collin… - Progress in retinal and eye …, 2020 - Elsevier
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 …

Exploring choroidal angioarchitecture in health and disease using choroidal vascularity index

R Agrawal, J Ding, P Sen, A Rousselot, A Chan… - Progress in retinal and …, 2020 - Elsevier
The choroid is one of the most vascularized structures of the human body and plays an
irreplaceable role in nourishing photoreceptors. As such, choroidal dysfunction is implicated …

The retinal pigment epithelium in visual function

O Strauss - Physiological reviews, 2005 - journals.physiology.org
Located between vessels of the choriocapillaris and light-sensitive outer segments of the
photoreceptors, the retinal pigment epithelium (RPE) closely interacts with photoreceptors in …

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

R Allikmets, N Singh, H Sun, NF Shroyer… - Nature …, 1997 - nature.com
Stargardt disease (STGD, also known as fundus flavimaculatus; FFM) is an autosomal
recessive retinal disorder characterized by a juvenile-onset macular dystrophy, alterations of …

The bisretinoids of retinal pigment epithelium

JR Sparrow, E Gregory-Roberts, K Yamamoto… - Progress in retinal and …, 2012 - Elsevier
The retina exhibits an inherent autofluorescence that is imaged ophthalmoscopically as
fundus autofluorescence. In clinical settings, fundus autofluorescence examination aids in …

A comparison of some organizational characteristics of the mouse central retina and the human macula

S Volland, J Esteve-Rudd, J Hoo, C Yee, DS Williams - PloS one, 2015 - journals.plos.org
Mouse models have greatly assisted our understanding of retinal degenerations. However,
the mouse retina does not have a macula, leading to the question of whether the mouse is a …

[HTML][HTML] Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

J Weng, NL Mata, SM Azarian, RT Tzekov, DG Birch… - Cell, 1999 - cell.com
Rim protein (RmP) is an ABC transporter of unknown function in rod outer segment discs.
The human gene for RmP (ABCR) is affected in several recessive retinal degenerations …

RPE lipofuscin and its role in retinal pathobiology

JR Sparrow, M Boulton - Experimental eye research, 2005 - Elsevier
Emerging evidence indicates that the autofluorescent pigments that accumulate as
lipofuscin in retinal pigment epithelial (RPE) cells may reach levels that contribute to a …

Distribution of fundus autofluorescence with a scanning laser ophthalmoscope.

A Von Rückmann, FW Fitzke, AC Bird - British Journal of …, 1995 - bjo.bmj.com
BACKGROUND--Variation of fluorescence derived from lipofuscin in the retinal pigment
epithelium has been recorded with age and in retinal diseases. Studies have been based …

Lipofuscin of the retinal pigment epithelium: a review

CJ Kennedy, PE Rakoczy, IJ Constable - Eye, 1995 - nature.com
Accumulation of lipofuscin is one of the most characteristic features of ageing observed in
retinal pigment epithelial (RPE) cells. The lipofuscin found in RPE cells differs from that of …