Alport syndrome is a serious genetic disorder, which leads to kidney disease, hearing loss, and eye abnormalities. It is caused by mutations in genes encoding for type 4 collagen, a protein that is crucial to maintaining the normal structure of tissues in the eyes, kidneys, and inner ears.
For most Alport syndrome patients, eye abnormalities are diagnosed in middle age or later, long after kidney problems have already developed. However, there is at least one reported case in which eye abnormalities were diagnosed prior to any kidney symptoms.
Eye abnormalities in Alport Syndrome
There are several types of eye abnormalities that can develop in Alport syndrome. Patients may have one or more:
A dilated eye exam allows the retina to be visualized. The retina is the portion of the back of the eye that receives light and transforms it into an electrical signal, which is sent, via the optic nerve, to the brain. In dot-and-fleck retinopathy, yellow or whitish “flecks” or dots of pigment are visible on the retina. Usually, this condition does not affect vision, but it becomes more severe as kidney function deteriorates. About 85 percent of men with Alport syndrome develop dot-and-fleck retinopathy.
Anterior lenticonus (AL)
AL is an alteration in the shape of the lens of the eye. It is not present at birth in Alport syndrome patients, but is usually detected when patients need frequent prescription lens changes. Nearly all patients with AL have Alport syndrome, so it can be a valuable diagnostic tool. About 15 percent of patients with X-linked or autosomal recessive Alport syndrome have AL. The treatment is lens replacement, as in cataract surgery. The artificial lens is a permanent cure for AL.
Recurrent corneal abrasion
A corneal abrasion is caused when the tissue that covers the cornea fails to attach to the underlying structure. This causes eye itchiness, light sensitivity, blurred vision, and tears. This condition does not usually affect vision, but can be treated by wearing protective lenses, avoiding rubbing the eyes, and using eye drops to keep the eyes lubricated.
A macular hole is a tear in the retina, which causes blurred and distorted vision, especially in the center of the field of vision. Less than 5 percent of Alport syndrome patients develop a macular hole. Macular holes can sometimes be treated with a surgery called a vitrectomy, which can improve vision and prevent more serious problems, such as retinal detachment.
Some patients feel that their myopia might be a result of Alport syndrome, but since so many people have myopia, it is difficult to count it as a symptom. Myopia can usually be treated by corrective lenses.
Vision tests for eye abnormalities
Patients should inform their eye doctors of their Alport syndrome diagnosis so that they can be tested for eye abnormalities with a dilated eye exam. AL and corneal abrasions should be observable through a slit-lamp examination. Macular holes can be detected with optical coherence tomography.
Some patients with Alport syndrome never develop eye problems. However, in severe cases, eye abnormalities can affect patients’ lives, making it difficult to see, especially at night. Driving may be difficult for Alport syndrome patients with eye abnormalities.
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