Congenital aphakia
ICD-10 Q12.3 is a billable code used to indicate a diagnosis of congenital aphakia.
Congenital aphakia is a rare congenital malformation characterized by the absence of the lens of the eye at birth. This condition can occur as an isolated anomaly or as part of a syndrome involving other ocular or systemic abnormalities. The absence of the lens leads to significant visual impairment, as the lens is crucial for focusing light onto the retina. Congenital aphakia may be associated with other congenital eye defects such as anophthalmia (absence of the eye) or microphthalmia (abnormally small eye). It can also be linked to chromosomal abnormalities, including those seen in syndromes like Down syndrome or Turner syndrome. Diagnosis typically involves a comprehensive eye examination, including visual acuity testing and imaging studies to assess the structure of the eye. Management may include corrective lenses, surgical interventions, and ongoing visual rehabilitation to optimize visual function. Early detection and intervention are critical to improving outcomes for affected infants and children.
Pediatric documentation should include detailed descriptions of visual assessments, developmental milestones, and any associated congenital anomalies.
Common scenarios include infants presenting with poor visual tracking or abnormal eye movements, requiring referral to pediatric ophthalmology.
Considerations include the need for early intervention services and coordination with educational resources for visually impaired children.
Genetic documentation should include family history, genetic testing results, and any syndromic associations.
Scenarios may involve genetic counseling for families with a history of congenital eye defects or syndromes associated with aphakia.
Considerations include the potential for chromosomal abnormalities and the need for comprehensive genetic evaluation.
Used in cases where surgical intervention is required for congenital aphakia.
Document the indication for surgery and any preoperative assessments.
Ophthalmology specialists should provide detailed operative notes.
Congenital aphakia is present at birth due to developmental failure, while acquired aphakia occurs later in life, often due to trauma or surgical removal of the lens. Accurate coding requires distinguishing between these two types.
