ophthalmologyОфтальмологияOphthalmology in Russia1816-50952500-0845Ophthalmology10.18008/1816-5095-2023-4-647-655ophthalmology-2233Research ArticleОБЗОРЫREVIEWSГенетическая эпидемиология первичной врожденной глаукомы в мире. Часть IGenetic Epidemiology of Primary Congenital Glaucoma in the World. Part Ihttps://orcid.org/0000-0002-4437-9070ОганезоваЖ. Г.OganezovaZh. G.

Оганезова Жанна Григорьевна кандидат медицинских наук, доцент, доцент кафедры офтальмологии им. акад. А.П. Нестерова, доцент кафедры офтальмогенетики Института ВиДПО

ул. Островитянова, 1, Москва, 117997;

ул. Москворечье, 1, Москва, 115522

Zhanna G. Oganezova PhD, Associate Professor of the Ophthalmology department, Associate Professor of Department of ophthalmogenetics

Ostrovityanov str., 1, Moscow, 117437;

Moskvorechye str., 1, Moscow, 115522

https://orcid.org/0000-0001-7765-3307КадышевВ. В.KadyshevV. V.

Кадышев Виталий Викторович кандидат медицинских наук, доцент, ведущий научный сотрудник лаборатории генетической эпидемиологии, заведующий кафедрой офтальмогенетики, руководитель научно-клинического центра генетики глазных болезней

ул. Москворечье, 1, Москва, 115522

Vitaliy V. Kadyshev PhD, senior researcher of the Genetic epidemiology laboratory, head of the Department of ophthalmogenetics, head of the Research Clinical Center of Genetics of Eye Diseases

Moskvorechye str., 1, Moscow, 115522

https://orcid.org/0000-0002-6495-7173ЕгоровЕ. А.EgorovE. A.

Егоров Евгений Алексеевич доктор медицинских наук, профессор, заведующий кафедрой офтальмологии им. акад. А.П. Нестерова

ул. Островитянова, 1, Москва, 117997

Evgeniy A. Egorov MD, Professor, head of Department of ophthalmology

Ostrovityanov str., 1, Moscow, 117437

ФГАОУ ВО «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» Министерства здравоохранения Российской Федерации; ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияPirogov Russian National Research Medical University; Institute of Higher and Additional Professional Education Research Center for Medical GeneticsRussian FederationФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияInstitute of Higher and Additional Professional Education Research Center for Medical GeneticsRussian FederationФГАОУ ВО «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» Министерства здравоохранения Российской ФедерацииРоссияPirogov Russian National Research Medical UniversityRussian Federation202327122023204647655Copyright © Оганезова Ж.Г., Кадышев В.В., Егоров Е.А., 20232023Оганезова Ж.Г., Кадышев В.В., Егоров Е.А.Oganezova Z.G., Kadyshev V.V., Egorov E.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.ophthalmojournal.com/opht/article/view/2233

Для понимания современной ситуации с генетической эпидемиологией первичной врожденной глаукомы (ПВГ) в мире было проанализировано 87 публикаций из баз данных Pubmed и elibrary, преимущественно за последние 5 лет. В данной публикации представлена первая часть результатов анализа, касающаяся арабских и африканских стран, Турции, США, Бразилии, Австралии и Новой Зеландии. Вторая часть обзора будет посвящена данным по восточной и южной Азии, Западной Европе и России. Наибольшая заболеваемость ПВГ характерна для арабских стран, что связано с наличием значительного числа родственных браков. В большинстве стран среди заболевших ПВГ преобладали мальчики, а процесс чаще был двусторонним. В Австралии преобладают пациентки женского пола. Фенотип ПВГ более тяжелый у пациентов с мутациями CYP1B1 (ранний дебют, двустороннее поражение, большее число операций), чем у пациентов без мутаций, и у пациентов с наличием кровного родства у родителей, чем у детей из неродственных браков. Среди генетических причин ПВГ в разных популяциях наиболее частыми (от 30 до 86 % случаев) в арабских странах, Бразилии, Турции являются мутации в гене CYP1B1. Спектр мутаций разнится в зависимости от региона. В Австралии и Новой Зеландии были идентифицированы биаллельные мутации в генах CYP1B1, CPAMD8 и COL18A1, а также гетерозиготные мутации в генах TEK, FOXC1 и ANGPT1. Мутации в редких генах были обнаружены и у пациентов с ПВГ из Ливана (ANGPT1 (p.K186N), Мавритании (NTF4 (c.601T>G, p.Cys201Gly) и WDR36 (c.2078A>G, p.Asn693Ser)). В США идет изучение влияния гена тромбоспондина (THBS1) на развитие ПВГ. На основании результатов генетико-эпидемиологических исследований могут быть разработаны специфические лечебные, реабилитационные и профилактические программы, что предопределит успех терапии ПВГ у детей, сохранив их зрительные функции.

To understand the current situation with the genetic epidemiology of primary congenital glaucoma (PCG) in the world, as well as to identify genotype-phenotype correlations, 87 publications were analyzed from the Pubmed and elibrary databases, mainly the latest 5 years. This publication presents the first part of the analysis, covering Arab and African countries, Turkey, the USA, Brazil, Australia and New Zealand. The second part of the review, which will be published in early 2024, will focus on data from East and South Asia, Western Europe and Russia. The highest incidence of PCG is typical for Arab countries, which is associated with the presence of a significant number of consanguineous marriages in these countries. In most countries, boys predominated among patients with PCG, and the process was often bilateral. In Australia female patients predominate. The PCG phenotype is more severe in patients with CYP1B1 mutations (early onset, bilateral involvement) than in patients without mutations, and in patients with consanguineous parents than in children from unrelated marriages. Among the genetic causes of PCG in different populations, the most common (from 30 to 86 % of cases) in Arab countries, Brazil and Turkey are mutations in the CYP1B1 gene. The spectrum of mutations varies depending on the region. In Australia and New Zealand, biallelic mutations were identified in the CYP1B1, CPAMD8 and COL18A1 genes, as well as heterozygous mutations in the TEK, FOXC1 and ANGPT1. Mutations in rare genes were also found in patients with PCG from Lebanon (ANGPT1 (p.K186N), Mauritania (NTF4 (c.601T>G, p.Cys201Gly) and WDR36 (c.2078A>G, p.Asn693Ser)). In the USA, the influence of the thrombospondin gene (THBS1) on the development of PCG is being studied. Based on the results of genetic and epidemiological studies, specific treatment, rehabilitation and preventive programs can be developed, which will determine the success of PCG therapy in children, preserving their visual functions.

генетическая эпидемиологияпервичная врожденная глаукомамутацияCYP1B1распространенностьзаболеваемостьинфантильная глаукомаgenetic epidemiologyprimary congenital glaucomamutationCYP1B1prevalenceincidenceinfantile glaucomaReferencesJemmeih S, Malik S, Okashah S, Zayed H. Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review. Ophthalmic Epidemiol. 2022 Feb;29(1):1–12. doi: 10.1080/09286586.2021.1883676.Jemmeih S, Malik S, Okashah S, Zayed H. Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review. Ophthalmic Epidemiol. 2022 Feb;29(1):1–12. doi: 10.1080/09286586.2021.1883676.Badawi AH, Al-Muhaylib AA, Al Owaifeer AM, Al-Essa RS, Al-Shahwan SA. Primary congenital glaucoma: An updated review. Saudi J Ophthalmol. 2019 OctDec;33(4):382–388. doi: 10.1016/j.sjopt.2019.10.002.Badawi AH, Al-Muhaylib AA, Al Owaifeer AM, Al-Essa RS, Al-Shahwan SA. Primary congenital glaucoma: An updated review. Saudi J Ophthalmol. 2019 OctDec;33(4):382–388. doi: 10.1016/j.sjopt.2019.10.002.Badeeb OM, Micheal S, Koenekoop RK, den Hollander AI, Hedrawi MT. CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia. BMC Med Genet. 2014 Sep 28;15:109. doi: 10.1186/s12881-014-0109-2.Badeeb OM, Micheal S, Koenekoop RK, den Hollander AI, Hedrawi MT. CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia. BMC Med Genet. 2014 Sep 28;15:109. doi: 10.1186/s12881-014-0109-2.Malik R, Khandekar R, Boodhna T, Rahbeeni Z, Al Towerki AE, Edward DP, Abu-Amero K. Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program. Saudi J Ophthalmol. 2017 Oct-Dec;31(4):247–249. doi: 10.1016/j.sjopt.2017.08.002.Malik R, Khandekar R, Boodhna T, Rahbeeni Z, Al Towerki AE, Edward DP, AbuAmero K. Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program. Saudi J Ophthalmol. 2017 Oct-Dec;31(4):247–249. doi: 10.1016/j.sjopt.2017.08.002.Berraho A, Serrou A, Fritez N, El Annas A, Bencherifa F, Gaboun F, Hilal L. Genotype-phenotype correlation in Moroccan patients with primary congenital glaucoma. J Glaucoma. 2015 Apr-May;24(4):297–305. doi: 10.1097/IJG.0b013e31829f99b7.Berraho A, Serrou A, Fritez N, El Annas A, Bencherifa F, Gaboun F, Hilal L. Genotype-phenotype correlation in Moroccan patients with primary congenital glaucoma. J Glaucoma. 2015 Apr-May;24(4):297–305. doi: 10.1097/IJG.0b013e31829f99b7.Yazdani S, Miraftabi A, Pakravan M, Ghahari E, Tousi BK, Sedigh M, Yaseri M, Elahi E. Phenotype and Genotype Correlation in Iranian Primary Congenital Glaucoma Patients. J Glaucoma. 2016 Jan;25(1):33–38. doi: 10.1097/IJG.0000000000000206.Yazdani S, Miraftabi A, Pakravan M, Ghahari E, Tousi BK, Sedigh M, Yaseri M, Elahi E. Phenotype and Genotype Correlation in Iranian Primary Congenital Glaucoma Patients. J Glaucoma. 2016 Jan;25(1):33–38. doi: 10.1097/IJG.0000000000000206.Qashqai M, Suri F, Yaseri M, Elahi E. P.Gly61Glu and P.Arg368His Mutations in CYP1B1 that Cause Congenital Glaucoma may be Relatively Frequent in Certain Regions of Gilan Province, Iran. J Ophthalmic Vis Res. 2018 Oct-Dec;13(4):403–410. doi: 10.4103/jovr.jovr_147_17.Qashqai M, Suri F, Yaseri M, Elahi E. P.Gly61Glu and P.Arg368His Mutations in CYP1B1 that Cause Congenital Glaucoma may be Relatively Frequent in Certain Regions of Gilan Province, Iran. J Ophthalmic Vis Res. 2018 Oct-Dec;13(4):403–410. doi: 10.4103/jovr.jovr_147_17.Heshmati A, Taghizadeh P, Ahmadieh H, Yaseri M, Suri F, Alizadeh M, Dadashzadeh M, Khatami H, Navi MM, Zamanparvar P, Behboudi H, Elahi E. Carrier Status for p.Gly61Glu and p.Arg368His CYP1B1 Mutations Causing Primary Congenital Glaucoma in Iran. J Ophthalmic Vis Res. 2021 Oct 25;16(4):574–581. doi: 10.18502/jovr.v16i4.9747. Erratum in: J Ophthalmic Vis Res. 2022 Apr 29;17(2):311.Heshmati A, Taghizadeh P, Ahmadieh H, Yaseri M, Suri F, Alizadeh M, Dadashzadeh M, Khatami H, Navi MM, Zamanparvar P, Behboudi H, Elahi E. Carrier Status for p.Gly61Glu and p.Arg368His CYP1B1 Mutations Causing Primary Congenital Glaucoma in Iran. J Ophthalmic Vis Res. 2021 Oct 25;16(4):574–581. doi: 10.18502/jovr.v16i4.9747. Erratum in: J Ophthalmic Vis Res. 2022 Apr 29;17(2):311.Emamalizadeh B, Daneshmandpour Y, Kazeminasb S, Aghaei Moghadam E, Bahmanpour Z, Alehabib E, Alinaghi S, Doozandeh A, Atakhorrami M, Darvish H. Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations. Int Ophthalmol. 2021 Oct;41(10):3269–3276. doi: 10.1007/s10792-021-01888-w.Emamalizadeh B, Daneshmandpour Y, Kazeminasb S, Aghaei Moghadam E, Bahmanpour Z, Alehabib E, Alinaghi S, Doozandeh A, Atakhorrami M, Darvish H. Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations. Int Ophthalmol. 2021 Oct;41(10):3269–3276. doi: 10.1007/s10792-021-01888-w.Jubair S, N Al-Rubae’i SH, M Al-Sharifi AN, Jabbar Suleiman AA. Investigation of CYP1B1 Gene Involvement in Primary Congenital Glaucoma in Iraqi Children. Middle East Afr J Ophthalmol. 2020 Jan 29;26(4):203–209. doi: 10.4103/meajo.MEAJO_116_19.Jubair S, N Al-Rubae’i SH, M Al-Sharifi AN, Jabbar Suleiman AA. Investigation of CYP1B1 Gene Involvement in Primary Congenital Glaucoma in Iraqi Children. Middle East Afr J Ophthalmol. 2020 Jan 29;26(4):203–209. doi: 10.4103/meajo.MEAJO_116_19.Mokbel TH, El Hefney EM, Hagras SM, ALNagdy AA, Badawi AE, Kasem MA, El Shaer SM. Childhood glaucoma profile in Dakahelia, Egypt: a retrospective study. Int J Ophthalmol. 2018 Apr 18;11(4):674–680. doi: 10.18240/ijo.2018.04.23.Mokbel TH, El Hefney EM, Hagras SM, ALNagdy AA, Badawi AE, Kasem MA, El Shaer SM. Childhood glaucoma profile in Dakahelia, Egypt: a retrospective study. Int J Ophthalmol. 2018 Apr 18;11(4):674–680. doi: 10.18240/ijo.2018.04.23.Khafagy MM, El-Guendy N, Tantawy MA, Eldaly MA, Elhilali HM, Abdel Wahab AHA. Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma. Int J Ophthalmol. 2019 Apr 18;12(4):607–614. doi: 10.18240/ijo.2019.04.14.Khafagy MM, El-Guendy N, Tantawy MA, Eldaly MA, Elhilali HM, Abdel Wahab AHA. Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma. Int J Ophthalmol. 2019 Apr 18;12(4):607–614. doi: 10.18240/ijo.2019.04.14.El Sayed YM, Elhusseiny AM, Gawdat GI, Esmael AF, Elhilali HM. Childhood glaucoma profile in a tertiary centre in Egypt according to the childhood glaucoma research network classification. PLoS One. 2023 Jan 13;18(1):e0279874. doi: 10.1371/journal.pone.0279874.El Sayed YM, Elhusseiny AM, Gawdat GI, Esmael AF, Elhilali HM. Childhood glaucoma profile in a tertiary centre in Egypt according to the childhood glaucoma research network classification. PLoS One. 2023 Jan 13;18(1):e0279874. doi: 10.1371/journal.pone.0279874.Al-Haddad C, Abdulaal M, Badra R, Barikian A, Noureddine B, Farra C. Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study. Ophthalmic Genet. 2016;37(1):31–36. doi: 10.3109/13816810.2014.924015.Al-Haddad C, Abdulaal M, Badra R, Barikian A, Noureddine B, Farra C. Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study. Ophthalmic Genet. 2016;37(1):31–36. doi: 10.3109/13816810.2014.924015.Makhoul NJ, Wehbi Z, El Hadi D, Noureddine B, Boustany RM, Al-Haddad C. Whole-exome screening for primary congenital glaucoma in Lebanon. Ophthalmic Genet. 2023 Jun;44(3):234–245. doi: 10.1080/13816810.2023.2189949.Makhoul NJ, Wehbi Z, El Hadi D, Noureddine B, Boustany RM, Al-Haddad C. Whole-exome screening for primary congenital glaucoma in Lebanon. Ophthalmic Genet. 2023 Jun;44(3):234–245. doi: 10.1080/13816810.2023.2189949.Bouyacoub Y, Ben Yahia S, Abroug N, Kahloun R, Kefi R, Khairallah M, Abdelhak S. CYP1B1 gene mutations causing primary congenital glaucoma in Tunisia. Ann Hum Genet. 2014 Jul;78(4):255–263. doi: 10.1111/ahg.12069.Bouyacoub Y, Ben Yahia S, Abroug N, Kahloun R, Kefi R, Khairallah M, Abdelhak S. CYP1B1 gene mutations causing primary congenital glaucoma in Tunisia. Ann Hum Genet. 2014 Jul;78(4):255–263. doi: 10.1111/ahg.12069.Hadrami M, Bonnet C, Zeitz C, Veten F, Biya M, Hamed CT, Condroyer C, Wang P, Sidi MM, Cheikh S, Zhang Q, Audo I, Petit C, Houmeida A. Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma. Mol Vis. 2019 Jul 13;25:373–381.Hadrami M, Bonnet C, Zeitz C, Veten F, Biya M, Hamed CT, Condroyer C, Wang P, Sidi MM, Cheikh S, Zhang Q, Audo I, Petit C, Houmeida A. Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma. Mol Vis. 2019 Jul 13;25:373–381.Tamçelik N, Atalay E, Bolukbasi S, Çapar O, Ozkok A. Demographic features of subjects with congenital glaucoma. Indian J Ophthalmol. 2014 May;62(5):565–569. doi: 10.4103/0301-4738.126988.Tamçelik N, Atalay E, Bolukbasi S, Çapar O, Ozkok A. Demographic features of subjects with congenital glaucoma. Indian J Ophthalmol. 2014 May;62(5):565–569. doi: 10.4103/0301-4738.126988.Ava S, Demirtaş AA, Karahan M, Erdem S, Oral D, Keklikçi U. Genetic analysis of patients with primary congenital glaucoma. Int Ophthalmol. 2021 Jul;41(7):2565–2574. doi: 10.1007/s10792-021-01815-z.Ava S, Demirtaş AA, Karahan M, Erdem S, Oral D, Keklikçi U. Genetic analysis of patients with primary congenital glaucoma. Int Ophthalmol. 2021 Jul;41(7):2565–2574. doi: 10.1007/s10792-021-01815-z.Sanou J, Zouré AA, Bakyono BS, Hien-Meda GA, Djimta M, Ouattara AK, Amegnona LJ, Traore DDA, Ahnoux-Zabsonre A, Simpore J. Epidemiology of glaucoma in Burkina Faso: Determination of the prevalence and circulating glaucomatous phenotypes in Ouagadougou. J Fr Ophtalmol. 2022 Nov;45(9):1063–1068. doi: 10.1016/j.jfo.2022.03.006.Sanou J, Zouré AA, Bakyono BS, Hien-Meda GA, Djimta M, Ouattara AK, Amegnona LJ, Traore DDA, Ahnoux-Zabsonre A, Simpore J. Epidemiology of glaucoma in Burkina Faso: Determination of the prevalence and circulating glaucomatous phenotypes in Ouagadougou. J Fr Ophtalmol. 2022 Nov;45(9):1063–1068. doi: 10.1016/j.jfo.2022.03.006.Mdala S, Zungu T, Manda C, Namate C, Fernando E, Twabi HS, Msukwa G, Kayange PC. Profile of primary childhood glaucoma at a child eye health tertiary facility in Malawi. BMC Ophthalmol. 2022 Jan 31;22(1):45. doi: 10.1186/s12886-02202279-0.Mdala S, Zungu T, Manda C, Namate C, Fernando E, Twabi HS, Msukwa G, Kayange PC. Profile of primary childhood glaucoma at a child eye health tertiary facility in Malawi. BMC Ophthalmol. 2022 Jan 31;22(1):45. doi: 10.1186/s12886-02202279-0.Fieß A, Godfrey F, Schuster AK, Bowman R, Philippin H. Referral patterns of children with glaucoma and their caretakers in Northern Tanzania. Int J Ophthalmol. 2020 Mar 18;13(3):452–457. doi: 10.18240/ijo.2020.03.13.Fieß A, Godfrey F, Schuster AK, Bowman R, Philippin H. Referral patterns of children with glaucoma and their caretakers in Northern Tanzania. Int J Ophthalmol. 2020 Mar 18;13(3):452–457. doi: 10.18240/ijo.2020.03.13.Carstens N, Goolam S, Hulley M, Brandenburg JT, Ramsay M, Williams SEI. Exome-based mutation screening in South African children with primary congenital glaucoma. Eye (Lond). 2023 Feb;37(2):362–368. doi: 10.1038/s41433-02201941-7.Carstens N, Goolam S, Hulley M, Brandenburg JT, Ramsay M, Williams SEI. Exome-based mutation screening in South African children with primary congenital glaucoma. Eye (Lond). 2023 Feb;37(2):362–368. doi: 10.1038/s41433-02201941-7.Bouhenni RA, Ricker I, Hertle RW. Prevalence and Clinical Characteristics of Childhood Glaucoma at a Tertiary Care Children’s Hospital. J Glaucoma. 2019 Jul;28(7):655–659. doi: 10.1097/IJG.0000000000001259.Bouhenni RA, Ricker I, Hertle RW. Prevalence and Clinical Characteristics of Childhood Glaucoma at a Tertiary Care Children’s Hospital. J Glaucoma. 2019 Jul;28(7):655–659. doi: 10.1097/IJG.0000000000001259.Hoguet A, Grajewski A, Hodapp E, Chang TC. A retrospective survey of childhood glaucoma prevalence according to Childhood Glaucoma Research Network classification. Indian J Ophthalmol. 2016 Feb;64(2):118–123. doi: 10.4103/03014738.179716.Hoguet A, Grajewski A, Hodapp E, Chang TC. A retrospective survey of child- hood glaucoma prevalence according to Childhood Glaucoma Research Network classification. Indian J Ophthalmol. 2016 Feb;64(2):118–123. doi: 10.4103/03014738.179716.Wiggs JL, Langgurth AM, Allen KF. Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc. 2014 Jul;112:94–102.Wiggs JL, Langgurth AM, Allen KF. Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc. 2014 Jul;112:94–102.Lim SH, Tran-Viet KN, Yanovitch TL, Freedman SF, Klemm T, Call W, Powell C, Ravichandran A, Metlapally R, Nading EB, Rozen S, Young TL. CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. Am J Ophthalmol. 2013 Mar;155(3):508–517.e5. doi: 10.1016/j.ajo.2012.09.012.Lim SH, Tran-Viet KN, Yanovitch TL, Freedman SF, Klemm T, Call W, Powell C, Ravichandran A, Metlapally R, Nading EB, Rozen S, Young TL. CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. Am J Ophthalmol. 2013 Mar;155(3):508–517.e5. doi: 10.1016/j.ajo.2012.09.012.Boese EA, Alward WLM, Kwon YH, Roos BR, Stone EM, Scheetz TE, Fingert JH. Thrombospondin Mutations and Primary Congenital Glaucoma Patients in a United States Population. J Glaucoma. 2023 Jun 16. doi: 10.1097/IJG.0000000000002254.Boese EA, Alward WLM, Kwon YH, Roos BR, Stone EM, Scheetz TE, Fingert JH. Thrombospondin Mutations and Primary Congenital Glaucoma Patients in a United States Population. J Glaucoma. 2023 Jun 16. doi: 10.1097/IJG.0000000000002254.Lopes NL, Gracitelli CPB, Rolim-de-Moura C. Childhood Glaucoma Profile in a Brazilian Tertiary Care Center Using Childhood Glaucoma Research Network Classification. J Glaucoma. 2021 Feb 1;30(2):129–133. doi: 10.1097/IJG.0000000000001712.Lopes NL, Gracitelli CPB, Rolim-de-Moura C. Childhood Glaucoma Profile in a Brazilian Tertiary Care Center Using Childhood Glaucoma Research Network Classification. J Glaucoma. 2021 Feb 1;30(2):129–133. doi: 10.1097/IJG.0000000000001712.Rolim H, Cronemberger S, Rangel H, Batista WD, Bastos-Rodrigues L, De Marco L. The Role of Genetic Ancestry in Brazilian Patients With Primary Congenital Glaucoma. J Glaucoma. 2016 Jan;25(1):e24–28. doi: 10.1097/IJG.0000000000000167.Rolim H, Cronemberger S, Rangel H, Batista WD, Bastos-Rodrigues L, De Marco L. The Role of Genetic Ancestry in Brazilian Patients With Primary Congenital Glaucoma. J Glaucoma. 2016 Jan;25(1):e24–28. doi: 10.1097/IJG.0000000000000167.Haddad A, Ait Boujmia OK, El Maaloum L, Dehbi H. Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients. Eur J Ophthalmol. 2021 Nov;31(6):2796–2807. doi: 10.1177/11206721211016308.Haddad A, Ait Boujmia OK, El Maaloum L, Dehbi H. Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients. Eur J Ophthalmol. 2021 Nov;31(6):2796–2807. doi: 10.1177/11206721211016308.Coêlho REA, Sena DR, Santa Cruz F, Moura BCFS, Han CC, Andrade FN, Lira RPC. CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma. J Glaucoma. 2019 Feb;28(2):161–164. doi: 10.1097/IJG.0000000000001132.Coêlho REA, Sena DR, Santa Cruz F, Moura BCFS, Han CC, Andrade FN, Lira RPC. CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma. J Glaucoma. 2019 Feb;28(2):161–164. doi: 10.1097/IJG.0000000000001132.de Melo MB, Mandal AK, Tavares IM, Ali MH, Kabra M, de Vasconcellos JP, Senthil S, Sallum JM, Kaur I, Betinjane AJ, Moura CR, Paula JS, Costa KA, Sarfarazi M, Paolera MD, Finzi S, Ferraz VE, Costa VP, Belfort R Jr, Chakrabarti S. GenotypePhenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil. PLoS One. 2015 May 15;10(5):e0127147. doi: 10.1371/journal.pone.0127147.de Melo MB, Mandal AK, Tavares IM, Ali MH, Kabra M, de Vasconcellos JP, Senthil S, Sallum JM, Kaur I, Betinjane AJ, Moura CR, Paula JS, Costa KA, Sarfarazi M, Paolera MD, Finzi S, Ferraz VE, Costa VP, Belfort R Jr, Chakrabarti S. GenotypePhenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil. PLoS One. 2015 May 15;10(5):e0127147. doi: 10.1371/journal.pone.0127147.Knight LSW, Ruddle JB, Taranath DA, Goldberg I, Smith JEH, Gole G, Chiang MY, Willett F, D’Mellow G, Breen J, Qassim A, Mullany S, Elder JE, Vincent AL, Staffieri SE, Kearns LS, Mackey DA, Luu S, Siggs OM, Souzeau E, Craig JE. Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry. Ophthalmology. 2021 Nov;128(11):1549–1560. doi: 10.1016/j.ophtha.2021.04.016.Knight LSW, Ruddle JB, Taranath DA, Goldberg I, Smith JEH, Gole G, Chiang MY, Willett F, D’Mellow G, Breen J, Qassim A, Mullany S, Elder JE, Vincent AL, Staffieri SE, Kearns LS, Mackey DA, Luu S, Siggs OM, Souzeau E, Craig JE. Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry. Ophthalmology. 2021 Nov;128(11):1549–1560. doi: 10.1016/j.ophtha.2021.04.016.MacKinnon JR, Giubilato A, Elder JE, Craig JE, Mackey DA. Primary infantile glaucoma in an Australian population. Clin Exp Ophthalmol. 2004 Feb;32(1):14–18. doi: 10.1046/j.1442-9071.2004.00750.x.MacKinnon JR, Giubilato A, Elder JE, Craig JE, Mackey DA. Primary infantile glaucoma in an Australian population. Clin Exp Ophthalmol. 2004 Feb;32(1):14–18. doi: 10.1046/j.1442-9071.2004.00750.x.Souzeau E, Dubowsky A, Ruddle JB, Craig JE. Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion. Mol Genet Genomic Med. 2019 Aug;7(8):e774. doi: 10.1002/mgg3.774.Souzeau E, Dubowsky A, Ruddle JB, Craig JE. Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion. Mol Genet Genomic Med. 2019 Aug;7(8):e774. doi: 10.1002/mgg3.774.Young TL, Whisenhunt KN, Jin J, LaMartina SM, Martin SM, Souma T, Limviphuvadh V, Suri F, Souzeau E, Zhang X, Dan Y, Anagnos E, Carmona S, Jody NM, Stangel N, Higuchi EC, Huang SJ, Siggs OM, Simões MJ, Lawson BM, Martin JS, Elahi E, Narooie-Nejad M, Motlagh BF, Quaggin SE, Potter HD, Silva ED, Craig JE, Egas C, Maroofian R, Maurer-Stroh S, Bradfield YS, Tompson SW. SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma. Invest Ophthalmol Vis Sci. 2020 Oct 1;61(12):6. doi: 10.1167/iovs.61.12.6.Young TL, Whisenhunt KN, Jin J, LaMartina SM, Martin SM, Souma T, Limviphuvadh V, Suri F, Souzeau E, Zhang X, Dan Y, Anagnos E, Carmona S, Jody NM, Stangel N, Higuchi EC, Huang SJ, Siggs OM, Simões MJ, Lawson BM, Martin JS, Elahi E, Narooie-Nejad M, Motlagh BF, Quaggin SE, Potter HD, Silva ED, Craig JE, Egas C, Maroofian R, Maurer-Stroh S, Bradfield YS, Tompson SW. SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma. Invest Ophthalmol Vis Sci. 2020 Oct 1;61(12):6. doi: 10.1167/iovs.61.12.6.

The authors declare that there are no conflicts of interest present.