E70.320
Tyrosinase negative oculocutaneous albinism
Clinical Classification Guidelines
Inclusion Terms
- Albinism I
- Oculocutaneous albinism ty-neg
Medical Intelligence & Overview
Tyrosinase-negative oculocutaneous albinism (OCA) is a genetic condition characterized by a significant reduction or absence of pigment in the skin, hair, and eyes. This form of albinism is distinguished by the lack of tyrosinase enzyme activity, which plays a crucial role in melanin production. Individuals with this condition typically present with very light-colored features and may face specific visual challenges. Understanding the condition helps in managing expectations and health considerations associated with it.
Causes & Symptoms
Clinical Causes: Genetic mutation affecting the OCA2 gene, leading to impaired melanin synthesis Inheritance in an autosomal recessive pattern, meaning a person must inherit two copies of the mutated gene to be affected Absence of tyrosinase enzyme activity, which normally catalyzes a key step in melanin production No direct environmental causes; it is solely a genetic condition
Key Symptoms: Very light skin that is prone to sunburn White or very light-colored hair Light-colored or pinkish eyes, often with reduced pigmentation Visual problems such as nystagmus (involuntary eye movements), strabismus (crossed eyes), and reduced visual acuity Sensitivity to bright light, which can cause discomfort and issues with vision Potential social and psychological challenges related to appearance
Diagnostic & Treatment
Diagnosis Path: Diagnosis involves a comprehensive clinical examination focused on skin, hair, and eye pigmentation. Genetic testing is often performed to identify mutations associated with OCA. Additionally, specialized tests such as light microscopy of hair and biochemical assays can be used to determine enzyme activity levels, particularly tyrosinase activity, which is absent or low in this form of albinism. Visual assessments include measuring visual acuity and examining ocular structures to identify common complications related to the condition.
Treatment Protocols: Regular eye examinations to monitor and manage visual problems Use of sunglasses and protective clothing to shield skin and eyes from sun damage Skin care routines to prevent sunburn and skin damage Educational support for visual impairments, including vision aids and accommodations Psychosocial counseling to support emotional well-being and social integration
Clinical Advice & FAQs
Billing Guidance
Is E70.320 a billable ICD-10 code?
Yes, E70.320 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E70.320?
Clinical documentation must specify the nature of Tyrosinase negative oculocutaneous albinism and any associated comorbidities for accurate reporting.
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