Name of the Condition

• Blepharophimosis, unspecified eye, unspecified lid
• ICD-10 code: H02.529

Summary

Blepharophimosis is a condition characterized by a narrowing of the eye opening due to the limited horizontal and vertical dimensions of the eyelids. This condition can affect one or both eyes and can impact vision if severe.

Causes

• Genetic factors, particularly mutations in the FOXL2 gene, are the primary known cause.
• Can also result from developmental abnormalities or syndromic associations (e.g., blepharophimosis syndrome).

Risk Factors

• Family history of blepharophimosis.
• Certain genetic syndromes.

Symptoms

• Narrowing of the palpebral fissure (eye opening).
• Drooping eyelids (ptosis).
• Reduced peripheral vision due to eyelid malposition.

Diagnosis

• Physical examination evaluating eyelid position, facial structures, and visual function.
• Genetic testing may be indicated to identify underlying genetic causes or syndromes.

Treatment Options

• Surgical correction (blepharoplasty or ptosis surgery) to improve eyelid function and appearance.
• Vision therapy if there are associated vision problems.
• Genetic counseling for affected families.

Prognosis and Follow-Up

• Prognosis varies; early intervention often leads to improved functional and cosmetic outcomes.
• Regular ophthalmologic evaluations to monitor vision development and surgical outcomes.

Complications

• If untreated, can lead to amblyopia (lazy eye) in children.
• Reduced vision due to persistent eyelid abnormalities.

Lifestyle & Prevention

• Although genetic prevention is not possible, genetic counseling can provide families with information on heritability.
• Early ophthalmological assessment and intervention are critical to preventing vision impairment.

When to Seek Professional Help

• Seek medical advice if a child is observed to have unusually narrow eye openings or appears to struggle to open eyes fully.
• Immediate care is recommended if there are signs of vision loss or eye discomfort.

Additional Resources

• National Eye Institute (NEI) nei.nih.gov
• American Academy of Ophthalmology aao.org
• Genetic and Rare Diseases Information Center (GARD) rarediseases.info.nih.gov

Tips for Medical Coders

• Ensure correct specification of the condition affecting an unspecified eye and lid by choosing the appropriate code.
• Avoid coding errors by verifying if additional specification is available regarding the side (right, left, or both) prior to using the unspecified code.