A CASE REPORT OF TEMPORAL MACULAR THINNING ASSOCIATED WITH ALPORT SYNDROME

Area of Science:

• Ophthalmology
• Nephrology
• Genetics

Background:

• Alport syndrome is a genetic disorder affecting the kidneys, ears, and eyes.
• Macular thinning, particularly in the temporal region, can be an ocular manifestation of Alport syndrome.
• Identifying ocular signs can aid in early diagnosis and management of systemic conditions.

Purpose of the Study:

• To report a case of severe temporal macular thinning in a patient diagnosed with Alport syndrome.
• To highlight the significance of temporal macular thinning as a potential indicator of systemic disease.
• To emphasize the role of ophthalmologists in identifying and referring patients with this finding.

Main Methods:

• Clinical examination of the patient.
• Multimodal imaging, including high-resolution optical coherence tomography (OCT).
• Review of the patient's history following treatment for hypertensive crisis and renal failure.

Main Results:

• The 19-year-old patient presented with resolving hypertensive retinopathy.
• High-resolution OCT confirmed significant temporal macular thinning consistent with Alport syndrome.
• The findings underscore the association between ocular and renal manifestations.

Conclusions:

• Optical coherence tomography is an effective noninvasive imaging modality for detecting characteristic temporal macular thinning in Alport syndrome.
• OCT findings can support the diagnosis of Alport syndrome, potentially serving as an alternative to invasive procedures like renal biopsy.
• Early recognition of ocular signs by ophthalmologists is crucial for appropriate patient referral and management.