2025 ICD-10-CM code E70.31
(Active) Effective Date: N/A Metabolic disorders - Metabolic disorders (E70-E88) Endocrine, nutritional and metabolic diseases (E00-E89) Feed
Ocular albinism. This condition primarily affects the eyes, reducing pigmentation in the iris and retina.
Medical necessity for services related to ocular albinism is established by the presence of the condition and its associated visual impairments. Services may include ophthalmological evaluations, low vision aids, genetic counseling, and other supportive therapies to address the patient's visual needs.
Diagnosis involves a thorough eye exam, including visual acuity tests, assessment of nystagmus and strabismus, and evaluation of the retina. Genetic testing can confirm the diagnosis and determine the type of OA.
In simple words: Ocular albinism is an eye condition present from birth. It causes less color in the eyes, making them very sensitive to light and affecting vision. It's caused by a gene change that affects how the eyes make color. It doesn't usually change skin or hair color much.The main problems are blurry vision, eyes that move quickly on their own, eyes that don't look in the same direction, and being bothered by bright light.
Ocular albinism (OA) is a genetic condition characterized by reduced pigmentation in the eyes, specifically the iris and retina. This leads to various vision problems, including reduced visual acuity, nystagmus (involuntary eye movements), strabismus (misaligned eyes), and photophobia (light sensitivity). While the skin and hair may be slightly lighter than family members, the primary effects are on the eyes.OA is caused by mutations in the GPR143 gene, which is responsible for melanin production in the eyes. Several types of OA exist, with type 1 being the most common.
Example 1: A newborn male infant is noted to have nystagmus and iris translucency on examination. Subsequent genetic testing reveals a mutation in the GPR143 gene, confirming a diagnosis of ocular albinism., A young child presents with difficulty reading and focusing on objects. Eye examination reveals reduced visual acuity, nystagmus, and strabismus, leading to a diagnosis of ocular albinism., An adult with a lifelong history of poor vision, nystagmus, and light sensitivity is diagnosed with ocular albinism after genetic counseling and testing.
Documentation should include a detailed eye examination report, including findings related to visual acuity, nystagmus, strabismus, iris translucency, and retinal pigmentation. Genetic testing results should also be included to confirm the diagnosis and specify the type of ocular albinism.
- Specialties:Ophthalmology, Genetics, Pediatrics
- Place of Service:Office, Outpatient Hospital, Inpatient Hospital