Alport Syndrome: The Eye as a Window to the Human Body

Aysha Tareq Nusef, Abdulla Almoosa, Wael Wagih Aly
2021 Journal of the Bahrain Medical Society  
Alport syndrome (AS) is a rare genetic disease affecting type four collagen production, causing renal, auditory, and ophthalmic manifestations. This case report is about a 32-year-old male who was a known case of renal insufficiency and secondary hypertension and was referred to the ophthalmology department due to blurred vision. Based on the patient's history and ophthalmological findings, AS was diagnosed. Ophthalmic examination showed anterior lenticonus associated with sensorineural hearing
more » ... loss (SNHL) and impaired renal function. This clinical case report sheds light on the role of ophthalmology in diagnosing AS. Keywords: Collagen, Crystalline lens, Hereditary nephritis, Ophthalmology, Renal insufficiency, Sensorineural hearing loss
doi:10.26715/jbms.33_2021_3_8 fatcat:f4s5ks5j5ffifg24jurg2j4lri