Bietti crystalline corneoretinal dystrophy
Findings
No curated finding names Bietti crystalline corneoretinal dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.
Definition from the Mondo Disease Ontology (MONDO:0008865), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Reduced visual acuityHPOHP:0007663
- 9 of 11 reported patients
- Corneal crystalsHPOHP:0000531
- 8 of 11 reported patients
- Frequent (30% to 79% of cases)
- Choriocapillaris atrophyHPOHP:0030491
- Frequent (30% to 79% of cases)
- Chorioretinal atrophyHPOHP:0000533
- Frequent (30% to 79% of cases)
- Constriction of peripheral visual fieldHPOHP:0001133
- Frequent (30% to 79% of cases)
- Decreased light- and dark-adapted electroretinogram amplitudeHPOHP:0000654
- Frequent (30% to 79% of cases)
Show the remaining 9
- Color vision defectHPOHP:0000551
- Occasional (5% to 29% of cases)
- Cystoid macular edemaHPOHP:0011505
- Occasional (5% to 29% of cases)
- Large central visual field defectHPOHP:0001129
- Occasional (5% to 29% of cases)
- Paracentral scotomaHPOHP:0030528
- Occasional (5% to 29% of cases)
- Pigmentary retinopathyHPOHP:0000580
- Occasional (5% to 29% of cases)
- Retinal pigment epithelial mottlingHPOHP:0007814
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYP4V2HGNC:23198
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · Illumina · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: Bietti crystalline corneoretinal dystrophy
- Also called
- BCDBietti crystalline retinopathy