# Challenges and opportunities for modeling monogenic and complex disorders of the human retina via induced pluripotent stem cell technology

**Authors:** Karolina Plössl, Andrea Milenkovic, Bernhard H. F. Weber

PMC · DOI: 10.1515/medgen-2021-2092 · Medizinische Genetik · 2021-12-03

## TL;DR

This paper discusses how stem cell technology can help model human retinal diseases, offering new ways to study and treat these conditions.

## Contribution

The paper explores the potential of induced pluripotent stem cells to model retinal disorders in a patient-specific manner.

## Key findings

- Induced pluripotent stem cells can generate retinal models that reflect human pathologies.
- These models allow for individualized study of disease mechanisms and treatment testing.

## Abstract

The human retina is a highly structured and complex neurosensory tissue central to perceiving and processing visual signals. In a healthy individual, the close interplay between the neuronal retina, the adjacent retinal pigment epithelium and the underlying blood supply, the choriocapillaris, is critical for maintaining eyesight over a lifetime. An impairment of this delicate and metabolically highly active system, caused by genetic alteration, environmental impact or both, results in a multitude of pathological phenotypes of the retina. Understanding and treating these disease processes are motivated by a marked medical need in young as well as in older patients. While naturally occurring or gene-manipulated animal models have been used successfully in ophthalmological research for many years, recent advances in induced pluripotent stem cell technology have opened up new avenues to generate patient-derived retinal model systems. Here, we explore to what extent these cellular models can be useful to mirror human pathologies in vitro ultimately allowing to analyze disease mechanisms and testing treatment options in the cell type of interest on an individual patient-specific genetic background.

## Linked entities

- **Species:** Homo sapiens (taxon 9606)

## Full-text entities

- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

7 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11007631/full.md

## References

46 references — full list in the complete paper: https://tomesphere.com/paper/PMC11007631/full.md

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Source: https://tomesphere.com/paper/PMC11007631