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Review

Brittle cornea syndrome: current perspectives

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Pages 1511-1516 | Published online: 12 Aug 2019

References

  • Orphanet. Orphanet website. 2019; Orphanet. Accessed 2019 February, 28
  • Abu A, Frydman M, Marek D, et al. Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24. Invest Ophthalmol Vis Sci. 2006;47(12):5283–5287. doi:10.1167/iovs.06-0206
  • Zlotogora J, BenEzra D, Cohen T, Cohen E. Syndrome of brittle cornea, blue sclera, and joint hyperextensibility. Am J Med Genet. 1990;36(3):269–272. doi:10.1002/ajmg.1320360303
  • Burkitt Wright EM, Porter LF, Spencer HL, et al. Brittle cornea syndrome: recognition, molecular diagnosis and management. Orphanet J Rare Dis. 2013;8:68. doi:10.1186/1750-1172-8-68
  • Swierkowska J, Gajecka M. Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye. Ophthalmic Genet. 2017;38(6):501–510. doi:10.1080/13816810.2017.1313993
  • Royce PM, Steinmann B, Vogel A, Steinhorst U, Kohlschuetter A. Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation. Eur J Pediatr. 1990;149(7):465–469.
  • Ticho U, Ivry M, Merin S. Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome). Br J Ophthalmol. 1980;64(3):175–177.
  • Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B. Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature. Am J Med Genet A. 2004;124A(1):28–34.
  • Ramappa M, Wilson ME, Rogers RC, Trivedi RH. Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome. J Aapos. 2014;18(5):509–511.
  • Micheal S, Khan MI, Islam F, et al. Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome. Cornea. 2016;35(6):853–859. doi:10.1097/ICO.0000000000000824
  • Khan AO, Aldahmesh MA, Alkuraya FS. Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation. Ophthalmic Genet. 2012;33(4):257–259. doi:10.3109/13816810.2012.670362
  • Burkitt Wright EMM, Spencer HL, Daly SB, et al. Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet. 2011;88(6):767–777. doi:10.1016/j.ajhg.2011.05.007
  • Abu A, Frydman M, Marek D, et al. Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. Am J Hum Genet. 2008;82(5):1217–1222. doi:10.1016/j.ajhg.2008.04.001
  • Christensen AE, Knappskog PM, Midtbo M, et al. Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. Invest Ophthalmol Vis Sci. 2010;51(1):47–52. doi:10.1167/iovs.09-4251
  • Hoehn R, Zeller T, Verhoeven VJ, et al. Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness. Hum Genet. 2012;131(11):1783–1793. doi:10.1007/s00439-012-1201-3
  • Aldahmesh MA, Mohamed JY, Alkuraya FS. A novel mutation in PRDM5 in brittle cornea syndrome. Clin Genet. 2012;81(2):198–199. doi:10.1111/j.1399-0004.2011.01808.x
  • Micheal S, Siddiqui SN, Zafar SN, et al. Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome. Neurogenetics. 2016;17(1):17–23. doi:10.1007/s10048-015-0462-0
  • Vincent AL, Jordan CA, Cadzow MJ, Merriman TR, McGhee CN. Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus. Invest Ophthalmol Vis Sci. 2014;55(9):5629–5635.
  • Lechner J, Porter LF, Rice A, et al. Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. Hum Mol Genet. 2014;23(20):5527–5535. doi:10.1093/hmg/ddu253
  • Davidson AE, Borasio E, Liskova P, et al. Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus. Invest Ophthalmol Vis Sci. 2015;56(1):578–586. doi:10.1167/iovs.14-15792
  • Lucas SEM, Zhou T, Blackburn NB, et al. Rare, potentially pathogenic variants in ZNF469 are not enriched in keratoconus in a large australian cohort of european descent. Invest Ophthalmol Vis Sci. 2017;58(14):6248–6256. doi:10.1167/iovs.17-22417
  • Karolak JA, Gambin T, Rydzanicz M, et al. Evidence against ZNF469 being causative for keratoconus in Polish patients. Acta Ophthalmol. 2016;94(3):289–294. doi:10.1111/aos.12968
  • Lu Y, Dimasi DP, Hysi PG, et al. Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet. 2010;6(5):e1000947. doi:10.1371/journal.pgen.1000947
  • Vithana EN, Aung T, Khor CC, et al. Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet. 2011;20(4):649–658. doi:10.1093/hmg/ddq511
  • Porter LF, Galli GG, Williamson S, et al. A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome. Hum Mol Genet. 2015;24(23):6565–6579. doi:10.1093/hmg/ddv345
  • Porter LF, Gallego-Pinazo R, Keeling CL, et al. Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome. Orphanet J Rare Dis. 2015;10:145. doi:10.1186/s13023-015-0360-4
  • Kadler KE, Hill A, Canty-Laird EG. Collagen fibrillogenesis: fibronectin, integrins, and minor collagens as organizers and nucleators. Curr Opin Cell Biol. 2008;20(5):495–501. doi:10.1016/j.ceb.2008.06.008
  • Al-Owain M, Al-Dosari MS, Sunker A, Shuaib T, Alkuraya FS. Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype. Gene. 2012;511(2):447–450. doi:10.1016/j.gene.2012.09.022
  • Grieve K, Ghoubay D, Georgeon C, et al. Stromal striae: a new insight into corneal physiology and mechanics. Sci Rep. 2017;7(1):13584. doi:10.1038/s41598-017-13194-6
  • Cameron JA. Corneal abnormalities in Ehlers-Danlos syndrome type VI. Cornea. 1993;12(1):54–59.
  • Izquierdo L Jr., Mannis MJ, Marsh PB, Yang SP, McCarthy JM. Bilateral spontaneous corneal rupture in brittle cornea syndrome: a case report. Cornea. 1999;18(5):621–624.
  • Kaufmann C, Schubiger G, Thiel MA. Corneal cross-linking for brittle cornea syndrome. Cornea. 2015;34(10):1326–1328. doi:10.1097/ICO.0000000000000577
  • Muthusamy K, Tuft S. Use of an onlay corneal lamellar graft for brittle cornea syndrome. BMJ Case Rep. 2018;2018.
  • Wan Q, Tang J, Han Y, Xiao Q, Deng Y. Brittle cornea syndrome: a case report and review of the literature. BMC Ophthalmol. 2018;18(1):252. doi:10.1186/s12886-018-0903-2
  • Javadi MA, Kanavi MR, Ahmadi M, Yazdani S. Outcomes of epikeratoplasty for advanced keratoglobus. Cornea. 2007;26(2):154–157. doi:10.1097/01.ico.0000244878.38621.fc
  • Cameron JA, Cotter JB, Risco JM, Alvarez H. Epikeratoplasty for keratoglobus associated with blue sclera. Ophthalmology. 1991;98(4):446–452.
  • Ioscovich A, Grisaru-Granovsky S, Halpern S, Shapiro Y. Peripartum anesthetic management of a patient with brittle cornea syndrome. Arch Gynecol Obstet. 2011;283(Suppl 1):49–52. doi:10.1007/s00404-011-1838-5
  • Natarajan R, Shah GY, Rao SK, Padamanabhan P. Penetrating keratoplasty as a globe-saving procedure in fragile cornea. Cornea. 2003;22(2):164–165.
  • Avgitidou G, Siebelmann S, Bachmann B, Kohlhase J, Heindl LM, Cursiefen C. Brittle cornea syndrome: case report with novel mutation in the PRDM5 gene and review of the literature. Case Rep Ophthalmol Med. 2015;2015:637084.
  • Joshi SA, Uppapalli S, More P, Deshpande M. Unusual case of globe perforation: the brittle cornea without systemic manifestations. BMJ Case Rep. 2016;2016.
  • Lazaridis A, Brouzas D, Sekundo W, et al. Tectonic epikeratoplasty with ethanol-stored donor corneas. Cell Tissue Bank. 2018;19(4):637–644. doi:10.1007/s10561-018-9714-1
  • Macsai MS, Lemley HL, Schwartz T. Management of oculus fragilis in Ehlers-Danlos type VI. Cornea. 2000;19(1):104–107.
  • Hussin HM, Biswas S, Majid M, Haynes R, Tole D. A novel technique to treat traumatic corneal perforation in a case of presumed brittle cornea syndrome. Br J Ophthalmol. 2007;91(3):399. doi:10.1136/bjo.2006.102178
  • Kobashi H, Rong SS. Corneal collagen cross-linking for keratoconus: systematic review. Biomed Res Int. 2017;2017:8145651. doi:10.1155/2017/8145651
  • Caporossi A, Mazzotta C, Baiocchi S, Caporossi T. Long-term results of riboflavin ultraviolet a corneal collagen cross-linking for keratoconus in Italy: the Siena eye cross study. Am J Ophthalmol. 2010;149(4):585–593. doi:10.1016/j.ajo.2009.10.021
  • Caporossi A, Mazzotta C, Baiocchi S, Caporossi T, Denaro R, Balestrazzi A. Riboflavin-UVA-induced corneal collagen cross-linking in pediatric patients. Cornea. 2012;31(3):227–231.
  • Wollensak G. Crosslinking treatment of progressive keratoconus: new hope. Curr Opin Ophthalmol. 2006;17(4):356–360. doi:10.1097/01.icu.0000233954.86723.25
  • Wollensak G, Spoerl E, Seiler T. Riboflavin/ultraviolet-a-induced collagen crosslinking for the treatment of keratoconus. Am J Ophthalmol. 2003;135(5):620–627. doi:10.1016/s0002-9394(02)02220-1