Consanguinity and Increased Risk of Congenital Ptosis: A Case-Control Study from Southern Iran

Area of Science:

• Ophthalmology
• Genetics
• Public Health

Background:

• Congenital ptosis is a common condition affecting the eyelid.
• The genetic factors contributing to congenital ptosis are not fully understood.
• Consanguinity has been implicated in various genetic disorders.

Purpose of the Study:

• To investigate the association between consanguinity and congenital ptosis.
• To determine if consanguinity acts as a risk factor for developing congenital ptosis.
• To explore the potential genetic inheritance patterns of congenital ptosis.

Main Methods:

• A case-control study was conducted with 97 patients diagnosed with congenital ptosis and 97 matched controls.
• The inbreeding coefficient (F) was calculated for all participants.
• Demographic data including age, sex, and residence were matched between cases and controls.

Main Results:

• The prevalence of consanguineous marriages was significantly higher in parents of children with congenital ptosis (54.6%) compared to controls (30.9%) (P < 0.002).
• The mean inbreeding coefficient (α) was elevated in patients with congenital ptosis (0.026) versus controls (0.016) (P = 0.0129).

Conclusions:

• Consanguineous marriage is a significant risk factor for congenital ptosis.
• The findings suggest a probable recessive inheritance pattern in the etiology of congenital ptosis.
• Further research into the genetic basis of congenital ptosis is warranted.