The Eyes in Alport syndrome
2015年9月1日 · Alport syndrome can cause some eye abnormalities in at least half the patients. Learn about the most common eye conditions patients may experience.
Alport Syndrome - EyeWiki
Alport syndrome is a hereditary glomerular basement membrane disease as a result of mutations in the genes COL4A3/4/5. These genes encode the type IV collagen alpha 3-5 chains. The most frequent inheritance is X-linked dominant, followed by autosomal recessive and autosomal dominant.
Eye Abnormalities and Research - Alport Syndrome Foundation
Eye abnormalities in Alport patients include lenticonus, peripeheral retinopathy, recurrent corneal erosions, fleck retinopahy, and macular holes.
Alport Syndrome: Causes, Symptoms & Treatment - Cleveland Clinic
2022年9月19日 · Type IV collagen is also present in your ears and eyes. So if you have Alport syndrome, it can cause problems with your vision and hearing as well as kidneys.
Alport Syndrome - StatPearls - NCBI Bookshelf
2020年9月6日 · Alport syndrome is a genetic condition characterized by kidney disease, loss of hearing, and eye abnormalities. It occurs due to an abnormality of a gene that codes for type 4 collagen and usually presents in patients with hematuria, edema, and hypertension.
Alport Syndrome: Understanding Eye Implications - All About Vision
2023年7月4日 · Learn about how Alport syndrome affects the eyes, including types of the condition, ocular manifestations and vision care options.
Alport Syndrome: Clinical Spectrum and Therapeutic Advances
2023年5月1日 · Alport syndrome presents as a broad spectrum of disease influenced by genetic factors in affected individuals with clinical manifestations including hematuria, albuminuria, kidney failure, ocular abnormalities, and sensorineural hearing loss.
As collagen IV is present in the cornea, lens, and retina of the eye, these areas of the eye can be affected by Alport syndrome. Common eye symptoms in Alport patients include blurry vision and eye pain.
Alport Syndrome - Medscape
2024年7月1日 · Ocular manifestations. Anterior lenticonus - Occurs in approximately 25% of patients with XLAS; is the pathognomonic feature of Alport syndrome. Dot-and-fleck retinopathy - Most common...
Ocular features aid the diagnosis of Alport syndrome
In this article, Savige and Colville describe the ocular features of Alport syndrome, and suggest that imaging of the central and peripheral retina might be a rapid, noninvasive and inexpensive...
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