Bietti crystalline corneoretinal dystrophy
- Synonyms
- Bietti Crystalline Dystrophy; Bietti tapetoretinal degeneration with marginal corneal dystrophy
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- 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:
- Mauricio Vargas
- Amanda Mitchell
- Paul Yang
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (35 available)
Clinical features
Help- Abnormality of the eye
- Chorioretinal atrophy
Chorioretinal atrophy
- MedGen UID: 884881
- Concept ID: C4048273
- Finding: Disease or Syndrome
Abnormality of the eye
- Constriction of peripheral visual field
Constriction of peripheral visual field
- MedGen UID: 68613
- Concept ID: C0235095
- Finding: Finding
Abnormality of the eye
- Corneal crystals
Corneal crystals
- MedGen UID: 853135
- Concept ID: C1096610
- Finding: Pathologic Function
Abnormality of the eye
- High myopia
High myopia
- MedGen UID: 78759
- Concept ID: C0271183
- Finding: Disease or Syndrome
Abnormality of the eye
- Marginal corneal dystrophy
Marginal corneal dystrophy
- MedGen UID: 870335
- Concept ID: C4024779
- Finding: Disease or Syndrome
Abnormality of the eye
- Paracentral scotoma
Paracentral scotoma
- MedGen UID: 75740
- Concept ID: C0271197
- Finding: Finding
Abnormality of the eye
- Progressive night blindness
Progressive night blindness
- MedGen UID: 870373
- Concept ID: C4024818
- Finding: Finding
Abnormality of the eye
- Progressive visual loss
Progressive visual loss
- MedGen UID: 326867
- Concept ID: C1839364
- Finding: Finding
Abnormality of the eye
- Reduced visual acuity
Reduced visual acuity
- MedGen UID: 65889
- Concept ID: C0234632
- Finding: Finding
Abnormality of the eye
- Retinal degeneration
Retinal degeneration
- MedGen UID: 48432
- Concept ID: C0035304
- Finding: Finding
Abnormality of the eye
- Chorioretinal atrophy
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