MCID: BTT001
MIFTS: 35

Bietti Crystalline Corneoretinal Dystrophy

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Bietti Crystalline Corneoretinal Dystrophy

MalaCards integrated aliases for Bietti Crystalline Corneoretinal Dystrophy:

Name: Bietti Crystalline Corneoretinal Dystrophy 53 12 23 49 24 55 71 28 13 14 69
Bietti Crystalline Dystrophy 53 23 24 55 71
Bcd 53 49 24 55 71
Bietti Tapetoretinal Degeneration with Marginal Corneal Dystrophy 53 49 24 71
Bietti Crystalline Retinopathy 23 24 55
Bietti's Crystalline Dystrophy 12
Crystalline Retinopathy 71

Characteristics:

Orphanet epidemiological data:

55
bietti crystalline dystrophy
Inheritance: Autosomal recessive;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in second to third decades of life


HPO:

31
bietti crystalline corneoretinal dystrophy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 210370
Disease Ontology 12 DOID:0050664
Orphanet 55 ORPHA41751
MESH via Orphanet 42 C535440
UMLS via Orphanet 70 C1859486
ICD10 via Orphanet 33 H15.5
MedGen 39 C1859486
UMLS 69 C1859486

Summaries for Bietti Crystalline Corneoretinal Dystrophy

OMIM : 53 Bietti crystalline corneoretinal dystrophy is an autosomal recessive retinal dystrophy characterized by numerous tiny glistening yellow-white crystals at the posterior pole of the retina, associated with atrophy of the retinal pigment epithelium (RPE), pigment clumps, and choroidal sclerosis. Most cases have similar crystals at the corneoscleral limbus. The disorder is progressive; most patients develop decreased vision, nyctalopia, and paracentral scotomata between the second and fourth decades of life. Patients later develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the fifth or sixth decade of life. In a series of European patients diagnosed with nonsyndromic retinitis pigmentosa (RP; see 268000), BCD accounted for approximately 3% of all nonsyndromic RP and 10% of nonsyndromic autosomal recessive RP. Histopathology shows advanced panchorioretinal atrophy, with crystals and complex lipid inclusions seen in choroidal fibroblasts, corneal keratocytes, and conjunctival and skin fibroblasts, as well as in circulating lymphocytes, suggesting that BCD may result from a systemic abnormality of lipid metabolism (summary by Li et al., 2004). (210370)

MalaCards based summary : Bietti Crystalline Corneoretinal Dystrophy, also known as bietti crystalline dystrophy, is related to blepharocheilodontic syndrome 1 and choroiditis, and has symptoms including progressive visual loss, abnormality of blood and blood-forming tissues and progressive night blindness. An important gene associated with Bietti Crystalline Corneoretinal Dystrophy is CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2). The drugs Ornithine and Pyridoxine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and skin.

UniProtKB/Swiss-Prot : 71 Bietti crystalline corneoretinal dystrophy: An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life.

NIH Rare Diseases : 49 Bietti crystalline corneoretinal dystrophy is an inheritedeye disease. Symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and loss of visual acuity. Bietti crystalline corneoretinal dystrophy is caused by mutations in the CYP4V2 gene and inherited in an autosomal recessive fashion.  Last updated: 7/5/2011

Genetics Home Reference : 24 Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss.

GeneReviews: NBK91457

Related Diseases for Bietti Crystalline Corneoretinal Dystrophy

Diseases related to Bietti Crystalline Corneoretinal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 blepharocheilodontic syndrome 1 11.9
2 choroiditis 10.4
3 retinitis pigmentosa 10.2
4 leber congenital amaurosis 4 10.2
5 retinitis 10.2
6 retinoschisis 1, x-linked, juvenile 10.1
7 primary hyperoxaluria 10.0
8 eating disorder 9.9
9 dwarfism 9.9
10 hydrops, lactic acidosis, and sideroblastic anemia 9.9
11 macular retinal edema 9.9

Graphical network of the top 20 diseases related to Bietti Crystalline Corneoretinal Dystrophy:



Diseases related to Bietti Crystalline Corneoretinal Dystrophy

Symptoms & Phenotypes for Bietti Crystalline Corneoretinal Dystrophy

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
retinal degeneration
decreased visual acuity, progressive
visual field constriction
high myopia (in some patients)
night blindness, progressive
more
Hematology:
lipid inclusions in lymphocytes


Clinical features from OMIM:

210370

Human phenotypes related to Bietti Crystalline Corneoretinal Dystrophy:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 31 HP:0000529
2 abnormality of blood and blood-forming tissues 31 HP:0001871
3 progressive night blindness 31 HP:0007675
4 retinal degeneration 31 HP:0000546
5 chorioretinal atrophy 31 HP:0000533
6 marginal corneal dystrophy 31 HP:0007880
7 high myopia 31 occasional (7.5%) HP:0011003
8 constriction of peripheral visual field 31 HP:0001133

Drugs & Therapeutics for Bietti Crystalline Corneoretinal Dystrophy

Drugs for Bietti Crystalline Corneoretinal Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ornithine Approved, Nutraceutical 70-26-8, 3184-13-2 6262
2
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
3
Pyridoxal Approved, Nutraceutical 66-72-8 1050
4
Pyridoxal Phosphate Approved, Investigational, Nutraceutical 54-47-7 1051
5 Vitamin B 6
6 arginine Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Genetics of Retinal Degenerations Completed NCT00231010
2 Gyrate Atrophy of the Choroid and Retina Completed NCT00001166

Search NIH Clinical Center for Bietti Crystalline Corneoretinal Dystrophy

Genetic Tests for Bietti Crystalline Corneoretinal Dystrophy

Genetic tests related to Bietti Crystalline Corneoretinal Dystrophy:

# Genetic test Affiliating Genes
1 Bietti Crystalline Corneoretinal Dystrophy 28 CYP4V2

Anatomical Context for Bietti Crystalline Corneoretinal Dystrophy

MalaCards organs/tissues related to Bietti Crystalline Corneoretinal Dystrophy:

38
Retina, Eye, Skin

Publications for Bietti Crystalline Corneoretinal Dystrophy

Articles related to Bietti Crystalline Corneoretinal Dystrophy:

(show all 11)
# Title Authors Year
1
Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy. ( 28051075 )
2017
2
Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy. ( 26971461 )
2016
3
Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients. ( 26085992 )
2015
4
Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. ( 21565171 )
2011
5
Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene. ( 19508456 )
2010
6
In vivo confocal microscopic findings of 2 patients with Bietti crystalline corneoretinal dystrophy. ( 20299976 )
2010
7
Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations. ( 17249554 )
2006
8
Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. ( 15937078 )
2005
9
Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. ( 16179904 )
2005
10
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. ( 15042513 )
2004
11
Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. ( 11001583 )
2000

Variations for Bietti Crystalline Corneoretinal Dystrophy

UniProtKB/Swiss-Prot genetic disease variations for Bietti Crystalline Corneoretinal Dystrophy:

71
# Symbol AA change Variation ID SNP ID
1 CYP4V2 p.Trp44Arg VAR_023084 rs119103282
2 CYP4V2 p.Gly61Ser VAR_023085 rs119103285
3 CYP4V2 p.Glu79Asp VAR_023086 rs199476185
4 CYP4V2 p.Ile111Thr VAR_023087 rs119103283
5 CYP4V2 p.Met123Val VAR_023088 rs149684063
6 CYP4V2 p.His331Pro VAR_023089 rs199476197
7 CYP4V2 p.Ser341Pro VAR_023090 rs199476199
8 CYP4V2 p.Arg508His VAR_023091 rs119103284

ClinVar genetic disease variations for Bietti Crystalline Corneoretinal Dystrophy:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP4V2 NM_207352.3(CYP4V2): c.1020G> A (p.Trp340Ter) single nucleotide variant Pathogenic rs199476198 GRCh37 Chromosome 4, 187126386: 187126386
2 CYP4V2 NM_207352.3(CYP4V2): c.1021T> C (p.Ser341Pro) single nucleotide variant Pathogenic rs199476199 GRCh37 Chromosome 4, 187126387: 187126387
3 CYP4V2 NM_207352.3(CYP4V2): c.1157A> C (p.Lys386Thr) single nucleotide variant Pathogenic rs199476200 GRCh37 Chromosome 4, 187130085: 187130085
4 CYP4V2 NM_207352.3(CYP4V2): c.1169G> A (p.Arg390His) single nucleotide variant Pathogenic rs199476201 GRCh37 Chromosome 4, 187130097: 187130097
5 CYP4V2 NM_207352.3(CYP4V2): c.1187C> T (p.Pro396Leu) single nucleotide variant Pathogenic rs199476202 GRCh37 Chromosome 4, 187130115: 187130115
6 CYP4V2 NM_207352.3(CYP4V2): c.1199G> A (p.Arg400His) single nucleotide variant Pathogenic rs199476203 GRCh37 Chromosome 4, 187130127: 187130127
7 CYP4V2 NM_207352.3(CYP4V2): c.1226-6_1235delTGACAGCAGGTTACAG deletion Pathogenic rs199476184 GRCh37 Chromosome 4, 187130241: 187130256
8 CYP4V2 NM_207352.3(CYP4V2): c.1348C> T (p.Gln450Ter) single nucleotide variant Pathogenic rs199476204 GRCh37 Chromosome 4, 187130369: 187130369
9 CYP4V2 NM_207352.3(CYP4V2): c.1445C> A (p.Ser482Ter) single nucleotide variant Pathogenic rs146494374 GRCh37 Chromosome 4, 187131662: 187131662
10 CYP4V2 NM_207352.3(CYP4V2): c.1526C> T (p.Pro509Leu) single nucleotide variant Pathogenic rs199476205 GRCh37 Chromosome 4, 187131743: 187131743
11 CYP4V2 NM_207352.3(CYP4V2): c.253C> T (p.Arg85Cys) single nucleotide variant Pathogenic rs199476186 GRCh37 Chromosome 4, 187115692: 187115692
12 CYP4V2 NM_207352.3(CYP4V2): c.283G> A (p.Gly95Arg) single nucleotide variant Pathogenic rs199476187 GRCh37 Chromosome 4, 187115722: 187115722
13 CYP4V2 NM_207352.3(CYP4V2): c.327+1G> A single nucleotide variant Pathogenic rs199476182 GRCh37 Chromosome 4, 187115767: 187115767
14 CYP4V2 NM_207352.3(CYP4V2): c.335T> G (p.Leu112Ter) single nucleotide variant Pathogenic rs199476188 GRCh37 Chromosome 4, 187117164: 187117164
15 CYP4V2 NM_207352.3(CYP4V2): c.400G> T (p.Gly134Ter) single nucleotide variant Pathogenic rs199476189 GRCh37 Chromosome 4, 187117229: 187117229
16 CYP4V2 NM_207352.3(CYP4V2): c.518T> G (p.Leu173Trp) single nucleotide variant Pathogenic rs199476190 GRCh37 Chromosome 4, 187118198: 187118198
17 CYP4V2 NM_207352.3(CYP4V2): c.655T> C (p.Tyr219His) single nucleotide variant Pathogenic rs199476191 GRCh37 Chromosome 4, 187118737: 187118737
18 CYP4V2 NM_207352.3(CYP4V2): c.759dupA (p.His254Thrfs) duplication Pathogenic rs199476192 GRCh37 Chromosome 4, 187120195: 187120195
19 CYP4V2 NM_207352.3(CYP4V2): c.761A> G (p.His254Arg) single nucleotide variant Pathogenic rs199476193 GRCh37 Chromosome 4, 187120197: 187120197
20 CYP4V2 NM_207352.3(CYP4V2): c.958C> T (p.Arg320Ter) single nucleotide variant Pathogenic rs199476194 GRCh37 Chromosome 4, 187122467: 187122467
21 CYP4V2 NM_207352.3(CYP4V2): c.971A> T (p.Asp324Val) single nucleotide variant Pathogenic rs199476195 GRCh37 Chromosome 4, 187122480: 187122480
22 CYP4V2 NM_207352.3(CYP4V2): c.974C> T (p.Thr325Ile) single nucleotide variant Pathogenic rs199476196 GRCh37 Chromosome 4, 187122483: 187122483
23 CYP4V2 NM_207352.3(CYP4V2): c.992A> C (p.His331Pro) single nucleotide variant Pathogenic rs199476197 GRCh37 Chromosome 4, 187126358: 187126358
24 CYP4V2 NM_207352.3(CYP4V2): c.1393A> G (p.Arg465Gly) single nucleotide variant Pathogenic rs144109267 GRCh37 Chromosome 4, 187130414: 187130414
25 CYP4V2 NM_207352.3(CYP4V2): c.130T> A (p.Trp44Arg) single nucleotide variant Pathogenic rs119103282 GRCh37 Chromosome 4, 187113107: 187113107
26 CYP4V2 NM_207352.3(CYP4V2): c.332T> C (p.Ile111Thr) single nucleotide variant Pathogenic rs119103283 GRCh37 Chromosome 4, 187117161: 187117161
27 CYP4V2 NM_207352.3(CYP4V2): c.1523G> A (p.Arg508His) single nucleotide variant Pathogenic rs119103284 GRCh37 Chromosome 4, 187131740: 187131740
28 CYP4V2 NM_207352.3(CYP4V2): c.181G> A (p.Gly61Ser) single nucleotide variant Pathogenic rs119103285 GRCh37 Chromosome 4, 187113158: 187113158
29 CYP4V2 NM_207352.3(CYP4V2): c.1091-2A> G single nucleotide variant Pathogenic rs199476183 GRCh37 Chromosome 4, 187130017: 187130017
30 CYP4V2 NM_207352.3(CYP4V2): c.1396A> G (p.Asn466Asp) single nucleotide variant Pathogenic rs797045181 GRCh37 Chromosome 4, 187130417: 187130417

Expression for Bietti Crystalline Corneoretinal Dystrophy

Search GEO for disease gene expression data for Bietti Crystalline Corneoretinal Dystrophy.

Pathways for Bietti Crystalline Corneoretinal Dystrophy

GO Terms for Bietti Crystalline Corneoretinal Dystrophy

Sources for Bietti Crystalline Corneoretinal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
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32 ICD10
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
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42 MESH via Orphanet
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45 NCI
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51 Novoseek
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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