Spherophakia
ICD-10 Q12.4 is a billable code used to indicate a diagnosis of spherophakia.
Spherophakia is a rare congenital eye condition characterized by the presence of abnormally small, spherical lenses in the eyes. This malformation can lead to significant visual impairment and is often associated with other ocular anomalies such as microphthalmia or anophthalmia. The condition arises from developmental issues during embryogenesis, particularly affecting the lens and its surrounding structures. Spherophakia can occur as an isolated defect or as part of a syndrome involving other congenital malformations. Patients may present with symptoms such as blurred vision, photophobia, and strabismus. Diagnosis typically involves a comprehensive ophthalmologic examination, including slit-lamp biomicroscopy and imaging studies to assess the extent of lens and ocular involvement. Management may include corrective lenses, surgical intervention, or other supportive therapies depending on the severity of the condition and associated anomalies.
Pediatric documentation should include growth and development assessments, family history of congenital conditions, and detailed descriptions of visual function.
Common scenarios include infants presenting with strabismus or developmental delays in visual milestones, requiring thorough evaluation for congenital eye conditions.
Considerations include the impact of spherophakia on overall development and the need for multidisciplinary care involving pediatricians, ophthalmologists, and geneticists.
Genetic documentation should include family history, genetic testing results, and any syndromic associations with spherophakia.
Genetic counseling scenarios may involve families with a history of congenital eye conditions, discussing recurrence risks and potential syndromic links.
Considerations include the need for genetic evaluation in cases of spherophakia associated with other congenital anomalies or syndromes.
Used in cases where surgical intervention is required for lens-related issues in spherophakia.
Documentation must include pre-operative assessments, surgical indications, and post-operative care plans.
Ophthalmologists should ensure that all surgical interventions are well-documented to support coding.
Spherophakia refers specifically to the abnormal shape and size of the lens, while microphthalmia involves the overall underdevelopment of the eye, including the globe and associated structures.
