Condition Lookup
Category:
Congenital or Genetic Conditions
Number of Conditions: 6
Amblyopia (Lazy Eye)
Specialty: Ophthalmology
Category: Congenital or Genetic Conditions
Symptoms:
poor vision in one eye; difficulty focusing
Root Cause:
Poor vision in one eye due to developmental issues during childhood.
How it's Diagnosed: videos
Visual acuity tests revealing a difference between eyes.
Treatment:
Patching the stronger eye, corrective lenses, and vision therapy.
Medications:
No medications; patching or atropine drops (to blur vision in the dominant eye).
Prevalence:
How common the health condition is within a specific population.
Affects 2–3% of children; most common cause of vision loss in one eye.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Strabismus, significant refractive error, deprivation (e.g., cataracts).
Prognosis:
The expected outcome or course of the condition over time.
Good if treated early; poor outcomes if untreated.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Permanent vision loss in the affected eye.
Usher Syndrome
Specialty: Ophthalmology
Category: Congenital or Genetic Conditions
Symptoms:
hearing loss; night blindness; peripheral vision loss
Root Cause:
Genetic disorder causing progressive vision and hearing loss.
How it's Diagnosed: videos
Genetic testing, audiology tests, retinal exams.
Treatment:
No cure; hearing aids, cochlear implants, low vision aids.
Medications:
No specific medications; management includes cochlear implants and low-vision aids.
Prevalence:
How common the health condition is within a specific population.
Rare; affects 4–17 per 100,000 people globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal recessive inheritance, consanguineous relationships.
Prognosis:
The expected outcome or course of the condition over time.
Progressive vision and hearing loss; management focuses on slowing progression.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Complete blindness and deafness in advanced stages.
Aniridia
Specialty: Ophthalmology
Category: Congenital or Genetic Conditions
Symptoms:
absence of iris; light sensitivity; blurry vision
Root Cause:
A congenital condition causing partial or complete absence of the iris.
How it's Diagnosed: videos
Clinical observation, genetic testing.
Treatment:
Tinted lenses, manage associated conditions (e.g., glaucoma, cataracts).
Medications:
No specific medications; artificial iris implants and lubricating eye drops for dry eye.
Prevalence:
How common the health condition is within a specific population.
Rare; affects 1 in 50,000–100,000 people worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations in the PAX6 gene.
Prognosis:
The expected outcome or course of the condition over time.
Life-long condition; management can mitigate complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Glaucoma, cataracts, corneal opacification.
Coloboma
Specialty: Ophthalmology
Category: Congenital or Genetic Conditions
Symptoms:
keyhole-shaped defect in iris or retina; vision impairment
Root Cause:
A developmental defect results in gaps in the iris, retina, or optic nerve.
How it's Diagnosed: videos
Eye examination, imaging studies.
Treatment:
Cosmetic contact lenses, surgery in severe cases.
Medications:
No specific medications; supportive treatments such as low-vision aids.
Prevalence:
How common the health condition is within a specific population.
Rare; occurs in about 1 in 10,000 births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Congenital malformations, genetic syndromes.
Prognosis:
The expected outcome or course of the condition over time.
Depends on the extent of the defect; vision can be preserved in mild cases.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Vision impairment, retinal detachment.
Microphthalmia
Specialty: Ophthalmology
Category: Congenital or Genetic Conditions
Symptoms:
abnormally small eyes; vision impairment
Root Cause:
A congenital condition where one or both eyes are underdeveloped.
How it's Diagnosed: videos
Clinical evaluation, imaging.
Treatment:
Prosthetic eyes for cosmetic appearance, low-vision therapy.
Medications:
No specific medications; prosthetic treatments and low-vision aids.
Prevalence:
How common the health condition is within a specific population.
Rare; occurs in approximately 1 in 10,000 births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations, maternal infections during pregnancy (e.g., rubella, toxoplasmosis).
Prognosis:
The expected outcome or course of the condition over time.
Vision depends on the severity; prosthetic eyes are often required for cosmetic purposes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Vision impairment or blindness, associated structural abnormalities.
Leber Congenital Amaurosis
Specialty: Ophthalmology
Category: Congenital or Genetic Conditions
Symptoms:
severe vision loss; blindness at birth
Root Cause:
A genetic disorder severely affects the retina’s ability to detect light.
How it's Diagnosed: videos
Electroretinography, genetic testing.
Treatment:
Gene therapy (Voretigene neparvovec), vision rehabilitation.
Medications:
Gene therapy (e.g., Voretigene neparvovec ).
Prevalence:
How common the health condition is within a specific population.
Rare; affects 2–3 per 100,000 people worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations, autosomal recessive inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Severe vision loss from birth; recent gene therapies have shown promising results.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Nystagmus, light sensitivity, total blindness.