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Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
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Alport syndrome and eye.

Yeonji Jang1, Jae Ho Jung2

  • 1Department of Ophthalmology, Uijeongbu Eulji Medical Center, Eulji University School of Medicine, Uijeongbu, Republic of Korea.

Kidney Research and Clinical Practice
|December 5, 2024
PubMed
Summary

Alport syndrome (AS) involves kidney, hearing, and eye issues from collagen IV gene defects. Ocular signs like lenticonus can predict AS severity and guide treatment.

Keywords:
Alport syndromeBasement membraneEye manifestationsHereditary nephritisOptical imaging

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Area of Science:

  • Ophthalmology
  • Genetics
  • Nephrology

Background:

  • Alport syndrome (AS) is a genetic disorder caused by mutations in collagen type IV genes.
  • It manifests with progressive renal failure, sensorineural hearing loss, and ocular abnormalities.
  • Ocular manifestations are diverse, affecting the cornea, lens, and retina.

Purpose of the Study:

  • To review the distinct ocular features associated with Alport syndrome.
  • To explore the diagnostic role of ophthalmological examinations in Alport syndrome.
  • To correlate ocular findings with genotype and predict disease severity.

Main Methods:

  • Literature review of studies on Alport syndrome and its ocular manifestations.
  • Analysis of ophthalmological findings in patients with known collagen type IV mutations.
  • Examination of genotype-phenotype correlations.

Main Results:

  • Ocular abnormalities, including corneal changes, lenticonus, and retinal flecks, are common in Alport syndrome.
  • Ophthalmological findings provide noninvasive insights into basement membrane defects.
  • Specific ocular signs can predict mutation severity and early-onset renal failure.

Conclusions:

  • Ophthalmological examinations are valuable for Alport syndrome diagnosis and management.
  • Recognizing ocular manifestations aids in predicting disease progression and inheritance patterns.
  • Understanding genotype-phenotype correlations can inform clinical strategies and improve patient outcomes.