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Paediatric Causes of Pupil Irregularity

Single Most Likely Diagnosis

  • Congenital anomalies: Such as coloboma, which can cause irregular pupil shape due to abnormal development of the iris. This is a common cause of pupil irregularity in children and is often diagnosed at birth or during early childhood.

Other Likely Diagnoses

  • Trauma: Injury to the eye can cause pupil irregularity due to damage to the iris or surrounding structures. This is a common cause of acquired pupil irregularity in children.
  • Uveitis: Inflammation of the uvea can cause pupil irregularity due to scarring or adhesions in the iris. This condition can be associated with systemic diseases or infections.
  • Congenital cataract: Abnormal lens development can cause pupil irregularity due to associated iris abnormalities.

Do Not Miss Diagnoses

  • Retinoblastoma: Although rare, this malignant tumor can cause pupil irregularity due to invasion of the iris or secondary glaucoma. Early detection is crucial for treatment and prognosis.
  • Neuroblastoma: This cancer can metastasize to the orbit and cause pupil irregularity due to compression or invasion of the iris or surrounding structures.
  • Intraocular foreign body: A retained foreign body in the eye can cause pupil irregularity due to chronic inflammation or scarring.

Rare Diagnoses

  • Axenfeld-Rieger syndrome: A rare genetic disorder that can cause pupil irregularity due to abnormal development of the iris and anterior segment.
  • Aniridia: A rare congenital condition characterized by partial or complete absence of the iris, which can cause pupil irregularity.
  • Ectopia lentis: Abnormal lens position can cause pupil irregularity due to associated iris abnormalities, often seen in conditions such as Marfan syndrome or Ehlers-Danlos syndrome.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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