Congenital stromal corneal dystrophy
Summary
Excerpted from the GeneReview:Congenital stromal corneal dystrophy is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. The surface of the cornea is normal or slightly irregular; small opacities are seen throughout the stroma of the entire cornea and give the cornea a cloudy appearance. Strabismus is common. Nystagmus is uncommon. Amblyopia can develop in children.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Eyvind Rødahl
- Per M Knappskog
- Cecilie Bredrup
- view full author information
Available tests
14 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (14 available)
Clinical features
Help- Abnormality of the eye
- Band-shaped corneal dystrophy
Band-shaped corneal dystrophy
- MedGen UID: 1002866
- Concept ID: CN323271
- Finding: Finding
Abnormality of the eye
- Corneal dystrophy
Corneal dystrophy
- MedGen UID: 3619
- Concept ID: C0010036
- Finding: Disease or Syndrome
Abnormality of the eye
- Corneal erosion
Corneal erosion
- MedGen UID: 97882
- Concept ID: C0392163
- Finding: Disease or Syndrome
Abnormality of the eye
- Glaucoma
Glaucoma
- MedGen UID: 42224
- Concept ID: C0017601
- Finding: Disease or Syndrome
Abnormality of the eye
- Increased corneal thickness
Increased corneal thickness
- MedGen UID: 816781
- Concept ID: C3810451
- Finding: Finding
Abnormality of the eye
- Progressive visual loss
Progressive visual loss
- MedGen UID: 326867
- Concept ID: C1839364
- Finding: Finding
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Band-shaped corneal dystrophy
- Abnormality of the nervous system
- Photophobia
Photophobia
- MedGen UID: 43220
- Concept ID: C0085636
- Finding: Sign or Symptom
Abnormality of the nervous system
- Photophobia
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