Inherited multifocal RPE-diseases: Mechanisms for local dysfunction in global retinoid cycle gene defects

Dorothea Besch; Herbert Jägle; Hendrik P.N. Scholl; Mathias W. Seeliger; Eberhart Zrenner

doi:10.1016/j.visres.2003.09.020

Inherited multifocal RPE-diseases: Mechanisms for local dysfunction in global retinoid cycle gene defects

Dorothea Besch, Herbert Jägle, Hendrik P.N. Scholl, Mathias W. Seeliger, Eberhart Zrenner

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

Abstract

Alterations of retinoid cycle genes are known to cause retinal diseases characterized by focal white dot fundus lesions. Fundus appearances reveal circumscribed RPE-changes, although generalized metabolic defects and global functional abnormalities are present. As a possible explanation, topographic inhomogeneities of the human photoreceptor mosaic and the role of a cone specific visual cycle will be discussed. Due to particular characteristics of photoreceptor subtypes as well as different pathways for photopigment regeneration the metabolic demand of individual RPE cells might differ. In "flecked retina diseases" heterogeneity of metabolic demand in individual RPE cells could therefore be responsible for their multifocal appearance.

Original language	English (US)
Pages (from-to)	3095-3108
Number of pages	14
Journal	Vision Research
Volume	43
Issue number	28
DOIs	https://doi.org/10.1016/j.visres.2003.09.020
State	Published - Dec 2003
Externally published	Yes

Keywords

Gene
Retinal disease
Retinal pigment epithelium
Retinoid
Visual cycle

ASJC Scopus subject areas

Ophthalmology
Sensory Systems

Access to Document

10.1016/j.visres.2003.09.020

Cite this

@article{2074a82eb2704056a545b711d5604fb4,

title = "Inherited multifocal RPE-diseases: Mechanisms for local dysfunction in global retinoid cycle gene defects",

abstract = "Alterations of retinoid cycle genes are known to cause retinal diseases characterized by focal white dot fundus lesions. Fundus appearances reveal circumscribed RPE-changes, although generalized metabolic defects and global functional abnormalities are present. As a possible explanation, topographic inhomogeneities of the human photoreceptor mosaic and the role of a cone specific visual cycle will be discussed. Due to particular characteristics of photoreceptor subtypes as well as different pathways for photopigment regeneration the metabolic demand of individual RPE cells might differ. In {"}flecked retina diseases{"} heterogeneity of metabolic demand in individual RPE cells could therefore be responsible for their multifocal appearance.",

keywords = "Gene, Retinal disease, Retinal pigment epithelium, Retinoid, Visual cycle",

author = "Dorothea Besch and Herbert J{\"a}gle and Scholl, {Hendrik P.N.} and Seeliger, {Mathias W.} and Eberhart Zrenner",

year = "2003",

month = dec,

doi = "10.1016/j.visres.2003.09.020",

language = "English (US)",

volume = "43",

pages = "3095--3108",

journal = "Vision Research",

issn = "0042-6989",

publisher = "Elsevier Limited",

number = "28",

}

TY - JOUR

T1 - Inherited multifocal RPE-diseases

T2 - Mechanisms for local dysfunction in global retinoid cycle gene defects

AU - Besch, Dorothea

AU - Jägle, Herbert

AU - Scholl, Hendrik P.N.

AU - Seeliger, Mathias W.

AU - Zrenner, Eberhart

PY - 2003/12

Y1 - 2003/12

N2 - Alterations of retinoid cycle genes are known to cause retinal diseases characterized by focal white dot fundus lesions. Fundus appearances reveal circumscribed RPE-changes, although generalized metabolic defects and global functional abnormalities are present. As a possible explanation, topographic inhomogeneities of the human photoreceptor mosaic and the role of a cone specific visual cycle will be discussed. Due to particular characteristics of photoreceptor subtypes as well as different pathways for photopigment regeneration the metabolic demand of individual RPE cells might differ. In "flecked retina diseases" heterogeneity of metabolic demand in individual RPE cells could therefore be responsible for their multifocal appearance.

AB - Alterations of retinoid cycle genes are known to cause retinal diseases characterized by focal white dot fundus lesions. Fundus appearances reveal circumscribed RPE-changes, although generalized metabolic defects and global functional abnormalities are present. As a possible explanation, topographic inhomogeneities of the human photoreceptor mosaic and the role of a cone specific visual cycle will be discussed. Due to particular characteristics of photoreceptor subtypes as well as different pathways for photopigment regeneration the metabolic demand of individual RPE cells might differ. In "flecked retina diseases" heterogeneity of metabolic demand in individual RPE cells could therefore be responsible for their multifocal appearance.

KW - Gene

KW - Retinal disease

KW - Retinal pigment epithelium

KW - Retinoid

KW - Visual cycle

UR - http://www.scopus.com/inward/record.url?scp=0242662606&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0242662606&partnerID=8YFLogxK

U2 - 10.1016/j.visres.2003.09.020

DO - 10.1016/j.visres.2003.09.020

M3 - Article

C2 - 14611947

AN - SCOPUS:0242662606

SN - 0042-6989

VL - 43

SP - 3095

EP - 3108

JO - Vision Research

JF - Vision Research

IS - 28

ER -

Inherited multifocal RPE-diseases: Mechanisms for local dysfunction in global retinoid cycle gene defects

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this