The eye as a therapeutic model for genetic disease

Question 1

basic anatomy of eye

Answer 1

• sclera –> or white part of the eye, protects the eyeball.
• pupil –> black dot at the centre of the eye, is an opening through which light can enter the eye
• iris –> coloured part of the eye, surrounds the pupil. It controls how much light enters the eye by changing the size of the pupil
• cornea –> a clear window at the front of the eye, covers the iris and the pupil

A clear lens, located behind the pupil, acts like a camera lens by focusing light onto the retina at the back of the eye.
The retina is a light-sensitive inner lining at the back of the eye. Ten different layers of cells work together in the retina to detect light and turn it into electrical impulses.

Question 2

look at the anatomy of the eye image and optic pathway image

Answer 2

image look !

Question 3

What are the functions of the retinal pigment epithelium?

Answer 3

• light absorption
• epithel transport
• glia
• vascular cycle
• phagocytosis
• secretion

Question 4

blood-retina barrier
- make-up

Answer 4

The blood–retinal barrier (BRB) is composed of retinal capillary endothelial cells (inner BRB) and retinal pigment epithelial cells (outer BRB). The inner and outer BRB are equipped with a variety of transporters and receptors and regulate nutrient flux between the circulating blood and the retina.

Question 5

What is the basic structure and function of the retina?

Question 6

What ate in vitro and an in vivo models can be used to study retinal disorder?

Question 7

What is Gyrate Atrophy of the choroid and retina (GACR)?

Answer 7

• Extremely rare metabolic disorder
• Ornithine aminotransferase (OAT) deficiency
• Primarily affects vision

affects of OAT deficiency

Question 8

How can retinal models be used to study GACR?

Question 9

Steps from patient cell to stem retinal pigment epithelium (RPE) model?

Answer 9

1. patient donates blood cell/ skin
2. cells transformed to iPSCs
3. differentiate towards RPE cells/retinal organoids

Question 10

Steps from patient cell to retinal organoid model

Answer 10

1. patient donates blood cell/ skin
2. cells transformed to iPSCs
3. differentiation towards retinal organoid
4. healthy mature retinal organoids

Question 11

What are the 3 retinal models that can be used to study GACR?

Answer 11

1. retinal pigment epithelium (RPE) model
2. retinal organoid models
3. bio printed 3D models