Bilateral anterior lenticonus - Scheimpflug imaging system documentation and ultrastructural confirmation of Alport syndrome in the lens capsule

Background: Alport syndrome is a combination of proteinuria, hematuria, and neurosensory high-frequency deafness. Bilateral anterior lenticonus may be a late sign. Diagnosis relies on characteristic electron microscopy change s of glomerular basement membranes in renal biopsy specimens. Patient: A 38-year-old man was seen for progressive visual acuity loss (20/ 400 OU; best-corrected visual acuity, 20/60 OD and 20/50 OS). Findings from slitlamp examination included bilateral anterior lenticonus and central po sterior subcapsular cataract, documented using a modified Scheimpflug imagi ng system. Retinal pathology was not present. On detailed questioning, a hi story of microhematuria and proteinuria since childhood and progressive hig h-frequency deafness for years were discovered. The family history was nega tive for nephropathies, deafness, or eye diseases. Cataract extraction reha bilitated the patient's vision. Results: Electron microscopy of a fragile capsulorhexis specimen showed typ ical thinned basal lamina with basement membrane disruptions. Conclusions: Anterior lenticonus is a rare bilateral progressive developmen tal anomaly. More than 90% of cases art associated with Alport syndrome. Fo r diagnosis of Alport syndrome, the presence of 3 of 4 criteria is required : family history positive for Alport syndrome, progressive intra-auricular deafness, characteristic eye anomalies, and positive findings from glomerul ar ultrastructural examination. We believe that ultrastructural proof of an terior lenticonus may also be provided in the lens capsule.