Congenital cystic eye with multiple dermal appendages: a case report

Area of Science:

• Ophthalmology
• Developmental Biology
• Medical Genetics

Background:

• Congenital cystic eye is an extremely rare ocular anomaly.
• It results from the incomplete involution of the primary optic vesicle.
• This malformation leads to a cyst replacing the normal eye structures.

Observation:

• A case of congenital cystic eye was observed in a 1-day-old female infant.
• The condition presented as a large orbital mass, obscuring ocular structures.
• Multiple dermal appendages were noted on the adjacent face and neck.

Findings:

• This report details the second documented case of congenital cystic eye with associated facial and neck dermal appendages.
• The absence of a globe or other ocular structures was confirmed.
• The orbital mass significantly distended the eyelids.

Implications:

• This case expands the understanding of congenital cystic eye presentation.
• It underscores the importance of recognizing rare congenital anomalies.
• Further research may elucidate the genetic or developmental pathways linking ocular malformations with ectodermal appendages.