Related Experiment Videos
[Pseudokeratoconus in trisomy 21 and posterior polymorphous corneal dystrophy]
G K Lang1, L Holbach, U Schlötzer
1Augenklinik mit Poliklinik der Universität Erlangen-Nürnberg.
Klinische Monatsblatter Fur Augenheilkunde
|August 1, 1989
Summary
Posterior polymorphous corneal dystrophy (PPCD) shows variable expressivity within a family. This study details a mother, daughter, and son with PPCD, highlighting distinct clinical presentations and underlying ultrastructural changes.
Area of Science:
- Ophthalmology
- Genetics
- Cell Biology
Background:
- Posterior polymorphous corneal dystrophy (PPCD) is a rare, inherited eye condition.
- It affects the cornea's inner layers, specifically Descemet's membrane and the endothelium.
- Autosomal dominant inheritance patterns are common in PPCD.
Observation:
- Three family members with autosomal dominant PPCD exhibited varying clinical expressivity.
- The mother presented with mild Descemet's membrane irregularities.
- The daughter developed bullous keratopathy and ring-shaped opacities, while the son showed symptoms of acute keratoconus, complicated by Down's syndrome.
Findings:
- Light microscopy revealed a thickened, multilaminated Descemet's membrane with endothelial cell abnormalities.
- Transmission electron microscopy demonstrated normal anterior Descemet's membrane but fibroblastic differentiation of endothelial cells.
- These findings suggest significant ultrastructural changes underlying the varied clinical phenotypes.
Implications:
- Understanding the variable expressivity of PPCD is crucial for accurate diagnosis and patient counseling.
- The observed ultrastructural changes provide insights into the pathogenesis of PPCD.
- Further research may elucidate genotype-phenotype correlations and inform potential therapeutic strategies for corneal endothelial dystrophies.