Ординатура / Офтальмология / Английские материалы / Illustrated Tutorials in Ophthalmology Kanski, Bolton 2001
.pdf
Coloboma
Ocular associations
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Coloboma of iris |
Coloboma of choroid |
Giant retinal tear |
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Lenticonus
Posterior |
Anterior |
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Posterior axial bulge |
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Anterior axial bulge |
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Unilateral - usually sporadic |
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Associated with Alport syndrome |
• Bilateral - familial or in Lowe |
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syndrome |
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Small lens
Microphakia |
Microspherophakia |
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Small diameter |
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Small diameter and spherical |
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Systemic association |
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May be familial (dominant) |
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- Lowe syndrome |
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Systemic association |
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- Weill-Marchesani syndrome |
ECTOPIA LENTIS
1.Acquired
2.Isolated familial ectopia lentis
3.Associated with systemic syndromes
•Marfan syndrome
•Weill-Marchesani syndrome
•Homocystinuria
4.Treatment options
Acquired ectopia lentis
Trauma |
Stretched zonules |
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Buphthalmos |
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Megalocornea |
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Anterior uveal tumours |
Degenerate eye |
Isolated familial ectopia lentis
Autosomal recessive
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Pupil may be normal |
Pupil may be displaced in opposite |
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direction (ectopia lentis et pupillae) |
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Autosomal dominant
Systemic features of Marfan syndrome
• Limb-trunk disproportion |
• Arachnodactyly |
• Pectus excavatum |
• Aortic dilatation, dissection |
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and regurgitation |
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• High-arched palate |
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• Mitral valve prolapse |
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Ocular features of Marfan syndrome
Lens |
Retinal detachment |
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• Upward subluxation |
• Lattice degeneration |
• Axial myopia |
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• Zonule usually intact |
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Angle anomaly and |
Cornea plana |
Blue sclera |
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glaucoma |
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Autosomal recessive
Weill-Marchesani syndrome
Systemic features |
Ocular features |
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Short stature |
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Microspherophakia |
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Usually anterior lens subluxation |
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Short stubby fingers (brachydactyly) |
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Mental handicap |
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Angle anomaly and glaucoma |
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Homocystinuria
•Autosomal recessive
•Defect in cystathio beta-synthase
Systemic features |
Ocular features |
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Malar flush and fine, fair hair • |
Downward lens subluxation |
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Marfanoid habaitus |
Disintegration of zonule |
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Increased platelet stickiness |
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Mental handicap |
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