Foveal congenital hypertrophy of the retinal pigment epithelium in the setting of geographic atrophy from age-related macular degeneration

2003 ◽  
Vol 135 (1) ◽  
pp. 120-121 ◽  
Author(s):  
Rajendra S. Apte ◽  
Neil M. Bressler
2019 ◽  
Vol 55 (2) ◽  
pp. 121-132
Author(s):  
Tea Čaljkušić-Mance ◽  
Ivan Brumini ◽  
Renata Gržetić-Lenac ◽  
Tamara Mišljenović-Vučerić ◽  
Zvjezdana Alpeza-Dunato

Senilna makularna degeneracija (engl. age-related macular degeneration; AMD) jedan je od najvažnijih uzroka gubitka centralnog vida kod starije populacije. Dijelimo je na „vlažnu” i „suhu” formu, ovisno o prisutnosti koroidne neovaskularizacije (engl. choroidal neovascularization; CNV). Do sada nijedna terapija nije potvrđena i odobrena za liječenje geografske atrofije (engl. geographic atrophy; GA), najtežeg oblika „suhog” AMD-a, jer nije bilo moguće popraviti oštećenja retinalnog pigmentnog epitela (engl. retinal pigment epithelium; RPE) i fotoreceptora. Liječenje se svodilo na pokušaje zaustavljanja progresije oboljenja i širenja geografske atrofije. Namjera ovog članka je prikazati podatke novijih dovršenih i tekućih kliničkih ispitivanja s naglaskom na mjesto djelovanja potencijalnih lijekova. Danas su nam dostupne brojne nove dijagnostičke metode koje nam omogućavaju bolje praćenje morfoloških promjena mrežnice, RPE-a i žilnice, kao i širenja područja atrofije. Oksidativni stres, kronična upala, insuficijentni koroidalni protok krvi te depoziti lipofuscina za koje se pretpostavlja da bi imali važniju ulogu u razvoju bolesti predstavljaju potencijalne mete za djelovanje lijekova. Velik je broj tekućih studija koje istražuju moguća rješenja, kao što su protuupalni i neuroprotektivni lijekovi te matične stanice, dok će samo neki od lijekova biti dostupni na tržištu i pružiti nadu pacijentima za očuvanje centralnog vida, pa ih je potrebno dugoročno pratiti. Uključiti treba i tretman ispodpražnim i mikropulsnim laserom koji je kod nekih oboljenja mrežnice pokazao određene rezultate u revitalizaciji tkiva, a koji koristimo i na našoj Klinici, te su prvi kratkoročni rezultati skromni ali ohrabrujući i zahtijevaju daljnje tretmane i praćenje.


2021 ◽  
Author(s):  
Anne Senabouth ◽  
Maciej Daniszewski ◽  
Grace Lidgerwood ◽  
Helena Liang ◽  
Damian Hernandez ◽  
...  

Induced pluripotent stem cells generated from patients with geographic atrophy as well as healthy individuals were differentiated to retinal pigment epithelium (RPE) cells. By integrating transcriptional profiles of 127,659 RPE cells generated from 43 individuals with geographic atrophy and 36 controls with genotype data, we identified 439 expression Quantitative Trait (eQTL) loci in cis that were associated with disease status and specific to subpopulations of RPE cells. We identified loci linked to two genes with known associations with geographic atrophy - PILRB and PRPH2, in addition to 43 genes with significant genotype x disease interactions that are candidates for novel genetic associations for geographic atrophy. On a transcriptome-only level, we identified molecular pathways significantly upregulated in geographic atrophy-RPE including in extracellular cellular matrix reorganisation, neurodegeneration, and mitochondrial functions. We subsequently implemented a large-scale proteomics analysis, confirming modification in proteins associated with these pathways. We also identified six significant protein (p) QTL that regulate protein expression in the RPE cells and in geographic atrophy - two of which share variants with cis-eQTL. Transcriptome-wide association analysis identified genes at loci previously associated with age-related macular degeneration. Further analysis conditional on disease status, implicated statistically significant RPE-specific eQTL. This study uncovers important differences in RPE homeostasis associated with geographic atrophy.


2016 ◽  
Vol 8 ◽  
pp. OED.S38863 ◽  
Author(s):  
Ryan Enslow ◽  
Sai Bhuvanagiri ◽  
Sravanthi Vegunta ◽  
Benjamin Cutler ◽  
Michael Neff ◽  
...  

Age-related macular degeneration (AMD) is one of the leading causes of blindness in developed countries in people over the age of 60 years. One of the forms of advanced AMD is wet AMD. Wet AMD is a result of leakage and bleeding from abnormal neovascularization. The principal treatment for wet AMD is intravitreal anti-VEGF injections. A second form of advanced AMD is geographic atrophy (GA). GA refers to large areas of retinal pigment epithelium loss. In the literature, there is some concern that anti-VEGF injections administered to treat wet AMD may be associated with progression of GA. This review discusses evidence suggesting the association of anti-VEGF injections with progression of GA.


Retina ◽  
2016 ◽  
Vol 36 ◽  
pp. S12-S25 ◽  
Author(s):  
Emma C. Zanzottera ◽  
Thomas Ach ◽  
Carrie Huisingh ◽  
Jeffrey D. Messinger ◽  
Richard F. Spaide ◽  
...  

2021 ◽  
Vol 22 (16) ◽  
pp. 8387
Author(s):  
Alexa Klettner ◽  
Johann Roider

(1) Background: Inflammation is a major pathomechanism in the development and progression of age-related macular degeneration (AMD). The retinal pigment epithelium (RPE) may contribute to retinal inflammation via activation of its Toll-like receptors (TLR). TLR are pattern recognition receptors that detect the pathogen- or danger-associated molecular pattern. The involvement of TLR activation in AMD is so far not understood. (2) Methods: We performed a systematic literature research, consulting the National Library of Medicine (PubMed). (3) Results: We identified 106 studies, of which 54 were included in this review. Based on these studies, the current status of TLR in AMD, the effects of TLR in RPE activation and of the interaction of TLR activated RPE with monocytic cells are given, and the potential of TLR activation in RPE as part of the AMD development is discussed. (4) Conclusion: The activation of TLR2, -3, and -4 induces a profound pro-inflammatory response in the RPE that may contribute to (long-term) inflammation by induction of pro-inflammatory cytokines, reducing RPE function and causing RPE cell degeneration, thereby potentially constantly providing new TLR ligands, which could perpetuate and, in the long run, exacerbate the inflammatory response, which may contribute to AMD development. Furthermore, the combined activation of RPE and microglia may exacerbate neurotoxic effects.


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