Losing sight and vision How does the eye

Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant

Seeing What can we see?

How many tints do you see? 1 2 3 4 4 2 1 4 5 5 4 6

Spiral or separate circles?

How does the eye work?

Cone and rod cells

Bar and rod cells Test: • Keep the paper strip close to your eyes. With the orange dot in the middle Look with both eyes at the orange dot. • Close your right eye. Now look with your left eye at the red dot. • Move the paper strip slowly away from you. Keep looking with your left eye at the red dot! • What do you see? The middle dot appears on a given in your view. But now it is grey! Only when you the paperstrip further away it suddenly flashes on orange. ?

Zooming in From organism to molecule The shape and function of proteins are responsible for the function of organels and cells. The cells determine how the tissue works, DNA is the blueprint of how the organ functions and ultimately how a protein. the entire organism is alive. In (almost) every cell DNA is located

Practical Retinitis Pigmentosa RP is an eye disease in which the cone cells (the cells that display contrast) are damaged. Most RP-patients complain about night blindness which can transcend into total blindness. Bron: erfelijkheid. nl

What are we going to do? Lets get to work! • Log in on the computer. • Go to this website: www. bioinformaticaindeklas. nl/lesmateriaal/rp/rp. html • Click on ‘Start practical’ in the menu • Follow the instructions on the screen • Write down your answers on the answersheet.

Functioning of the eye Sight! Retinal is activated by light. Active retinal procedes a signal to the brain

Functioning of the eye sight! Due to some mutations in rhodopsine, retinal does not have enough space to bend. Therefore no signal can be transferred to the brain

Retinal in rhodopsine

Retinal in rhodopsine This is the inactive retinal. During activation of retinal the molecule becomes straight. The helices alter their conformation by bending slightly

Mutations in rhodopsine: Ser 186 Pro, Ala 292 Glu en Lys 296 Glu 292 296 186

Mutations in rhodopsine: Met 207 Arg

Conclusion Is it still possible to activate retinal? Does the unborn child have Retinitis Pigmentosa?

Statement Retinitis Pigmentosa becomes really disturbingwhen you turn older (35+). Do you want to know in this stage your life if you are a carrier of this disease? And how about knowing susceptibility for cancer?