Ascher's syndrome: A rare case report.

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.

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.