Rare Eye Symptoms of Alport Syndrome Linked to COL4A4 Mutation in Portuguese Woman

A genetic mutation affecting the COL4A4 gene was linked for the first time to a rare, vision-threatening event in a woman with Alport syndrome. The case of the 40-year-old Portuguese woman was reported in the study “Bilateral giant macular holes: A rare manifestation of Alport syndrome,” published in…

Rupture of Eye’s Lens Capsule Is Rare and Avoidable Risk in Alport, Case Report Argues

Spontaneous rupture of the anterior lens capsule of the eye is a serious complication of Alport syndrome that can be prevented with timely and proper care, a case report published at Open Access Macedonian Journal of Medical Sciences highlights. Alport syndrome, a progressive disorder, is caused by genetic mutations…

New COL4A3 Gene Mutation Linked to Alport Syndrome Identified in Spanish Family

A new genetic mutation in the COL4A3 gene was identified in a Spanish family and linked to the development of Alport syndrome. According to findings reported in the study, “Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene,”…

Alport Syndrome Case Study to Be Presented at AAO Annual Meeting

A case study of Alport syndrome will be the subject of an oral presentation and discussion at the 96th annual meeting of the American Academy of Optometry (AAO), Oct. 11-14 in Chicago. Titled “A Mutation in the Basement: Case Discussion of Alport Syndrome,” the case study will be…

Chinese Researchers Produce Overview of Alport Syndrome Manifestations and Treatments

Chinese researchers have produced an overview of Alport syndrome that looks at the genetic disease’s primary symptoms — from kidney disease to hearing problems and eye abnormalities — and current treatments. Their report, “Renal, auricular, and ocular outcomes of Alport syndrome and their current management,” was published in the journal…