Phenoty** and genoty** inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod …

M Georgiou, AG Robson, K Fu**ami… - Progress in retinal and …, 2024 - Elsevier
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and in children. The scope of this review is to familiarise clinicians and scientists …

[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 …

Next-generation stem cells—ushering in a new era of cell-based therapies

EA Kimbrel, R Lanza - Nature Reviews Drug Discovery, 2020 - nature.com
Naturally occurring stem cells isolated from humans have been used therapeutically for
decades. This has primarily involved the transplantation of primary cells such as …

Regenerative and restorative medicine for eye disease

RN Van Gelder, MF Chiang, MA Dyer, TN Greenwell… - Nature medicine, 2022 - nature.com
Causes of blindness differ across the globe; in higher-income countries, most blindness
results from the degeneration of specific classes of cells in the retina, including retinal …

Inherited retinal diseases: Therapeutics, clinical trials and end points—A review

M Georgiou, K Fu**ami… - Clinical & Experimental …, 2021 - Wiley Online Library
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of
disorders characterised by photoreceptor degeneration or dysfunction. These disorders …

[HTML][HTML] Mechanisms of photoreceptor death in retinitis pigmentosa

F Newton, R Megaw - Genes, 2020 - mdpi.com
Retinitis pigmentosa (RP) is the most common cause of inherited blindness and is
characterised by the progressive loss of retinal photoreceptors. However, RP is a highly …

Global trends in clinical trials involving pluripotent stem cells: a systematic multi-database analysis

J Deinsberger, D Reisinger, B Weber - NPJ Regenerative medicine, 2020 - nature.com
Pluripotent stem cells (PSCs) hold great potential for novel therapeutic approaches to
regenerate or replace functionally impaired tissues. Since the introduction of the induced …

[HTML][HTML] HLA-matched allogeneic iPS cells-derived RPE transplantation for macular degeneration

S Sugita, M Mandai, Y Hirami, S Takagi… - Journal of Clinical …, 2020 - mdpi.com
Immune attacks are key issues for cell transplantation. To assess the safety and the immune
reactions after iPS cells-derived retinal pigment epithelium (iPS-RPE) transplantation, we …

[HTML][HTML] Transplantation of photoreceptors into the degenerative retina: Current state and future perspectives

SJ Gasparini, S Llonch, O Borsch, M Ader - Progress in Retinal and Eye …, 2019 - Elsevier
The mammalian retina displays no intrinsic regenerative capacities, therefore retinal
degenerative diseases such as age-related macular degeneration (AMD) or retinitis …

[HTML][HTML] Fundus-controlled perimetry (microperimetry): application as outcome measure in clinical trials

M Pfau, JK Jolly, Z Wu, J Denniss, EM Lad… - Progress in retinal and …, 2021 - Elsevier
Fundus-controlled perimetry (FCP, also called 'microperimetry') allows for spatially-resolved
map** of visual sensitivity and measurement of fixation stability, both in clinical practice as …