Choroideremia

This code represents choroideremia, a rare, X-linked genetic disorder characterized by progressive degeneration of the choroid, retinal pigment epithelium, and photoreceptors. It primarily affects males, leading to night blindness in childhood and eventual complete blindness.

Use this code for patients diagnosed with choroideremia based on clinical examination, genetic testing, and characteristic funduscopic findings. Documentation should clearly indicate the diagnosis of this specific inherited retinal dystrophy.

• Confirm genetic testing results or a strong family history consistent with X-linked inheritance, if available.
• Differentiate from other forms of retinitis pigmentosa or choroidal dystrophies.
• This code is typically a primary diagnosis for patients presenting with symptoms or follow-up care for this condition.