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Ascher's syndrome: A rare case report.

Shivcharan Lal Chandravanshi1, Vinay Mishra

  • 1Department of Ophthalmology, Shyam Shah Medical College, Rewa, Madhya Pradesh, India.

Indian Journal of Ophthalmology
|May 15, 2015
PubMed
Summary

This case study details Ascher's syndrome in an 18-year-old girl, highlighting rare associated features like iris coloboma and eyelid abnormalities. The findings expand understanding of this rare condition.

Area of Science:

  • Ophthalmology
  • Genetics
  • Otorhinolaryngology

Background:

  • Ascher's syndrome is a rare condition characterized by blepharochalasis, double upper lip, and often thyroid abnormalities.
  • This report presents a unique case that expands the known clinical spectrum of Ascher's syndrome.

Observation:

  • An 18-year-old Indian female presented with a 3-year history of intermittent, painless bilateral upper eyelid swelling.
  • Clinical examination revealed bilateral blepharochalasis, narrowing of the horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness, and a double upper lip.

Findings:

  • Despite the classic features of Ascher's syndrome, thyroid function tests and ultrasonography were normal.
  • The patient exhibited rare concurrent findings including iris coloboma, heterochromia iridum, narrowed palpebral fissures, and reduced outer intercanthal distance, attributed to lateral canthal ligament lengthening.

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Implications:

  • This case underscores the importance of comprehensive ophthalmological and genetic evaluation in patients with Ascher's syndrome.
  • The association of specific ocular and craniofacial anomalies broadens the diagnostic criteria and potential genetic associations for Ascher's syndrome.
  • Further research into the genetic underpinnings of these rare presentations is warranted to understand the full phenotypic variability.