Researchers Report Rare Case of Alport Syndrome with Lens Abnormalities Prior to Renal Symptoms

Rare bilateral eye lens abnormalities without advanced renal manifestations were described in a patient with Alport syndrome in India.

The case was described in the article titled “Simultaneous Bilateral Anterior and Posterior Lenticonus in Alport Syndrome,” that was published at the Journal of Clinical and Diagnostic Research.

Patients with Alport syndrome can develop kidney, ear, and eye symptoms. The development of blurred vision due to deformation of the eye lens into a conical shape, medically termed as lenticonus, is one ocular clinical manifestation of the disease.

In Alport patients, lenticonus commonly affects the anterior, or front, lens surface. But in very rare cases it can also be found in the posterior, or back, surface. Still, posterior lenticonus is more common among patient with Lowe syndrome.

A research team led by Dr. Ravi Kant Bamotra, senior resident in the Department of Ophthalmology at the Government Medical College and Hospital in Chandigarh, India, presented the case of a 22-year-old woman who presented bilateral anterior and posterior lenticonus.

The woman complained of both distant and near vision loss for over 7 years. After detailed ocular examination, the clinical team could confirm the presence of anterior and posterior lenticonus in both eyes, with no additional ocular abnormalities. Surgical replacement of the faulty lens in both eyes restored the clarity and sharpness of the patient’s vision.

Based on these ocular clinical features, the hypothesis of Alport syndrome diagnosis was raised. To confirm this, additional clinical evaluations were conducted.

Clinical history revealed decreased hearing since childhood, which was confirmed upon audiometry analysis, However no family history indicated any signs of renal disease or other conditions potentially associated to Alport syndrome. Urine examination showed presence of small amounts of red blood cells, which ultimately confirmed the diagnosis of Alport syndrome.

The usual presentation of lenticonus in Alport patients occurs around early middle age, when renal symptoms are more advanced and renal failure has already set in. However, in this case, the lenticonus manifestations started before any complaints of renal symptoms or other ocular manifestations, such as Alport’s characteristic dot-and-fleck retinopathy or corneal dystrophy.

Early diagnostis of Alport in this case provides the opportunity for a better patient follow-up regarding renal disease progression, and prevention of renal failure, the authors highlighted.

“Our case serves to illustrate the fact that both anterior and posterior lenticonus may be present simultaneously in classical Alport’s syndrome, even in the absence of corneal and retinal findings,” the researchers wrote on the report.