Glossary of Symptoms
*This page will be updated to include all symptoms reported for Lowe Syndrome.
|
OCULAR |
Symptom |
Definition |
Levels |
Reference |
Cataracts / Lens Opacities |
A cataract is a clouding of the lens in the eye that affects vision |
|
NIH - National Eye Institute |
|
Glaucoma / Increased Intraocular Pressure |
Glaucoma is a group of diseases that damage the eye’s optic nerve and can result in vision loss and blindness. Increased intraocular pressure is a common risk factor of glaucoma. |
Normal eye pressure ranges from 12-22 mm Hg, and the eye pressure of greater than 22 mm Hg is considered higher than normal (Glaucoma Research Foundation). |
NIH - National Eye Institute |
|
Deep Set |
Deep-set eyes are far back in the bones of the face. |
|
Cambridge Dictionary |
|
Nystagmus |
Nystagmus is a condition where the eyes move rapidly and uncontrollably. |
|
American Academy of Ophthalmology |
|
Strabismus |
Strabismus is a visual problem in which the eyes are not aligned properly and point in different directions. |
|
American Academy of Ophthalmology |
|
Microphthalmos |
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. |
|
NIH - Genetics Home Reference |
|
Aphakia |
Aphakia is a condition that involves not having an eye lens. |
|
Healthline |
|
Choroidal Detachment |
The choroid is normally directly next to the sclera, but can be displaced by fluid or blood, leading to a choroidal detachment (separation). |
|
American Society of Retinal Specialists |
|
Retinal Hemorrhages |
Retinal hemorrhage is bleeding from the blood vessels in the retina, inside your eye. |
|
Drugs.com |
|
Visual Impairment |
A visual impairment is any visual condition. |
|
Project IDEAL |