Absence of iris
ICD-10 Q13.1 is a billable code used to indicate a diagnosis of absence of iris.
Absence of iris, also known as aniridia, is a congenital condition characterized by the complete or partial absence of the iris, the colored part of the eye. This condition can lead to various visual impairments, including photophobia (sensitivity to light), nystagmus (involuntary eye movement), and reduced visual acuity. Aniridia is often associated with other ocular anomalies such as cataracts, glaucoma, and corneal opacities. It can occur as an isolated condition or as part of syndromic presentations, such as WAGR syndrome, which includes Wilms tumor, aniridia, genitourinary abnormalities, and range of developmental delays. The genetic basis of aniridia is primarily linked to mutations in the PAX6 gene, which plays a crucial role in eye development. Diagnosis typically involves a comprehensive eye examination and may include genetic testing to identify underlying syndromic associations. Management of aniridia focuses on addressing visual impairments and monitoring for associated ocular conditions, often requiring a multidisciplinary approach involving pediatricians, ophthalmologists, and geneticists.
Detailed pediatric history including prenatal factors, family history of congenital conditions, and developmental milestones.
Evaluation of a child presenting with photophobia and visual impairment, assessment of developmental delays in a child with aniridia.
Consideration of the psychosocial impact of visual impairment on child development and family dynamics.
Genetic testing results, family pedigree, and documentation of any syndromic associations.
Genetic counseling for families with a history of aniridia or related syndromes, assessment of risk for future pregnancies.
Understanding the inheritance patterns and implications of genetic findings for family members.
Used for routine follow-up of a patient with aniridia.
Document visual acuity, ocular health, and any interventions performed.
Ophthalmologists should ensure thorough documentation of findings related to aniridia.
Accurate coding of aniridia is crucial for appropriate management and monitoring of associated ocular conditions. It also aids in genetic counseling and understanding the potential implications for the patient and their family.
