Ophthalmic Manifestations in Children With Congenital Hypothyroidism

Area of Science:

• Pediatric Endocrinology
• Ophthalmology
• Genetics

Background:

• Congenital hypothyroidism (CH) is a condition present at birth that affects thyroid hormone production.
• CH is associated with various systemic abnormalities, impacting multiple organ systems.
• The ocular manifestations of CH are not fully characterized, necessitating further investigation.

Purpose of the Study:

• To determine the prevalence of ophthalmic abnormalities in children diagnosed with congenital hypothyroidism.
• To identify specific types of eye conditions associated with CH.
• To highlight the importance of ophthalmological screening in this patient population.

Main Methods:

• Retrospective review of ophthalmological examinations and demographic data of 121 children with CH (aged 1-216 months).
• Data collected between April 2013 and April 2015.
• Analysis included assessment of systemic abnormalities alongside ocular findings.

Main Results:

• Ophthalmic pathology was identified in 40.4% of children with CH.
• Refractive errors (79.5%) and strabismus (32.6%) were the most common ophthalmic findings.
• High rates of associated systemic conditions, including congenital heart defects (47.1%), neurologic abnormalities (38.0%), Down syndrome (17.3%), and atopic dermatitis (8.2%), were observed.

Conclusions:

• Children with congenital hypothyroidism exhibit a significant frequency of ophthalmic pathologies.
• Associated systemic abnormalities, such as congenital heart defects and Down syndrome, are prevalent in this cohort.
• Routine ophthalmological examinations are recommended for all children diagnosed with CH from the time of initial diagnosis.