Labor congeniLeber Congenital Amaurosis (LCA)
- Introduction: it 'Congenital Congenital Retinal Dystrophies A group of conditions that result in severe vision loss at an early age. (By 1 year of age in most cases)
- symptoms: Nystagmus, inactive or almost absent pupillary reactions, severely reduced visual acuity, photophobia and high hyperopia.
- Event: It affects about one in 40,000 people.
- Reason: it Blindness is caused by a gene mutation that blocks a protein (CEP290), Which is important for vision.
- Effect: LCA affects the function of 'rods & cones' in the eye.
- 'Rods and cones' of the eye Retinal cells contain photoreceptors, Which convert light into images.
- 'Rods' are better at seeing black and white, And enhances night vision, and 'Cones are better at absorbing colours.
- Prevention: Genetic testing before pregnancy or prenatal testing can identify patients who are at risk of passing the condition to their offspring.