References
- 1. Korniszewski L. Dziecko z zespołem wad wrodzonych: diagnostyka dysmorfologiczna. Warszawa: PZWL; 2005.
- 2. Gittens A, Gedrich M, Khandelwal M, Fischer R, Germaine P. Isolated presentation of congenital microphthalmia on fetal MRI. Radiol Case Rep 2019;14(9):1069-71. doi: 10.1016/j.radcr.2019.05.002.661266731320963
- 3. Verma AS, Fitzpatric DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis 2007;2:47. doi: 10.1186/1750-1172-2-47.224609818039390
- 4. Benacerraf BR, Bromley BS, Jelin AC. Anophthalmia and Microphthalmia. Am J Obstet Gynecol 2019;221(5):B20-1.10.1016/j.ajog.2019.08.05431679591
- 5. Dharmasena A, Keenan T, Goldacre R, Hall N, Goldacre MJ. Trends over time in the incidence of congenital anophthalmia, microphthalmia and orbital malformation in England: database study. Br J Ophthalmol 2017;101(6):735-9.10.1136/bjophthalmol-2016-30895227601422
- 6. Chambers TM, Agopian AJ, Lewis RA, Langlois PH, Danysh HE, Weber KA, et al. Epidemiology of anophthalmia and microphthalmia: prevalence and patterns in Texas, 1999–2009. Am J Med Genet A 2018;176(9):1810-8.10.1002/ajmg.a.4035230070760
- 7. Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, et al. Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life. Ophthalmic Genet 2022;43(2):172-83.10.1080/13816810.2021.198960035105264
- 8. Schraw JM, Benjamin RH, Scott DA, Brooks BP, Hufnagel RB, McLean SD, et al. A comprehensive assessment of co-occurring birth defects among infants with non-syndromic anophthalmia or microphthalmia. Ophthalmic Epidemiol 2021;28(5):428-35.10.1080/09286586.2020.1862244821463133345678
- 9. Li Y, Hou Z, Ding J, Cui Y, Qin B, Li D. Distinguishing risk factors between congenital anophthalmia and microphthalmia using multivariable logistic regression. Ann Transl Med 2020;8(11):704.10.21037/atm.2019.12.103732733232617324
- 10. Morhart P, Mardin C, Rauh M, Jüngert J, Hammersen J, Kehl S, et al. Maternal SARS-CoV-2 infection during pregnancy: possible impact on the infant. Eur J Pediatr 2022;181(1):413-8.10.1007/s00431-021-04221-w834183634355278
- 11. López-Escobar B, Cano DA, Rojas A, de Felipe B, Palma F, Sánchez-Alcázar JA, et al. The effect of maternal diabetes on the Wnt-PCP pathway during embryogenesis as reflected in the developing mouse eye. Dis Model Mech 2015;8(2):157-68.10.1242/dmm.017723431478125540130
- 12. Dedushi K, Hyseni F, Musa J, Saliaj K, Vokshi V, Guy A, et al. A rare case of anophthalmia without any family history and antenatal risk factors. Radiol Case Rep 2021;16(12):3772-5.10.1016/j.radcr.2021.09.001
- 13. Urban B, Bakunowicz-Łazarczyk A. Microphthalmos with concomitant giant eyball cyst – case report. Acta Ophthalmol 2006;108(7-9):337-9.
- 14. Lima Cunha D, Arno G, Corton M, Moosajee M. The spectrum of PAX6 mutations and genotype-phenotype correlations in the eye. Genes (Basel) 2019;10(12):1050.10.3390/genes10121050
- 15. Modrzejewska M, Lachowicz E, Karczewicz D. Cases of congenital eye malformations in children. Ann Acad Med Stetin 2011;57(1):17-25.
- 16. Nishina S, Kurosaka D, Nishida Y, Kondo H, Kobayashi Y, Azuma N. Survey of microphthalmia in Japan. Jpn J Ophthalmol 2012;56(3):198-202.10.1007/s10384-012-0126-7
- 17. Pedersen HR, Baraas RC, Landsend ECS, Utheim ØA, Utheim TP, Gilson SJ, et al. PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia. Invest Ophthalmol Vis Sci 2020;61(5):14. doi: 10.1167/iovs.61.5.14.
- 18. Churchill AJ, Booth AP, Anwar R, Markham AF. PAX6 is normal in most cases of Peters’ anomaly. Eye (Lond) 1998;12 (Pt 2):299-303.10.1038/eye.1998.69
- 19. Zaidman GW, Flanagan JK, Furey CC. Long-term visual prognosis in children after corneal transplant surgery for Peters anomaly type I. Am J Ophthalmol 2007;144(1):104-8.10.1016/j.ajo.2007.03.058
- 20. Katz B, Enright J, Couch S, Harocopos G, Lee AR. Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst. Ophthalmic Genet 2020;41(6):645-9.10.1080/13816810.2020.1814346
- 21. Brémond-Gignac D. Le glaucome dans l’aniridie. J Fr Ophtalmol 2007;30(2):196-9.10.1016/S0181-5512(07)89576-3
- 22. Mohan V, Sinha RA, Pathak A, Rastogi L, Kumar P, Pal A, et al. Maternal thyroid hormone deficiency affects the fetal neocorticogenesis by reducing the proliferating pool, rate of neurogenesis and indirect neurogenesis. Exp Neurol 2012;237(2):477-88.10.1016/j.expneurol.2012.07.01922892247
- 23. Thompson B, Davidson EA, Liu W, Nebert DW, Bruford EA, Zhao H, et al. Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease. Hum Genet 2021;140(3):381-400.10.1007/s00439-020-02212-9793910732728807
- 24. Ruiters S, de Jong S, Mombaerts I. Bespoke ocular prostheses. Eye (Lond) 2019;33(7):1158-60.10.1038/s41433-019-0385-3670723630837709
- 25. Gore S, Grimaldi G, Mazzone G, Collin R, Savino G, Pagnoni M, et al. Treatment strategies and long-term outcomes in patients with congenital microphthalmia-anophthalmia with cyst. Br J Ophthalmol 2022;bjophthalmol-2020-318089.10.1136/bjophthalmol-2020-31808935101939
- 26. Changal N, Khandekar RB. Eye conformers as socket expanders in children: experience at a Tertiary Eye Hospital in Central Saudi Arabia. Cureus 2021;13(2):e13465.10.7759/cureus.13465798616333777554
- 27. Hou Z, Xian J, Chang Q, Wei W, Li D. Digital evaluation of orbital development after self-inflating hydrogel expansion in Chinese children with congenital microphthalmia. J Plast Reconstr Aesthet Surg 2016;69(5):706-14.10.1016/j.bjps.2016.01.01126923661
- 28. Cui Y, Li Y, Hou Z, Wang Y, Chang Q, Xian J, et al. Management of congenital microphthalmos and anophthalmos with orbital cyst. J AAPOS 2019;23(2):92.e1-92.e6.10.1016/j.jaapos.2018.10.01530928365