Ocular manifestation of the Alport syndrome: A case report

Purpose: Ocular features of Alport syndrome include anterior lenticonus, posterior polymorphous corneal dystrophy, and fleck-and-dot retinopathy in most cases. Keratoconus in such patients has been rarely mentioned in previous studies. To our knowledge, this is the first report of corneal cross-linking for halting the progression of keratoconus in a patient with Alport syndrome. Case report: A 22-year-old male was referred for his initial corneal topography, after he was already prescribed with rigid gas-permeable contact lenses. Alport syndrome was diagnosed in his infancy and gene COL4A5 mutation was confirmed. Ophthalmological evaluation confirmed keratoconus. One-year follow-up showed a progression on his right eye and standard corneal cross-linking was performed. Stabilization of the disease marked by normalization in visual function and corneal tomography values was noticed 1 year after the procedure. Conclusions: When diagnosing ocular clinical findings of Alport syndrome, keratoconus should be considered. Standard corneal cross-linking protocol can halt its progression.

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Surgical management, optical considerations and refractive outcomes in anterior lenticonus associated with Alport syndrome: A case report

Journal Français d Ophtalmologie ◽

10.1016/j.jfo.2020.09.013 ◽

2021 ◽

Author(s):

K. Bradly ◽

P. Zeboulon ◽

R. Rampat ◽

D. Gatinel

Keyword(s):

Case Report ◽

Surgical Management ◽

Alport Syndrome ◽

Refractive Outcomes ◽

Anterior Lenticonus

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Intractable Headaches in a Patient with Alport Syndrome with No Evidence of Brain Lesions-A Case Report

Journal of Pain & Relief ◽

10.4172/2167-0846.1000278 ◽

2016 ◽

Vol 06 (01) ◽

Author(s):

Mitchell Stotland

Keyword(s):

Case Report ◽

Alport Syndrome ◽

Brain Lesions

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

10.26715/jbms.33_2021_3_8 ◽

2021 ◽

Vol 33 (3) ◽

pp. 46-48

Author(s):

Aysha Tareq Nusef ◽

Abdulla Almoosa ◽

Wael Wagih Aly

Keyword(s):

Hearing Loss ◽

Case Report ◽

Renal Insufficiency ◽

Sensorineural Hearing Loss ◽

Alport Syndrome ◽

Crystalline Lens ◽

Secondary Hypertension ◽

Sensorineural Hearing ◽

Blurred Vision ◽

Ophthalmic Manifestations

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 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

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