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Related Experiment Videos

Posterior polymorphous dystrophy and Alport syndrome.

C Teekhasaenee1, S Nimmanit, S Wutthiphan

  • 1Department of Ophthalmology, Ramathibodi Hospital, Bangkok, Thailand.

Ophthalmology
|August 1, 1991
PubMed
Summary
This summary is machine-generated.

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Posterior polymorphous dystrophy is often overlooked in Alport syndrome patients, with many exhibiting ocular changes. Early detection of these linked hereditary conditions is crucial for managing potential kidney and hearing issues.

Area of Science:

  • Ophthalmology
  • Nephrology
  • Genetics

Background:

  • Alport syndrome is a hereditary kidney disease often associated with ocular and auditory abnormalities.
  • Posterior polymorphous dystrophy (PPMD) is a corneal disorder with a genetic basis.
  • The co-occurrence of Alport syndrome and PPMD suggests a potential shared genetic or developmental pathway.

Purpose of the Study:

  • To investigate the prevalence of ocular changes, specifically posterior polymorphous dystrophy, in patients with Alport syndrome.
  • To evaluate the renal and auditory status of patients diagnosed with posterior polymorphous dystrophy.
  • To explore the potential link between Alport syndrome and posterior polymorphous dystrophy due to a possible common defect in basement membrane formation.

Main Methods:

Related Experiment Videos

  • Ocular examination and specular microscopy were performed on 17 Thai patients from 9 families with Alport syndrome.
  • Renal evaluation, including urinalysis and kidney biopsy, was conducted on 18 consecutive patients from 14 families with posterior polymorphous dystrophy.
  • Audiological assessment for sensorineural hearing loss was performed on patients with posterior polymorphous dystrophy.

    • Main Results:

    • 82.3% of Alport syndrome patients exhibited ocular changes, with 64.7% showing endothelial vesicles consistent with posterior polymorphous dystrophy.
    • Four Alport syndrome patients with posterior polymorphous dystrophy also presented with subepithelial opacities, a novel finding.
    • Among posterior polymorphous dystrophy patients, 5 had hematuria and 4 of those had sensorineural hearing loss; 2 had characteristic renal biopsy findings. One patient had hearing loss without hematuria but showed a thin glomerular basement membrane on biopsy.

    Conclusions:

    • Posterior polymorphous dystrophy is a frequent, yet often unrecognized, ocular manifestation in Alport syndrome.
    • The high association between these two hereditary conditions points towards a potential common genetic defect in basement membrane development.
    • Ophthalmologists should screen patients with posterior polymorphous dystrophy for renal abnormalities and hearing loss, and vice versa.