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terminology and guidelines for glaucoma ii - Kwaliteitskoepel

terminology and guidelines for glaucoma ii - Kwaliteitskoepel

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2.1 - PRIMARY CONGENITAL FORMS<br />

2.1.1 - PRIMARY CONGENITAL GLAUCOMA<br />

Etiology: Angle dysgenesis<br />

Pathomechanism: Decreased aqueous outflow<br />

Features:<br />

Onset: from birth to second year of life<br />

Heredity: usually sporadic, up to 10% recessive inheritance with variable penetrance<br />

Gender: more common in males (65%)<br />

Specific chromosomal abnormalities have been identified at 1p36 <strong>and</strong> 2q21<br />

Signs <strong>and</strong> symptoms:<br />

Photophobia, tearing, blepharospasm, eye rubbing<br />

IOP in general anesthesia: insufficient alone to confirm the diagnosis unless extremely elevated since general<br />

anesthesia may lower the IOP<br />

Corneal diameter > 11 mm (buphthalmos)<br />

Corneal edema (+/- ruptures of Descemet’s Membrane.)<br />

Optic nerve head: pressure distension/uni<strong>for</strong>m cup enlargement (CDR >0.3)<br />

Gonioscopy: open-angle<br />

poorly differentiated structures<br />

trabeculodysgenesis (including ‘Barkan´s membrane’)<br />

anterior insertion of the iris<br />

2.1.2 - PRIMARY INFANTILE GLAUCOMA / Late-Onset Primary Congenital Glaucoma<br />

Etiology: Angle dysgenesis<br />

Pathomechanism: Decreased aqueous outflow<br />

Features:<br />

Onset: third to tenth year of life<br />

Heredity: usually sporadic, up to 10% recessive inheritance with variable penetrance<br />

Signs <strong>and</strong> symptoms:<br />

Pain unusual, often presents late with symptomatic visual field loss<br />

Peak IOP: > 24 mm Hg without treatment<br />

Cornea: Diameter: < 11 mm (no buphthalmos, no corneal edema)<br />

Optic nerve head: pressure distension/cup enlargement with diffuse rim damage<br />

Gonioscopy: open-angle<br />

poorly differentiated structures, trabeculodysgenesis<br />

anterior insertion of the iris<br />

2.1.3 - GLAUCOMA ASSOCIATED WITH CONGENITAL ANOMALIES<br />

a. Anidria<br />

b. Sturge-Weber syndrome<br />

c. Neurofibromatosis<br />

d. Marfan syndrome<br />

e. Pierre Robin syndrome<br />

f. Homocystinuria<br />

g. Goniodysgenesis: g.1 - Axenfeld-Rieger syndrome<br />

g.2 - Peter’s anomaly<br />

h. Lowe’s syndrome<br />

i. Microspherophakia<br />

j. Microcornea<br />

k. Rubella<br />

l. Chromosomal abnormalities<br />

m. Broad thumb syndrome<br />

n. Persistent hyperplastic primary vitreous<br />

Ch. 2 - 4 EGS

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