Bietti crystalline dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: BIETTI TAPETORETINAL DEGENERATION WITH MARGINAL CORNEAL DYSTROPHY
BCD
Bietti crystalline corneoretinal dystrophy
Bietti crystalline retinopathy
Number of Symptoms 12
OrphanetNr: 41751
OMIM Id: 210370
ICD-10: H15.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
25276414 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial flecked retinopathy
 -Rare eye disease
 -Rare genetic disease

Comment:

The crystalline deposits in the eyes of BCD patients are mainly located on the inner surface of the RPE (retinal pigment epithelium) layer. Electron microscopy confirmed the presence of crystalline materials in circulating lymphocytes and skin fibroblasts (PMID:25276414).

Symptom Information: Sort by abundance 

1
(HPO:0007675) Progressive night blindness 25276414 IBIS 4 / 7739
2
(HPO:0000531) Corneal crystals 25276414 IBIS 9 / 7739
3
(HPO:0000575) Scotoma 24739949 IBIS 11 / 7739
4
(HPO:0007703) Abnormality of retinal pigmentation 25276414 IBIS 21 / 7739
5
(HPO:0000533) Chorioretinal atrophy 25505979 IBIS 24 / 7739
6
(HPO:0000546) Retinal degeneration 25276414 IBIS 61 / 7739
7
(HPO:0001133) Constriction of peripheral visual field 25276414 IBIS 33 / 7739
8
(HPO:0007880) Marginal corneal dystrophy 25276414 IBIS 1 / 7739
9
(HPO:0001871) Abnormality of blood and blood-forming tissues 25276414 IBIS 37 / 7739
10
(HPO:0003119) Abnormality of lipid metabolism 25276414 IBIS 60 / 7739
11
(OMIM) Glistening intraretinal fundal dots 25276414 IBIS 1 / 7739
12
(OMIM) Lymphocyte inclusions 25276414 IBIS 1 / 7739

Associated genes:

CYP4V2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Crystalline retinopathy is a retinal degeneration characterized by innumerable glistening intraretinal dots scattered over the fundus, with degeneration of the retina, sclerosis of the choroidal vessels, progressive night blindness, and constriction of the visual fields. It is a ...
Molecular genetics OMIM In 23 of 25 unrelated patients with BCD, Li et al. (2004) identified 13 mutations in the CYP4V2 gene (see 608614.0001-608614.0005).
Population genetics OMIM Although patients with BCD have been reported from most parts of the world, the disorder appears to be most common in East Asia, especially in Chinese and Japanese populations. From the frequency of first-cousin parents in his series ...
Diagnosis GeneReviews The diagnosis of Bietti crystalline dystrophy (BCD), a chorioretinal degeneration, is based on the clinical findings of the typical crystalline deposits in the cornea and retina. BCD is one of few ocular diseases for which the diagnosis can be made with a high degree of confidence by careful examination alone. The diagnosis can be confirmed by the finding of disease-associated mutations in CYP4V2....
Clinical Description GeneReviews Bietti crystalline dystrophy (BCD) is a progressive chorioretinal degeneration with onset typically during second to third decade of life, but ranging from the early teenage years to beyond the third decade. The symptoms, ranges of visual impairment, and disabilities are similar to those of individuals with autosomal recessive retinitis pigmentosa. ...
Genotype-Phenotype Correlations GeneReviews Individuals with BCD who are homozygous for the c.800-1_8delTCATACAG_800_808delGTCATCGCGinsGC allele or compound heterozygous for this allele along with c.1091-1A>G appear to have a more severe form of the disease based on electrophysiologic testing. The level of visual loss in BCD is related to the severity of retinal thinning [Lai et al 2007]....
Differential Diagnosis GeneReviews Retinitis pigmentosa. The clinical symptoms and findings on visual field testing and electrophysiologic studies in Bietti crystalline dystrophy (BCD) are similar to those of other forms of retinal degeneration that fall under the category of retinitis pigmentosa and allied disorders. See Retinitis Pigmentosa Overview. ...
Management GeneReviews To establish the extent of disease and needs of an individual diagnosed with Bietti crystalline dystrophy (BCD), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....