One of our greatest “superpowers” is the ability to make connections between findings on the eye exam and systemic disease. Prevalent diseases such as diabetes, hypertension, and thyroid disorder are readily found on our ophthalmic exams. However, we can often detect uncommon and rare genetic diseases. Such is the case in this blog post where Dr. Fishman presents video and OCT images showing the ocular findings in Alport’s Syndrome.
“Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV α3α4α5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, fleck retinopathy, and temporal retinal thinning. (Ocular Features in Alport Syndrome: Pathogenesis and Clinical Significance Judy Savige, Shivanand Sheth, Anita Leys, Anjali Nicholson, Heather G. Mack and Deb Colville. CJASN April 2015, 10 (4) 703-709; DOI: https://doi.org/10.2215/CJN.10581014).
In this case, all of these above were found on an exam with Dr. Fishman. It is important to note that these clues to systemic disease not only help guide long-term major medical decisions, but can be life saving.