Please enable JavaScript.
Coggle requires JavaScript to display documents.
Congenital abnormalities of the eye - Coggle Diagram
Congenital abnormalities of the eye
Congenital cataract
Definition
A congenital cataract is a clouding of the lens of the eye that is present at birth. The lens of the eye is normally clear. It focuses light that comes into the eye onto the retina.
Causes
Chondrodysplasia syndrome
Down syndrome (trisomy 21)
Familial congenital cataracts
Symptoms
An infant does not seem to be visually aware of the world around them (if cataracts are in both eyes)
Gray or white cloudiness of the pupil (which is normally black)
The "red eye" glow of the pupil is missing in photos, or is different between the 2 eyes
Unusual rapid eye movements (nystagmus)
Diagnosis
Blood tests or exams
Treatment
treated with cataract removal surgery.
Prevention
If you have a family history of inheritable disorders that could cause congenital cataracts, consider seeking genetic counseling.
Aniridia
Definition
an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris)
Causes
The disorder is caused by mutations in the PAX6 gene, which plays a critical role in the formation of tissues and organs during embryonic development
Inherent
Symptoms
Underdevelopment of the iris
Photophobia
lack limbal stem cells of the conjunctiva.
Glaucoma
Show signs of nystagmus
Diagnosis
Physical examination
Full eye exam
Treatment
Low vision devices, along with rehabilitation services and training, can be extremely helpful for some individuals with aniridia
Sunglasses can also be worn to help with the symptoms of photophobia.
specific artificial tear for maximum lubrication.
stem cell transplantation to replace missing stem cells can improve the function of the cornea.
Definition
Present abnormalities from birth