Alport syndrome is a rare genetic condition that is caused by a defect in type 4 collagen, an integral part of the basement membrane that is found in the kidneys, eyes, and inner ears.
Many people with Alport syndrome develop eye abnormalities during middle age or later. These abnormalities usually affect the retina (the light-sensitive tissue that lines the inside of the eye), the lens, and the cornea (the clear, dome-shaped surface that covers the front of the eye). Most eye problems can be managed using protective lenses but some patients may require eye surgery.
Eye surgeries for Alport patients
Lens replacement
Many people with Alport syndrome develop anterior lenticonus, or bulging of the lens. The defects in type 4 collagen can also lead to small ruptures in the lens capsule. When the small fractures heal, the lens might become cloudy, known as a cataract.
Cataract and lenticonus can both be treated with lens replacement surgery, where the lens is removed using ultrasound energy or with the help of laser technology, and an artificial lens is implanted.
Cornea transplant
When the tissue that covers the cornea fails to attach to its underlying structure, the basement membrane, this causes what is called a corneal abrasion. A corneal abrasion is associated with itchiness, blurred vision, light sensitivity, and tears.
In most cases, the condition does not affect vision and can be treated with protective lenses and eyedrops that keep the eyes lubricated. The defective attachment can, however, cause dystrophy or degeneration of the cornea, a condition known as posterior polymorphous corneal dystrophy. When the dystrophy progresses, patients might require a cornea transplant. In this procedure, the cornea or part of the cornea is removed and replaced with corneal tissue from a healthy donor.
Vitrectomy
Less than 5 percent of Alport syndrome patients develop a macular hole, which is a tear in the retina. The eye’s interior is filled with a vitreous, gel-like substance, which escapes through this whole and causes blurred or distorted vision, especially in the visual center.
Vitrectomy is a surgical procedure where the vitreous gel is removed and replaced with a bubble containing a mixture of air and gas. This bubble holds the edge of the macular hole in place as it heals and is gradually absorbed by the eye.
The vitreous cavity then refills with natural eye fluids. During the first days of the healing process, the bubble has to be pressed against the macula, which is achieved by a face-down position. It can be very distressing to stay in this position for several days, and Alport syndrome patients often do not respond well to vitrectomy.
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