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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
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: CYP4V2
Cytogenetic location: 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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Krystle A Okialda  |  Niamh B Stover  |  Richard G Weleber, et. al.   view full author information

Additional description

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

Constricted visual fields
MedGen UID:
68613
Concept ID:
C0235095
Finding
Retinal degeneration
MedGen UID:
504488
Concept ID:
CN000512
Finding
A deterioration of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Choroidal sclerosis
MedGen UID:
504749
Concept ID:
CN001082
Finding
Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines.
Progressive night blindness
MedGen UID:
425928
Concept ID:
CN006729
Finding
Marginal corneal dystrophy
MedGen UID:
428754
Concept ID:
CN006919
Finding
Abnormality of blood and blood-forming tissues
MedGen UID:
504979
Concept ID:
CN001691
Finding
An abnormality of the hematopoietic system.

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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