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New compound heterozygous CYP4V2 mutations in bietti crystalline corneoretinal dystrophy.
Wang T, Chen Q, Yao X, Kuang L, Gan R, Wang J, Yan X. Wang T, et al. Gene. 2021 Jul 20;790:145698. doi: 10.1016/j.gene.2021.145698. Epub 2021 May 5. Gene. 2021. PMID: 33964374
Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy which is caused by the mutations of CYP4V2, usually progressing to legal blindness by the 5th or 6th decade of life. ...
Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy which is caused by …
Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.
Yin X, Yang L, Chen N, Cui H, Zhao L, Feng L, Li A, Zhang H, Ma Z, Li G. Yin X, et al. Exp Eye Res. 2016 May;146:154-162. doi: 10.1016/j.exer.2016.03.007. Epub 2016 Mar 10. Exp Eye Res. 2016. PMID: 26971461
Bietti crystalline corneoretinal dystrophy (BCD) is an inherited eye disease that is most common in the Chinese. ...
Bietti crystalline corneoretinal dystrophy (BCD) is an inherited eye disease that is most common in the Chinese. …
Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations.
Nakamura M, Lin J, Nishiguchi K, Kondo M, Sugita J, Miyake Y. Nakamura M, et al. Adv Exp Med Biol. 2006;572:49-53. doi: 10.1007/0-387-32442-9_8. Adv Exp Med Biol. 2006. PMID: 17249554
Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive chorioretinal dystrophy characterized by progressive night blindness, tiny, yellowish, glistening retinal crystals, choroidal sclerosis, and crystalline deposits in the peripher …
Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive chorioretinal dystrophy characterized …
Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.
Lin J, Nishiguchi KM, Nakamura M, Dryja TP, Berson EL, Miyake Y. Lin J, et al. J Med Genet. 2005 Jun;42(6):e38. doi: 10.1136/jmg.2004.029066. J Med Genet. 2005. PMID: 15937078 Free PMC article.
BACKGROUND: Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessively inherited disorder characterised by tiny yellowish glittering retinal crystals, choroidal sclerosis, and crystals in the peripheral cornea, associated with progres …
BACKGROUND: Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessively inherited disorder char …
In vivo confocal microscopic findings of 2 patients with Bietti crystalline corneoretinal dystrophy.
Bozkurt B, Ozturk BT, Kerimoglu H, Irkec M, Pekel H. Bozkurt B, et al. Cornea. 2010 May;29(5):590-3. doi: 10.1097/ICO.0b013e3181be22ee. Cornea. 2010. PMID: 20299976
PURPOSE: To describe the clinical and in vivo confocal microscopic findings of the cornea in 2 patients with Bietti crystalline corneoretinal dystrophy using Heidelberg Retina Tomograph II Rostock Cornea Module. ...CONCLUSIONS: In vivo confocal microsc …
PURPOSE: To describe the clinical and in vivo confocal microscopic findings of the cornea in 2 patients with Bietti crystalline …
Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene.
Yokoi Y, Nakazawa M, Mizukoshi S, Sato K, Usui T, Takeuchi K. Yokoi Y, et al. Acta Ophthalmol. 2010 Aug;88(5):607-9. doi: 10.1111/j.1755-3768.2009.01529.x. Epub 2009 Jun 5. Acta Ophthalmol. 2010. PMID: 19508456 Free article.
PURPOSE: We report a patient (Case 1) with Bietti crystalline corneoretinal dystrophy (BCD) associated with previously unknown findings of crystal-like deposits on the anterior and posterior lens capsules. ...
PURPOSE: We report a patient (Case 1) with Bietti crystalline corneoretinal dystrophy (BCD) associated with prev …
Presence of corneal crystals confirms an unusual presentation of Bietti's retinal dystrophy.
Song WK, Clouston P, MacLaren RE. Song WK, et al. Ophthalmic Genet. 2019 Oct;40(5):461-465. doi: 10.1080/13816810.2019.1678176. Epub 2019 Oct 22. Ophthalmic Genet. 2019. PMID: 31638456
Background: Bietti crystalline corneoretinal dystrophy (BCD) (OMIM 210370) is a rare autosomal recessive retinal dystrophy typically characterized by multiple intraretinal crystals over the posterior pole of the retina. ...
Background: Bietti crystalline corneoretinal dystrophy (BCD) (OMIM 210370) is a rare autosomal recessive retinal …
Clinical and molecular findings in three Japanese patients with crystalline retinopathy.
Jin ZB, Ito S, Saito Y, Inoue Y, Yanagi Y, Nao-I N. Jin ZB, et al. Jpn J Ophthalmol. 2006 Sep-Oct;50(5):426-431. doi: 10.1007/s10384-006-0350-0. Jpn J Ophthalmol. 2006. PMID: 17013694
PURPOSE: To identify CYP4V2 mutations in three unrelated Japanese patients with Bietti crystalline corneoretinal dystrophy (BCD). METHODS: The three cases were diagnosed by ophthalmological examinations. ...
PURPOSE: To identify CYP4V2 mutations in three unrelated Japanese patients with Bietti crystalline corneoretinal dys …