E70.311
Autosomal recessive ocular albinism
Clinical Classification Guidelines
Medical Intelligence & Overview
Autosomal recessive ocular albinism is a rare genetic condition characterized primarily by a lack of pigmentation in the eyes. Unlike other forms of albinism that affect the skin and hair, this condition primarily impacts vision. It results from specific genetic mutations that influence the development of the eyes, leading to visual problems while often leaving skin and hair coloring unaffected. Known under the ICD-10 code E70.311, this disorder is inherited in an autosomal recessive manner, meaning a child must inherit two copies of the defective gene—one from each parent—to be affected.
Causes & Symptoms
Clinical Causes: Genetic mutations affecting melanin production pathways in the eye Inheritance pattern: Autosomal recessive, requiring two copies of the mutated gene for the condition to manifest Mutations in specific genes responsible for eye pigmentation and development, such as the GPR143 gene
Key Symptoms: Significantly reduced pigmentation in the iris which may give the eyes a light blue or grey appearance Nystagmus — rapid, involuntary eye movements Photophobia — sensitivity to bright light Decreased visual acuity or blurred vision Possible strabismus, where the eyes do not align properly Reduced or absent pigmentation in the choroid and retina can affect visual clarity
Diagnostic & Treatment
Diagnosis Path: The diagnosis of autosomal recessive ocular albinism involves a combination of clinical examinations and genetic testing. Eye specialists may perform visual acuity assessments, slit-lamp examinations, and funduscopy to observe pigmentation levels and ocular structures. Genetic testing can confirm mutations in specific genes associated with this condition, especially when a family history is present. Sometimes, these evaluations are complemented by additional imaging or electrophysiological tests to assess retinal function.
Treatment Protocols: Corrective lenses or glasses to optimize visual acuity Magnification devices and low vision aids to assist with reading and daily tasks Use of tinted lenses or sunglasses to reduce light sensitivity Regular eye examinations for monitoring and managing associated issues like strabismus Patient education about visual limitations and safety precautions
Clinical Advice & FAQs
Billing Guidance
Is E70.311 a billable ICD-10 code?
Yes, E70.311 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E70.311?
Clinical documentation must specify the nature of Autosomal recessive ocular albinism and any associated comorbidities for accurate reporting.
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