References
- Mackey DA, Buttery RG, Wise GM, Denton MJ. Description of X-linked megalocornea with identification of the gene locus. Arch Ophthalmol. 1991;109(6):829–33. doi:https://doi.org/10.1001/archopht.1991.01080060093033.
- Meire FM, Delleman JW. Biometry in X linked megalocornea: pathognomonic findings. Br J Ophthalmol. 1994;78(10):781–85. doi:https://doi.org/10.1136/bjo.78.10.781.
- Chen JD, Mackey D, Fuller H, Serravalle S, Olsson J, Denton MJ. X-linked megalocornea: close linkage to DXS87 and DXS94. Hum Genet. 1989;83(3):292–94. doi:https://doi.org/10.1007/BF00285176.
- Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, et al. X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. Am J Hum Genet. 2012;90(2):247–59. doi:https://doi.org/10.1016/j.ajhg.2011.12.019.
- Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, et al. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum Genet. 2011;130(4):495–504. doi:https://doi.org/10.1007/s00439-011-0968-y.
- Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, Ruddle JB, Ali H, Carnt N, Gardner JC, Hassan H, et al. Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. PLoS One. 2014;9(8):e104163. doi:https://doi.org/10.1371/journal.pone.0104163.
- Pfirrmann T, Emmerich D, Ruokonen P, Quandt D, Buchen R, Fischer-Zirnsak B, Hecht J, Krawitz P, Meyer P, Klopocki E, et al. Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model. Hum Mol Genet. 2015;24(11):3119–32. doi:https://doi.org/10.1093/hmg/ddv063.
- Mangialavori D, Colao E, Carnevali A, Bruzzichessi D, Grillone T, Perrotti N, Iuliano R, Scorcia V. Novel mutation in the CHRDL1 gene detected in patients with megalocornea. Cornea. 2015;34(8):976–79. doi:https://doi.org/10.1097/ICO.0000000000000472.
- Han J, Young JW, Frausto RF, Isenberg SJ, Aldave AJ. X-linked megalocornea associated with the novel CHRDL1 Gene Mutation p. (Pro56Leu*8). Ophthalmic Genet. 2015;36(2):145–48. doi:https://doi.org/10.3109/13816810.2013.837187.
- Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. ACMG laboratory quality assurance committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24. doi:https://doi.org/10.1038/gim.2015.30.
- Ma AS, Grigg JR, Jamieson RV. Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis. Hum Genet. 2019;138(8–9):899–915. doi:https://doi.org/10.1007/s00439-018-1935-7.
- Sowden JC. Molecular and developmental mechanisms of anterior segment dysgenesis. Eye (Lond). 2007;21(10):1310–18. doi:https://doi.org/10.1038/sj.eye.6702852.
- Skuta GL., Sugar J., Ericson ES. Corneal endothelial cell measurements in megalocornea. Arch Ophthalmol. 1983 Jan;101(1):51–53. doi:https://doi.org/10.1001/archopht.1983.01040010053007.
- Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, et al. Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing. Pediatr Res. 2020;87(4):735–39. doi:https://doi.org/10.1038/s41390-019-0611-5.
- Frederiksen AL, Duno M, Welinder LG. Blue cone monochromatism in a female due to skewed X-inactivation. Ophthalmic Genet. 2013;34(1–2):101–04. doi:https://doi.org/10.3109/13816810.2012.726394.
- Fahim AT, Sullivan LS, Bowne SJ, Jones KD, Wheaton DKH, Khan NW, Heckenlively JR, Jayasundera KT, Branham KH, Andrews CA, et al. X-chromosome inactivation is a biomarker of clinical severity in female carriers of RPGR-associated X-linked retinitis pigmentosa. Ophthalmol Retina. 2020;4(5):510–20. doi:https://doi.org/10.1016/j.oret.2019.11.010.