Congenital malformation of optic disc
ICD-10 Q14.2 is a billable code used to indicate a diagnosis of congenital malformation of optic disc.
Congenital malformation of the optic disc refers to a range of developmental anomalies affecting the optic nerve head, which can lead to visual impairment or blindness. These malformations can include optic nerve hypoplasia, where the optic nerve is underdeveloped, or coloboma, where a portion of the optic disc is missing. Such conditions may be isolated or associated with other congenital syndromes, including chromosomal abnormalities like trisomy 13 or 18. The clinical presentation can vary widely, with some patients experiencing significant visual deficits while others may have relatively normal vision. Diagnosis typically involves a comprehensive eye examination, including fundoscopic evaluation, and may be supplemented by imaging studies such as MRI to assess the optic nerve and surrounding structures. Early identification and intervention are crucial for optimizing visual outcomes and managing associated developmental challenges.
Documentation should include detailed visual assessments, family history, and any associated developmental delays.
Common scenarios include referrals for visual impairment evaluations, management of associated developmental delays, and coordination with ophthalmology.
Pediatric coders must ensure that all associated conditions are documented to capture the full clinical picture.
Genetic documentation should include results from chromosomal analysis and any syndromic associations.
Scenarios may involve genetic counseling for families with a history of congenital eye anomalies or syndromic conditions.
Genetic coders should be aware of the implications of chromosomal abnormalities on the management of congenital malformations.
Used for initial evaluation of a child with suspected congenital optic disc malformation.
Document visual acuity, fundoscopic findings, and any referrals made.
Pediatric ophthalmologists should ensure comprehensive documentation of findings.
Documentation should include a detailed clinical assessment of the optic disc, visual function evaluations, and any associated congenital anomalies or syndromic conditions. Genetic testing results should also be included when applicable.
