An Overview of Rare and Unusual Clinical Features of Bietti Crystalline Dystrophy
Medical hypothesis discovery and innovation in ophthalmology,
Vol. 3 No. 2 (2014),
1 June 2014
,
Page 51-56
Abstract
Bietti crystalline dystrophy (BCD) is a rare disease presenting with the appearance of intraretinal crystalline deposits and varying degrees of chorioretinal atrophy commencing at the posterior pole. Within time, intraretinal crystals gradually disappear and chorioretinal atrophy extends beyond the macula even resulting in complete chorioretinal atrophy. Concomitant corneal crystals can be noted in 1/2 - 1/3 of the patients, and the presence of corneal crystals is not a must for establishing the diagnosis. For the past decade, genetic evaluations and newer imaging modalities expand our knowledge about the disease. CYP4V2 gene is found to be the gene responsible for the disease process and new mutations are still being described. Modern imaging modalities, such as a spectral domain optical coherence tomography (SD-OCT) shed light on the anatomic features of the disease. By this, we reiterate the rare and unusual clinical features of BCD.References
- Bietti GB. Uber familiares vorkommen von “Retinitis punctata albescens†(verbunden mit “Dystrophia marginalis cristallinea corneaeâ€), Glitzern des Glasköpers und anderen degenerativen Augenveranderungen. Klin Monatsbl Augenheilkd 1937:99;737–756
-Mataftsi A, Zografos L, Millá E, Secrétan M, Munier FL. Bietti's crystalline corneoretinal dystrophy: a cross-sectional study. Retina. 2004 Jun;24(3):416-26. PMID: 15187665
-Furusato E, Cameron JD, Chan CC. Evolution of cellular inclusions in Bietti's crystalline dystrophy. Ophthalmol Eye Dis. 2010 Mar 9;2010(2):9-15. PMID: 21359135
- Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet. 2004 May;74(5):817-26. PMID: 15042513
- Chan WM, Pang CP, Leung AT, Fan DS, Cheng AC, Lam DS. Bietti crystalline retinopathy affecting all 3 male siblings in a family. Arch Ophthalmol. 2000 Jan;118(1):129-31. PMID: 10636430
- Saatci AO, Yaman A, Oner FH, Ergin MH, Cingil G. Indocyanine green angiography in Bietti's crystalline retinopathy. Can J Ophthalmol. 2002 Oct;37(6):346-51. PMID: 12422917
- Okialda KA, Stover NB, Weleber RG, Kelly EJ. Bietti Crystalline Dystrophy. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. Gene Reviews Seattle (WA): University of Washington, Seattle; 1993-2014.
- Halford S, Liew G, Mackay DS, Sergouniotis PI, Holt R, Broadgate S, Volpi EV, Ocaka L, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR. Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy. Ophthalmology. 2014 Jun;121(6):1174-84. PMID: 24480711
- Lai TY, Ng TK, Tam PO, Yam GH, Ngai JW, Chan WM, Liu DT, Lam DS, Pang CP. Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations. Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5212-20. PMID: 17962476
- Rossi S, Testa F, Li A, YaylacioÄŸlu F, Gesualdo C, Hejtmancik JF, Simonelli F. Clinical and genetic features in Italian Bietti crystalline dystrophy patients. Br J Ophthalmol. 2013 Feb;97(2):174-9. PMID: 23221965
- Wilson DJ, Weleber RG, Klein ML, Welch RB, Green WR. Bietti's crystalline dystrophy. A clinicopathologic correlative study. Arch Ophthalmol. 1989 Feb;107(2):213-21. PMID: 2783846
- Kaiser-Kupfer MI, Chan CC, Markello TC, Crawford MA, Caruso RC, Csaky KG, Guo J, Gahl WA. Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy. Am J Ophthalmol. 1994 Nov 15;118(5):569-82. PMID: 7977570
- Bernauer W, Daicker B. Bietti's corneal-retinal dystrophy. A 16-year progression. Retina. 1992;12(1):18-20. PMID: 1565865
- Oner FH, Saatci AO, Ergin MH, Cingil G. Bietti'nin Kristalin Retinopatisi. 2002:32:244-250.
- Mansour AM, Uwaydat SH, Chan CC. Long-term follow-up in Bietti crystalline dystrophy. Eur J Ophthalmol. 2007 Jul-Aug;17(4):680-2. PMID: 17671952
- Yuzawa M, Mae Y and Matsui M. Bietti's crystalline retinopathy. Ophthalmic Paediatr Genet. 1986 Mar;7(1):9-20. PMID: 3703493
- Ayata A, Tatlipinar S, Unal M, Ersanli D, Bilge AH. Autofluorescence and OCT features of Bietti's crystalline dystrophy. Br J Ophthalmol. 2008 May;92(5):718-20. PMID: 18441184
- Querques G, Quijano C, Bouzitou-Mfoumou R, Soubrane G, Souied EH. In-Vivo visualization of retinal crystals in Bietti's crystalline dystrophy by spectral domain optical coherence tomography. Ophthalmic Surg Lasers Imaging. 2010 Mar 9:1-3. PMID: 20337279
- Pennesi ME, Weleber RG. High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. Retina. 2010 Mar;30(3):531-2. PMID: 20139800
- Kojima H, Otani A, Ogino K, Nakagawa S, Makiyama Y, Kurimoto M, Guo C, Yoshimura N. Outer retinal circular structures in patients with Bietti crystalline retinopathy. Br J Ophthalmol. 2012 Mar;96(3):390-3. PMID: 21803923
- Iriyama A, Aihara Y, Yanagi Y. Outer retinal tubulation in inherited retinal degenerative disease. Retina. 2013 Jul-Aug;33(7):1462-5. PMID: 23538577
- Toto L, Carpineto P, Parodi MB, Di Antonio L, Mastropasqua A, Mastropasqua L. Spectral domain optical coherence tomography and in vivo confocal microscopy imaging of a case of Bietti's crystalline dystrophy. Clin Exp Optom. 2013 Jan;96(1):39-45. PMID: 22908902
- Yin H, Jin C, Fang X, Miao Q, Zhao Y, Chen Z, Su Z, Ye P, Wang Y, Yin J. Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy. PLoS One. 2014 Apr 16;9(4):e94960. PMID: 24739949
- Padhi TR, Kesarwani S, Jalali S. Bietti crystalline retinal dystrophy with subfoveal neurosensory detachment and congenital tortuosity of retinal vessels: case report. Doc Ophthalmol. 2011 Jun;122(3):199-206. PMID: 21611771
- Le Tien V, Atmani K, Querques G, Massamba N, Souied EH. Ranibizumab for subfoveal choroidal neovascularization in Bietti crystalline retinopathy. Eye (Lond). 2010 Nov;24(11):1728-9. PMID: 20798693
- Gupta B, Parvizi S, Mohamed MD. Bietti crystalline dystrophy and choroidal neovascularisation. Int Ophthalmol. 2011 Feb;31(1):59-61. PMID: 20972604
- Nachiappan K, Krishnan T, Madhavan J. Ranibizumab for choroidal neovascular membrane in a rare case of Bietti's crystalline dystrophy: a case report. Indian J Ophthalmol. 2012 May-Jun;60(3):207-9. PMID: 22569382
- Atmaca LS, Muftuoglu O, Atmaca-Sonmez P. Peripapillary choroidal neovascularization in Bietti crystalline retinopathy. Eye (Lond). 2007 Jun;21(6):839-42. PMID: 17173010
- Bagolini B, Ioli-Spada G. Bietti's tapetoretinal degeneration with marginal corneal dystrophy. Am J Ophthalmol. 1968 Jan;65(1):53-60. PMID: 5299874
- Saatci AO, Yaman A, Berk AT, Söylev MF. Macular hole formation in Bietti's crystalline retinopathy. A case report. Ophthalmic Genet. 1997 Sep;18(3):139-41. PMID: 9361311
- Saatci AO, Doruk HC, Yaman A. Cystoid macular edema in Bietti's crystalline retinopathy. Case Rep Ophthalmol Med. 2014;2014:964892. PMID: 24949209
- Broadhead GK, Chang AA. Acetazolamide for cystoid macular oedema in Bietti Crystalline Retinal dystrophy. Korean J Ophthalmol. 2014 Apr;28(2):189-91. PMID: 24688265
- Usui T, Tanimoto N, Takagi M, Hasegawa S, Abe H. Rod and cone a-waves in three cases of Bietti crystalline chorioretinal dystrophy. Am J Ophthalmol. 2001 Sep;132(3):395-402. PMID: 11530054
- Sen P, Ray R, Ravi P. Electrophysiological findings in Bietti's crystalline dystrophy. Clin Exp Optom. 2011 May;94(3):302-8. PMID: 21488952
- Welch RB. Bietti's tapetoretinal degeneration with marginal corneal dystrophy crystalline retinopathy. Trans Am Ophthalmol Soc. 1977;75:164-79. PMID: 306693
- Wada Y, Abe T, Shiono T, Tamai M. Specular microscopic findings of corneal deposits in patients with Bietti's crystalline corneal retinal dystrophy. Br J Ophthalmol. 1999 Sep;83(9):1095. PMID: 10636693
- Bozkurt B, Ozturk BT, Kerimoglu H, Irkec M, Pekel H. In vivo confocal microscopic findings of 2 patients with Bietti crystalline corneoretinal dystrophy. Cornea. 2010 May;29(5):590-3. PMID: 20299976
- Abstract Viewed: 2920 times
- Full Text PDF Downloaded: 2613 times