Autosomal recessive ocular albinism

This code identifies a genetic disorder characterized by reduced or absent melanin pigment in the eyes, inherited in an autosomal recessive pattern. Patients typically present with nystagmus, photophobia, and significantly impaired visual acuity due to foveal hypoplasia.

Apply this code when documentation explicitly states a diagnosis of autosomal recessive ocular albinism. This diagnosis is often confirmed through genetic testing or a comprehensive ophthalmological examination revealing classic ocular albinism features with a family history consistent with recessive inheritance.

• Differentiate from X-linked ocular albinism (E70.310) and oculocutaneous albinism types.
• Ensure documentation specifies the recessive inheritance pattern; otherwise, use unspecified ocular albinism (E70.319).
• Code any associated visual impairments or other ocular conditions separately.