Bietti crystalline dystrophy
Synonyms: BCD · Bietti crystalline corneoretinal dystrophy · Bietti crystalline retinopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bietti crystalline dystrophy | BCD · Bietti crystalline corneoretinal dystrophy · Bietti crystalline retinopathy |
| fr | Maladie de Bietti | Dystrophie cornéo-rétinienne cristalline de Bietti · Dystrophie cristalline de Bietti · Rétinopathie cristalline de Bietti |
| de | Bietti-Kristalldystrophie | BCD · Bietti`s kristalline Retinopathie |
| es | Distrofia cristalina de Bietti | BCD · Distrofia corneo-retiniana cristalina de Bietti · Retinopatía cristalina de Bietti |
| it | Distrofia del cristallino di Bietti | BCD · Distrofia corneo-retinica del cristallino di Bietti · Retinopatia del cristallino di Bietti |
| nl | Kristallijne dystrofie van Bietti | BCD · Kristallijne corneoretinale dystrofie van Bietti · Kristallijne retinopathie van Bietti |
| pt | Distrofia cristalina de Bietti | BCD |
| pl | Dystrofia krystaliczna Biettiego | BCD · Retinopatia krystaliczna Biettiego |
| cs | Biettiho krystalová dystrofie | BCD · Biettiho krystalová korneoretinální dystrofie · Biettiho krystalová retinopatie |
| uk | Кристалічна дистрофія Бєтті | BCD · Кристалічна дистрофія рогівки та сітківки ока Бєтті · Кристалічна ретинопатія Бєтті |
| zh | 结晶样视网膜色素变性 | Bietti晶体角膜视网膜营养不良 |
| tr | Bietti kristalin distrofi | BCD · Bietti kristalin retinopati · Bietti kristalin korneoretinal distrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 210370 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B61 | NTBT | index | validated |
| MONDO | 0008865 | E | validated | |
| MeSH | C535440 | E | validated | |
| UMLS | C1859486 | E | validated | |
| GARD | 10050 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:717317Rare genetic isolated progressive predominantly chorioretinal disorder
rare genetic diseases - ORPHA:717336Rare genetic isolated progressive predominantly macular disorder
rare genetic diseases - ORPHA:716348Rare isolated progressive predominantly chorioretinal disorder
rare ophthalmic disorders - ORPHA:716432Rare isolated progressive predominantly macular disorder
rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP4V2 | Disease-causing germline mutation(s) in | Assessed | HGNC:23198 | ENSG00000145476 | 608614 | 4q35.1-q35.2 | cytochrome P450 family 4 subfamily V member 2 | 15042513[PMID]_21565171[PMID]_22497028[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
19 annotations · validated 2021-09-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030491 | Choriocapillaris atrophy | |
| HP:0200065 | Chorioretinal degeneration | |
| HP:0001133 | Constriction of peripheral visual field | |
| HP:0007760 | Crystalline corneal dystrophy | |
| HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | |
| HP:0000662 | Nyctalopia | |
| HP:0007722 | Retinal pigment epithelial atrophy | |
| HP:0031528 | Subretinal deposits | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000618 | Blindness | |
| HP:0000603 | Central scotoma | |
| HP:0000551 | Color vision defect | |
| HP:0011505 | Cystoid macular edema | |
| HP:0001129 | Large central visual field defect | |
| HP:0030528 | Paracentral scotoma | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0007814 | Retinal pigment epithelial mottling | |
| HP:0030329 | Retinal thinning | |
| HP:0001141 | Severely reduced visual acuity | |
Annotation source: 31512983[PMID]_34068831[PMID]_22497028[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/41751
- This record as JSON: /data/d/41751.json