Spontaneous Rupture Of Anterior Lens Capsule In Two Siblings, A Rare Presentation Of Alport’S Syndrome.

To share a unique presentation of anterior lenticonus and highlight the ophthalmologist’s role in early diagnosis of Alport’s that could help in slowing the morbidity caused by renal involvement 

Aravind eye hospital, Tirupati

A 12-year-old boy presented in with vision loss in left eye. His best corrected visual acuity was 6/9 in the right eye and 6/60 in the left eye. Slit-lamp showed bilateral anterior lenticonus with rupture of the anterior lens capsule in left eye. No history of trauma. Urine exam showed RBCs; renal parameters normal; audiogram indicated early sensorineural deafness. Intra-operatively, cortex was aspirated through the pre-existing capsular opening and an acrylic IOL implanted. Post-op BCVA improved to 6/6. He was refered to a nephrologist but then lost to followup

Ten months later, his 12-year-old brother presented with vision loss in right eye 6/36 and with an unfortunate history of demise of the elder brother.  Slit-lamp evaluation showed bilateral anterior lenticonus with rupture of the anterior lens capsule in right eye and similar surgery was performed. Both achieved good vision post-surgery. Early signs (hematuria, deafness) detected despite normal renal function was able to prompt early referal and more aggresive systemic management in the second child. 

Ocular examination is highly specific and may enable the diagnosis of Alport Syndrome at initial consultation. The ocular presentation and the presence of early sensory neural deafness prompted early referral to the nephrologist in our patient. It is crucial that clinicians like ophthalmologist, otorhinolaryngologist, pediatrician’s attempt to establish a definitive diagnosis in people with suspected AS (Anterior Lenticonus, spontaneous ALC rupture, high altitudinal sensory neural hearing loss, persistent glomerular hematuria) and to know the risk of disease in other family members. This case report highlights ophthalmologist's role in Alport’s syndrome diagnosis.