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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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In Europe, boys are affected more frequently than girls, and the condition is usually apparent during the first year of life in more than 80 percent of patients (1).
The clinical triad of epiphora, blepharospasm and photophobia usually chracterise the disease (1)

  • epiphora is the earliest and most constant finding (although this scan be mistaken for congenital nasolacrimal duct obstruction and are often overlooked) (1)

Corneal clouding and ocular enlargement are the usual presenting symptoms (1). Increased ocular pressure is the cardinal sign.

Glaucomatous cupping of the optic disc occurs relatively early.

  • cup-to-disc ratio is increased (normal value in a healthy newborn is less than 0.3)
  • asymmetry in the cup to disc ratios (1)

Later findings include increased corneal diameter - above 11.5 mm is thought significant, epithelia oedema and increased depth of the anterior chamber. Corneal oedema disturbs the normal, bright lustre of the normal cornea, producing a "ground-glass" appearance. It is often accompanied by ruptures in the Descemet’s membrane (Haab striae) (1). The eye is buphthalmic.

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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