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Bietti crystalline corneoretinal dystrophy(BCD)

MedGen UID:
347895
Concept ID:
C1859486
Disease or Syndrome
Synonyms: BCD; Bietti Crystalline Dystrophy; Bietti tapetoretinal degeneration with marginal corneal dystrophy
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
SNOMED CT: Bietti crystalline retinopathy (312927001); Bietti's crystalline retinopathy (312927001)
 
Gene (location): CYP4V2 (4q35.1-35.2)
OMIM®: 210370
Orphanet: ORPHA41751

Disease characteristics

Excerpted from the GeneReview: Bietti Crystalline Dystrophy
Bietti crystalline dystrophy (BCD) is a chorioretinal degeneration characterized by the presence of yellow-white crystals and/or complex lipid deposits in the retina. Progressive atrophy and degeneration of the retinal pigment epithelium (RPE)/choroid lead to symptoms similar to those of other forms of retinal degeneration that fall under the category of retinitis pigmentosa and allied disorders, namely: reduced visual acuity, poor night vision, abnormal retinal electrophysiology, visual field loss, and often impaired color vision. Marked asymmetry between eyes is common. Onset is typically during the second to third decade of life, but ranges from the early teenage years to beyond the third decade. With time, loss of peripheral visual field, central acuity, or both result in legal blindness in most, if not all, affected individuals. [from GeneReviews]
Authors:
Krystle A Okialda  |  Niamh B Stover  |  Richard G Weleber, et. al.   view full author information

Additional descriptions

From OMIM
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).  http://www.omim.org/entry/210370
From GHR
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.People with Bietti crystalline dystrophy typically begin noticing vision problems in their teens or twenties. They experience a loss of sharp vision (reduction in visual acuity) and difficulty seeing in dim light (night blindness). They usually lose areas of vision (visual field loss), most often side (peripheral) vision. Color vision may also be impaired.The vision problems may worsen at different rates in each eye, and the severity and progression of symptoms varies widely among affected individuals, even within the same family. However, most people with this condition become legally blind by their forties or fifties. Most affected individuals retain some degree of vision, usually in the center of the visual field, although it is typically blurry and cannot be corrected by glasses or contact lenses. Vision impairment that cannot be improved with corrective lenses is called low vision.  http://ghr.nlm.nih.gov/condition/bietti-crystalline-dystrophy

Clinical features

Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)
Generalized contraction of visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
Severe Myopia
MedGen UID:
78759
Concept ID:
C0271183
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
Chorioretinal atrophy
MedGen UID:
99273
Concept ID:
C0521683
Disease or Syndrome
Atrophy of the choroid and retinal layers of the fundus.
Progressive visual loss
MedGen UID:
326867
Concept ID:
C1839364
Finding
A reduction of previously attained ability to see.
Marginal corneal dystrophy
MedGen UID:
870335
Concept ID:
C4024779
Anatomical Abnormality
Progressive night blindness
MedGen UID:
870373
Concept ID:
C4024818
Finding
Abnormality of blood and blood-forming tissues
MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome
Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells and platelets. Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. Other causes include other diseases, side effects of medicines, and a lack of certain nutrients in your diet. Types of blood disorders include. -Platelet disorders, excessive clotting, and bleeding problems, which affect how your blood clots. -Anemia, which happens when your blood does not carry enough oxygen to the rest of your body. -Cancers of the blood, such as leukemia and myeloma. -Eosinophilic disorders, which are problems with one type of white blood cell.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBietti crystalline corneoretinal dystrophy
Follow this link to review classifications for Bietti crystalline corneoretinal dystrophy in Orphanet.

Recent clinical studies

Etiology

Song Y, Mo G, Yin G
Int Ophthalmol 2013 Jun;33(3):269-76. Epub 2012 Dec 14 doi: 10.1007/s10792-012-9686-2. [Epub ahead of print] PMID: 23242590
Wang Y, Guo L, Cai SP, Dai M, Yang Q, Yu W, Yan N, Zhou X, Fu J, Guo X, Han P, Wang J, Liu X
PLoS One 2012;7(5):e33673. Epub 2012 May 31 doi: 10.1371/journal.pone.0033673. PMID: 22693542Free PMC Article
Xiao X, Mai G, Li S, Guo X, Zhang Q
Biochem Biophys Res Commun 2011 Jun 3;409(2):181-6. Epub 2011 May 1 doi: 10.1016/j.bbrc.2011.04.112. [Epub ahead of print] PMID: 21565171
Jiao X, Munier FL, Iwata F, Hayakawa M, Kanai A, Lee J, Schorderet DF, Chen MS, Kaiser-Kupfer M, Hejtmancik JF
Am J Hum Genet 2000 Nov;67(5):1309-13. Epub 2000 Sep 21 doi: 10.1016/S0002-9297(07)62960-7. [Epub ahead of print] PMID: 11001583Free PMC Article

Diagnosis

Bozkurt B, Ozturk BT, Kerimoglu H, Irkec M, Pekel H
Cornea 2010 May;29(5):590-3. doi: 10.1097/ICO.0b013e3181be22ee. PMID: 20299976
Yokoi Y, Nakazawa M, Mizukoshi S, Sato K, Usui T, Takeuchi K
Acta Ophthalmol 2010 Aug;88(5):607-9. Epub 2009 Jun 5 doi: 10.1111/j.1755-3768.2009.01529.x. [Epub ahead of print] PMID: 19508456
Nakamura M, Lin J, Nishiguchi K, Kondo M, Sugita J, Miyake Y
Adv Exp Med Biol 2006;572:49-53. doi: 10.1007/0-387-32442-9_8. PMID: 17249554
Jin ZB, Ito S, Saito Y, Inoue Y, Yanagi Y, Nao-i N
Jpn J Ophthalmol 2006 Sep-Oct;50(5):426-31. doi: 10.1007/s10384-006-0350-0. PMID: 17013694
Lin J, Nishiguchi KM, Nakamura M, Dryja TP, Berson EL, Miyake Y
J Med Genet 2005 Jun;42(6):e38. doi: 10.1136/jmg.2004.029066. PMID: 15937078Free PMC Article

Therapy

Bozkurt B, Ozturk BT, Kerimoglu H, Irkec M, Pekel H
Cornea 2010 May;29(5):590-3. doi: 10.1097/ICO.0b013e3181be22ee. PMID: 20299976

Prognosis

Lin J, Nishiguchi KM, Nakamura M, Dryja TP, Berson EL, Miyake Y
J Med Genet 2005 Jun;42(6):e38. doi: 10.1136/jmg.2004.029066. PMID: 15937078Free PMC Article

Clinical prediction guides

Song Y, Mo G, Yin G
Int Ophthalmol 2013 Jun;33(3):269-76. Epub 2012 Dec 14 doi: 10.1007/s10792-012-9686-2. [Epub ahead of print] PMID: 23242590
Jiao X, Munier FL, Iwata F, Hayakawa M, Kanai A, Lee J, Schorderet DF, Chen MS, Kaiser-Kupfer M, Hejtmancik JF
Am J Hum Genet 2000 Nov;67(5):1309-13. Epub 2000 Sep 21 doi: 10.1016/S0002-9297(07)62960-7. [Epub ahead of print] PMID: 11001583Free PMC Article

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