Alport syndrome always affects the kidneys, but it also causes some eye abnormalities in patients. Click here to view our eye abnormalities page, which includes an informative video Q&A and a listing of published research articles (with layman’s summaries).
These include abnormalities of the cornea, the lens and the retina. This is because kidney dysfunction in people with Alport syndrome is caused by a collagen defect in the basement membrane of the kidneys which can also be found in the ear, cornea, lens capsule and retina.
Eye issues are less common in females and are rare in children. Eye issues usually develop over time as the disease progresses. These eye abnormalities can sometimes be used to diagnose individuals with Alport syndrome.
It is important for individuals with Alport syndrome to have their eyes checked regularly by an ophthalmologist who is aware of the associated ocular (eye) features.
Below are the most common eye conditions associated with Alport syndrome.
Dot-and-fleck retinopathy
Sometimes referred to as “fleck retina”, this condition involves abnormal yellowish and/or whitish flecks or dots of pigment of the retina and does not typically result in any vision abnormalities. Dot-and-fleck retinopathy is uncommon in childhood but becomes apparent at the onset of kidney failure and worsens over time in relation to the deterioration of kidney function. All males with dot-and-fleck retinopathy should be tested for Alport syndrome since it occurs in 85% of affected adult males.
No treatment is necessary since this condition does not affect vision.
Anterior Lenticonus
This condition results in an abnormality in the shape of the lens of the eye. It is not present at birth but may be present in someone needing frequent changes to prescription lenses. Nearly everyone with anterior lenticonus has Alport syndrome, making it a helpful diagnostic symptom. It is estimated that 15% to 20% of patients with X-linked and autosomal recessive Alport syndrome have anterior lenticonus.
The treatment is to have the lens replaced with the same operation as for a cataract removal. This will correct the defect permanently.
Recurrent corneal abrasion
This condition occurs when tissue covering the cornea fails to attach to the underlying basement membrane. It results in repeated episodes of eye itchiness, redness, light sensitivity, blurred vision and tears. This condition is annoying but again does not usually affect vision, although it is useful to remind your ophthalmologist if you have Alport syndrome so that they make the connection.
The condition can often be managed by wearing protective lenses, avoiding rubbing the eyes, and keeping the eyes lubricated. Patients should seek medical evaluation of recurrent or severe episodes as some topical treatments are available.
Macular Hole
This is a rare complication found in individuals with Alport syndrome.
The eye is filled with a gel-like substance called vitreous that contains tiny fibers which attach to the retina. When the vitreous shrinks and pulls away from the retina, a tear or macular hole can allow natural eye fluids to escape causing blurred or distorted vision. The condition is fairly common among the general population as they age, but occurs earlier in life in patients affected by Alport syndrome. A macular hole affects fewer than 5% of patients.
This condition often requires an optical coherence tomography examination for its diagnosis. It affects central vision and can be treated sometimes to prevent more severe complication. In many cases, surgery called vitrectomy is performed to improve vision.
Other Conditions
Some people with shortsightedness (i.e., nearsightedness or myopia) feel it is a result of their Alport syndrome. Since 20% of the world’s population is short sighted anyway, this is not usually related to Alport syndrome, but patients with lenticonus will get myopia or shortsightedness. Corrective lenses can normally resolve most vision issues for this condition.
There are other very rare eye disorders that may be associated with Alport syndrome. Patients should tell their eye doctor about their condition so any incidental retinal finding might then be associated with this diagnosis.
Sources:
Alport syndrome. A review of the ocular manifestations.
Surgical Management of Anterior Lenticonus in a Patient with Alport syndrome
Anterior Lenticonus
Alport syndrome (Collagen IV-Related Nephropathies)
Alport syndrome Clinical Presentation
Corneal Erosions or Abrasions
Facts About Macular Hole
