Foveal hypoplasia in parents of patients with albinism

References

• Montoliu L, Grønskov K, Wei A-H, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, et al. Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res. 2014;27(1):11–18. doi:10.1111/pcmr.12167.
   PubMed Web of Science ®Google Scholar
• Oki R, Yamada K, Nakano S, Kimoto K, Yamamoto K, Kondo H, Kubota T. A Japanese family with autosomal dominant oculocutaneous albinism type 4. Invest Ophthalmol Vis Sci. 2017;58(2):1008–16. doi:10.1167/iovs.16-20612.
   PubMed Web of Science ®Google Scholar
• Thomas MG, Kumar A, Mohammad S, Proudlock FA, Engle EC, Andrews C, Chan W-M, Thomas S, Gottlob I. Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology. 2011;118(8):1653–60. doi:10.1016/j.ophtha.2011.01.028.
   PubMed Web of Science ®Google Scholar
• Kaidonis G, Silva RA, Sanislo SR, Leng T. The superficial and deep retinal capillary plexus in cases of fovea plana imaged by spectral-domain optical coherence tomography angiography. Am J Ophthalmol Case Rep. 2017;6:41–44. doi:10.1016/j.ajoc.2016.09.007.
   PubMedGoogle Scholar
• Kruijt CC, de WitGC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM, de Wit GC. The phenotypic spectrum of albinism. Ophthalmology. 12:1953–60. Published online Aug 8, 2018. doi:10.1016/j.ophtha.2018.08.003.
   PubMed Web of Science ®Google Scholar
• Noval S, Freedman SF, Asrani S, El-Dairi MA. Incidence of fovea plana in normal children. J Aapos. 2014;18(5):471–75. doi:10.1016/j.jaapos.2014.07.157.
   PubMed Web of Science ®Google Scholar
• Kuht HJ, Thomas MG, McLean RJ, Sheth V, Proudlock FA, Gottlob I. Abnormal foveal morphology in carriers of oculocutaneous albinism. Br J Ophthalmol. Published online April 4, 2022. doi:10.1136/bjophthalmol-2020-318192
   Web of Science ®Google Scholar
• Samara WA, Say EAT, Khoo CTL, Higgins TP, Magrath G, Ferenczy S, Shields CL. Correlation of foveal avascular zone size with foveal morphology in normal eyes using optical coherence tomography angiography. Retina. 2015;35(11):2188–95. doi:10.1097/IAE.0000000000000847.
   PubMed Web of Science ®Google Scholar
• Hendrickson A, Possin D, Vajzovic L, Toth CA. Histologic development of the human fovea from midgestation to maturity. Am J Ophthalmol. 2012;154(5):767–78.e2. doi:10.1016/j.ajo.2012.05.007.
   PubMed Web of Science ®Google Scholar
• Wilson HR, Mets MB, Nagy SE, Kressel AB. Albino spatial vision as an instance of arrested visual development. Vision Res. 1988;28(9):979–90. doi:10.1016/0042-6989(88)90075-2.
   PubMed Web of Science ®Google Scholar
• Bringmann A, Syrbe S, Görner K, Kacza J, Francke M, Wiedemann P, Reichenbach A. The primate fovea: structure, function and development. Prog Retin Eye Res. 2018;66:49–84. doi:10.1016/j.preteyeres.2018.03.006.
   PubMed Web of Science ®Google Scholar
• Provis JM, Dubis AM, Maddess T, Carroll J. Adaptation of the central retina for high acuity vision: cones, the fovea and the avascular zone. Prog Retin Eye Res. 2013;35:63–81. doi:10.1016/j.preteyeres.2013.01.005.
   PubMed Web of Science ®Google Scholar
• Balaratnasingam C, Chae B, Remmer MH, Gomez E, Suzuki M, Engelbert M, Spaide RF. The spatial profile of macular pigments is related to the topological characteristics of the foveal avascular zone. Invest Ophthalmol Vis Sci. 2015;56(13):7859–65. doi:10.1167/iovs.15-17532.
   PubMed Web of Science ®Google Scholar
• Ilia M, Jeffery G. Retinal cell addition and rod production depend on early stages of ocular melanin synthesis. J Comp Neurol. 2000;420(4):437–44. doi:10.1002/(SICI)1096-9861(20000515)420:4<437:AID-CNE3>3.0.CO;2-1.
   PubMed Web of Science ®Google Scholar
• Wilk MA, McAllister JT, Cooper RF, Dubis AM, Patitucci TN, Summerfelt P, Anderson JL, Stepien KE, Costakos DM, TbCooper RF Jr, et al. Relationship between foveal cone specialization and pit morphology in albinism. Invest Ophthalmol Vis Sci. 2014;55(7):4186–98. doi:10.1167/iovs.13-13217.
   PubMed Web of Science ®Google Scholar
• Khan KN, Lord EC, Arno G, Islam F, Carss KJ, Raymond F, Toomes C, Ali M, Inglehearn CF, Webster AR, et al. Detailed retinal imaging in carriers of ocular. Retina. 2018;38(3):620–28. doi:10.1097/IAE.0000000000001570.
   PubMed Web of Science ®Google Scholar
• Hamel CP. Gene discovery and prevalence in inherited retinal dystrophies. C R Biol. 2014;337(3):160–66. doi:10.1016/j.crvi.2013.12.001.
   PubMed Web of Science ®Google Scholar
• Salles MV, Motta FL, Dias da Silva E, Varela Lima Teixeira P, Antunes Costa K, Filippelli-Silva R, Martin R, Pesquero JB, Ferraz Sallum JM. PROM1 gene variations in Brazilian patients with macular dystrophy. Ophthalmic Genet. 2017;38(1):39–42. doi:10.1080/13816810.2016.1275022.
   PubMed Web of Science ®Google Scholar
• Liu S, Xie L, Yue J, Ma T, Peng C, Qiu B, Yang Z, Yang J. Whole-Exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa. Int J Mol Med. 2016;37(6):1528–34. doi:10.3892/ijmm.2016.2551.
   PubMed Web of Science ®Google Scholar
• Arcot Sadagopan K, Battista R, Keep RB, Capasso JE, Levin AV. Autosomal-dominant leber congenital amaurosis caused by a heterozygous CRX mutation in a father and son. Ophthalmic Genet. 2015;36(2):156–59. doi:10.3109/13816810.2013.838273.
   PubMed Web of Science ®Google Scholar
• Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, et al. Next-Generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PLoS One. 2018;13(12):e0207958. doi:10.1371/journal.pone.0207958.
   PubMed Web of Science ®Google Scholar
• Lasseaux E, Plaisant C, Michaud V, Pennamen P, Trimouille A, Gaston L, Monfermé S, Lacombe D, Rooryck C, Morice-Picard F, et al. Molecular characterization of a series of 990 index patients with albinism. Pigment Cell Melanoma Res. 2018;31(4):466–74. doi:10.1111/pcmr.12688.
   PubMed Web of Science ®Google Scholar
• Monfermé S, Lasseaux E, Duncombe-Poulet C, Hamel C, Defoort-Dhellemmes S, Drumare I, Zanlonghi X, Dollfus H, Perdomo Y, Bonneau D, et al. Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene. Br J Ophthalmol. 2019;103(9):1239–47. doi:10.1136/bjophthalmol-2018-312729.
   PubMed Web of Science ®Google Scholar
• Ayala GD, Linderman RE, Valenzuela RK, Woertz EN, Brilliant M, Tarima S, Carroll J. Assessing foveal structure in individuals with TYR R402Q and S192Y hypomorphic alleles. Ophthalmology Sci. 2021;1(4):100077. doi:10.1016/j.xops.2021.100077.
   PubMedGoogle Scholar