Genetic Eye Diseases That Cause Blindness

Genetic and rare diseases information center gard po box 8126 gaithersburg md 20898 8126 toll free. This is a diagram for the autosomal dominant disease aniridia there are more than 350 hereditary eye diseases such as albinism aniridia colorblindness corneal dystrophies glaucoma keratoconus leber congenital amaurosis night blindness retinitis pigmentosa and retinoblastoma to name just a few. For example retinitis pigmentosa can cause tunnel vision in which only a tiny window of central vision remains.

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Rod and cone photoreceptors in the retina convert light into electrical signals that the brain interprets as vision.

Genetic eye diseases that cause blindness. The retina is a thin piece of tissue lining the back of the eye. Such patients might be able to read 20 20 size letters but would be legally blind because of the small visual field. For language access assistance contact the ncats public information officer.

Glaucoma glaucoma belongs to a group of eye diseases which result in progressively damaging the optic nerve the central pathway connecting your eyes to your brain. Rare genetic diseases affecting the retina can also cause legal blindness. Mutation in the genes causes achromatopsia in people.

X linked retinoschisis xlrs is an inherited disease that causes loss of central and peripheral vision due to degeneration of the retina. This write up is meant to elaborate on major genetic eye disorders their causes how genes play a part in their propagation and if there s a viable treatment option. Results from genetic testing will lead to an accurate diagnosis.

More than 60 percent of cases of blindness among infants are caused by inherited eye diseases such as congenital present at birth cataracts congenital glaucoma retinal degeneration optic atrophy and eye malformations. On the other hand the cone cells help us to see during the day recognize different colours and reading. No doubt almost all eye diseases are curable but if diagnosed early.

Genetic factors play a role in many kinds of eye disease including those diseases that are the leading cause of blindness among infants children and adults. This inherited rare eye disease causes colour blindness including different eye problems. Blindness can be sudden but mostly it is a gradual process.

Many times the exact type of ird a person has can be difficult to determine based only on tests conducted in the eye doctor s office. Otherwise it can lead to irreversible vision loss or blindness. Due to chronic eye diseases optic nerve continually being damaged and retinal cells being destroyed.

The rod cells help us to see at night and have nothing to do with colour recognition. If you have problems viewing pdf files download the latest version of adobe reader. Identifying the genetic cause of disease is an important part of care for patients with irds.

Eye diseases that cause blindness.

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