Disease Description (Causes and Symptoms)
- Definition: A collective term for various types of malformations that occur when the structures of the eye (cornea, iris, lens, retina, eyelids, optic nerve, etc.) show developmental abnormalities at birth. Causes vary and include genetic abnormalities (single-gene or chromosomal abnormalities), as well as fetal infection, toxic exposure, and metabolic disorders.
- Major causes
- Genetic abnormalities: Autosomal dominant/recessive inheritance, sex chromosome abnormalities, mitochondrial mutations (e.g., Leber hereditary optic neuropathy), etc.
- Chromosomal abnormalities: e.g., trisomy 13, 18, or 21
- Fetal infections: Congenital rubella, congenital toxoplasmosis, etc.
- Fetal exposure: Fetal alcohol syndrome, etc.
- Metabolic abnormalities: Galactosemia, etc.
- Examples of major pathophysiology
- Congenital glaucoma: Incomplete development of the anterior chamber drainage structures (trabecular meshwork and anterior chamber angle) impairs aqueous humor outflow → increased intraocular pressure → corneal enlargement and opacity, optic nerve damage
- Congenital cataract: Lens opacity is present at birth or develops in early infancy → may cause amblyopia due to reduced light transmission
- Congenital aniridia: Defective iris formation (e.g., PAX6-related) → abnormal pupillary response; other ocular abnormalities may also occur
- Leber hereditary optic neuropathy: Acute or chronic decline in central vision, mainly due to mitochondrial inheritance
- Major symptoms
- Decreased visual acuity, visual field impairment, tearing·light avoidance (photophobia), difficulty blinking/opening the eyes (ptosis), pupillary abnormalities (dilation·irregularity), corneal opacity, abnormal eye appearance (such as microphthalmia)
Treatment Methods
- General principles
- Treatment varies depending on the cause and lesion, and early diagnosis and treatment have a decisive effect on prognosis.
- A multidisciplinary approach (ophthalmology, pediatrics, medical genetics, etc.) and genetic counseling are recommended.
- Surgical treatment
- Congenital cataract: Early surgery when necessary (for severe cases, usually within several weeks to several months after birth; the recommended timing varies depending on the clinical situation). Refractive correction (glasses·contact lenses) and amblyopia treatment are essential after surgery.
- Congenital glaucoma: Surgery is the principle of treatment (e.g., goniotomy, trabeculotomy, etc.). Medication is supportive.
- Ptosis: Corrective surgery at a young age (e.g., around 3–4 years of age when there are no complications) is performed when there are functional or cosmetic problems or a risk of amblyopia.
- Strabismus: Eye-position correction surgery combined with amblyopia treatment.
- Medication
- Glaucoma medications: Temporary·supportive (topical beta-blockers, carbonic anhydrase inhibitors, etc.) — caution is required regarding systemic side effects in children.
- When infection·inflammation is the cause, antibiotics·antivirals·anti-inflammatory drugs are used.
- Conservative·rehabilitative treatment
- Amblyopia treatment: Patching therapy, vision training, etc.
- Low-vision aids (low-vision assistive devices, educational support)
- Regular ophthalmic follow-up examinations (visual acuity, intraocular pressure, anterior chamber angle, retinal·optic nerve status)
- Genetic·cancer surveillance
- In some conditions (e.g., aniridia/PAX6-related), when associated with Wilms tumor, pediatric cancer surveillance (such as abdominal ultrasonography) and genetic testing may be considered.
- Prognosis
- Varies depending on the type of lesion and timing of treatment: Some conditions (congenital cataract and glaucoma) may allow preservation of vision with early treatment, whereas optic atrophy·Leber hereditary optic neuropathy and similar conditions are often incurable.
Checklist Before an Outpatient Visit (Including Example Questions)
- Items and documents to prepare
- List of medications currently being taken (including eye drops) (dose·administration time)
- Previous medical records and test results (intraocular pressure, vision tests, fundus photographs, ultrasonography, surgical records, etc.)
- Family history information (similar eye diseases, genetic diseases, early blindness, etc.)
- Birth history (abnormalities during pregnancy·delivery, history of admission to a neonatal intensive care unit), whether the newborn had a congenital infection
- Symptom observation records (when they began, progression pattern, light sensitivity, photos·videos of abnormal eye movements/alignment)
- Points to check before the outpatient visit
- In children, preparation may be needed for the possibility of general anesthesia during examinations·surgery (fasting, consent forms)
- Records of eye-drop administration and responses (whether side effects occurred)
- Example questions (items for the patient/caregiver to write down in advance)
- When did the symptoms begin? Are they progressive?
- Does anyone in the family have a similar eye disease or genetic condition?
- Are you currently taking any medications, or do you have a history of allergies?
Examples of General Questions to Ask the Doctor
- What is the cause of this condition? Is a genetic cause suspected?
- Is surgery necessary right now? What is the timing of surgery and its expected risks?
- What are the expected benefits and side effects of surgery·medication?
- What is the long-term prognosis of this disease? How likely is vision recovery?
- What is the likelihood of passing it on to children (or siblings)? Should genetic testing be performed?
- What precautions should be taken in daily life (exercise·trauma·medications, etc.)?
- What follow-up examinations are needed regularly, and how often should they be performed?
Examples of Condition-Specific Questions
- Regarding congenital glaucoma
- "If intraocular pressure is normalized through surgery, how likely is vision recovery? How likely is repeat surgery after the initial operation?"
- Regarding congenital cataract / aniridia (aniridia·PAX6-related)
- "Do you recommend genetic testing? I am concerned about the risk of Wilms tumor; are pediatric cancer tests (abdominal ultrasonography) or follow-up examinations necessary?"