| Summary: | Background: Alport Syndrome is a rare hereditary clinical condition that causes a disruption in collagen synthesis. It is associated with ocular findings most commonly involving the cornea, lens, and retina. Case Report: An 18-year-old male presented with progressive bilateral vision loss and a history of hypertension and childhood-onset hearing loss. Retinoscopy revealed two distinct reflexes; further evaluation using slit lamp examination and anterior segment optical coherence tomography (AS-OCT) revealed anterior lenticonus. Corneal topography was also performed to rule out keratoconus or other forms of irregular astigmatism; the results were within normal limits, effectively ruling out corneal ectatic disorders. Genetic testing (COL4A5 mutation) was conducted and confirmed the diagnosis of X-linked Alport syndrome. For ocular management, a soft contact lens trial was performed, in which significant improvement in visual acuity was achieved by neutralizing the high myopic reflex from the central lenticonus. Conclusion: This case highlights the importance of detailed retinoscopic assessment and optometric management in Alport syndrome.
|
|---|