Bilateral combined anterior and posterior lenticonus in Alport’s Syndrome

Uma Sharan Tiwari,Ankita Aishwarya,Rashmi Kujur

doi:10.22336/rjo.2018.35

Abstract

Alport's syndrome is an inherited disease characterized by hearing loss, progressive renal failure and ocular abnormalities like anterior lenticonus, corneal opacities, cataract, fleck retinopathies, and temporal retinal thinning. To have anterior and posterior lenticonus in the same eye in this syndrome is a rare finding and only a few such reports are available. Hereby, we report a case of a 22-year-old male with bilateral combined anterior and posterior lenticonus with sensorineural deafness and nephritis leading to the diagnosis of Alport's syndrome.

Highlights

The classical Alport’s syndrome is characterized by a triad of progressive hematuria nephritis, progressive hearing loss, and ocular signs
It is estimated that 1–4 in 100,000 children is the prevalence of posterior lenticonus [4]
All mutations lead to abnormalities in the cochlea, basement membrane of the glomerulus, retina, lens capsule, and cornea, which contribute to the typical phenotype of Alport’s syndrome [5]

Summary

Introduction

The classical Alport’s syndrome is characterized by a triad of progressive hematuria nephritis, progressive hearing loss, and ocular signs. It is an X linked disorder [1]. A 22-year-old male presented in the outpatient department with complaints of gradual diminision of vision in both eyes since eight years. Both corneae were clear, pupillary reactions were normal and Intraocular Pressure (IOP) was 14 mm Hg in Right Eye and 12 mm Hg in Left Eye. Lens showed anterior and posterior lenticonus with anterior sub capsular lenticular. Ultrasonography of right kidney revealed nephritis (Fig. 4). All these findings suggested the diagnosis of Alport’s syndrome. The decision for cataract surgery was deferred for the time being and he was kept under for regular follow-up

Discussion

Conclusion