Congenital malformation of retina
ICD-10 Q14.1 is a billable code used to indicate a diagnosis of congenital malformation of retina.
Congenital malformation of the retina refers to a range of developmental anomalies affecting the retina, which can lead to visual impairment or blindness. These malformations may include conditions such as retinal dysplasia, coloboma, and retinopathy of prematurity. The retina is crucial for vision as it converts light into neural signals. Malformations can arise from genetic factors, environmental influences, or a combination of both during fetal development. Clinical manifestations vary widely, from mild visual disturbances to severe vision loss. Diagnosis typically involves a comprehensive eye examination, including fundus photography and optical coherence tomography (OCT). Early detection and intervention are essential for managing these conditions, particularly in pediatric patients, to optimize visual outcomes and support developmental milestones.
Pediatric documentation should include detailed visual assessments, family history of congenital conditions, and developmental milestones.
Common scenarios include routine screenings for premature infants, evaluations for strabismus, and assessments for developmental delays.
Considerations include the impact of visual impairment on overall development and the need for multidisciplinary care.
Genetic documentation should include family history, results of genetic testing, and any syndromic associations.
Scenarios include genetic counseling for families with a history of retinal malformations and evaluations for syndromic conditions like CHARGE syndrome.
Considerations include the need for genetic testing to identify underlying chromosomal abnormalities that may be associated with retinal malformations.
Used for comprehensive eye exams in patients with congenital retinal malformations.
Document visual acuity, fundoscopic findings, and any interventions.
Ophthalmologists should ensure thorough documentation of findings and treatment plans.
Documentation should include a detailed clinical assessment of the retinal condition, visual function tests, and any relevant imaging studies. Additionally, any associated congenital anomalies should be documented to support the diagnosis.
