Blue sclera
ICD-10 Q13.5 is a billable code used to indicate a diagnosis of blue sclera.
Blue sclera is a congenital condition characterized by a bluish tint to the sclera (the white part of the eye). This condition is often associated with various genetic disorders, most notably osteogenesis imperfecta, which affects collagen production and leads to fragile bones. The blue appearance of the sclera is due to the translucency of the thin scleral tissue, allowing the underlying uveal tissue to show through. Blue sclera can also be seen in conditions such as Ehlers-Danlos syndrome and certain types of Marfan syndrome. Clinically, it is important to assess the patient for other associated anomalies, including skeletal deformities and hearing loss, which may accompany these syndromes. Diagnosis typically involves a thorough clinical examination, family history assessment, and possibly genetic testing to confirm the underlying condition. Management may include supportive care and monitoring for complications associated with the underlying genetic disorder.
Detailed pediatric history including developmental milestones and family history of congenital conditions.
Pediatric patients presenting with blue sclera during routine eye exams or evaluations for suspected genetic syndromes.
Consideration of the child's overall health and any associated congenital anomalies that may require multidisciplinary management.
Genetic testing results, family pedigree, and detailed descriptions of any syndromic features.
Patients referred for genetic counseling due to blue sclera and suspected underlying genetic disorders.
Importance of accurate coding to reflect the genetic basis of the condition and its implications for family members.
Used for routine eye exams in patients with blue sclera.
Document findings related to scleral appearance and any associated ocular anomalies.
Pediatric ophthalmologists may require additional details on developmental milestones.
Blue sclera is commonly associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome. Each of these conditions has distinct genetic implications and may require specific management strategies.
