Ectopia cilia with pedigree analysis: Second case report in the world

Area of Science:

• Ophthalmology
• Medical Genetics

Background:

• Ectopic cilia, characterized by misplaced eyelashes, is an exceptionally rare condition in humans.
• Documented human cases of ectopic cilia are limited, with only 12 reported globally prior to this study.

Observation:

• A 28-year-old male presented with ectopic cilia located on the outer third of his left upper eyelid.
• The patient's maternal grandfather was also reported to have ectopic cilia affecting the left upper eyelid, suggesting a potential hereditary component.

Findings:

• This case represents the second reported instance of ectopic cilia in humans that includes detailed pedigree analysis.
• The familial occurrence highlights the importance of genetic factors in the etiology of ectopic cilia.

Implications:

• This case contributes valuable data to the scarce literature on human ectopic cilia.
• Further research into the genetic basis of ectopic cilia may aid in understanding and potentially managing this rare condition.