Research & Literature

[Role of SD-OCT in the diagnosis and prognosis of macular hypoplasia in nystagmus patients].

Bouraoui R, Bouladi M, Nefaa F, et al.

Journal francais d'ophtalmologie 2016; (39(3)):272-6.

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.

Schenkel LC, Kerkhof J, Stuart A, et al.

The Journal of molecular diagnostics : JMD 2016; (18(5)):657-667 doi:10.1016/j.jmoldx.2016.04.002.

Five-Year PROSE Treatment for Aniridic Keratopathy.

Kojima T, Hasegawa A, Nakamura T, et al.

Optometry and vision science : official publication of the American Academy of Optometry 2016; (93(10)):1328-1332 doi:10.1097/OPX.0000000000000942.

Prevalence, Incidence, and Risk Factors for the Development of Glaucoma in Patients With Aniridia.

Balekudaru S, Sankaranarayanan N, Agarkar S

Journal of pediatric ophthalmology and strabismus 2017; (54(4)):250-255 doi:10.3928/01913913-20170322-01.

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.

Kalish JM, Doros L, Helman LJ, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2017; (23(13)):e115-e122 doi:10.1158/1078-0432.CCR-17-0710.

Congenital aniridia with cataract: case series.

Wang JD, Zhang JS, Xiong Y, et al.

BMC ophthalmology 2017; (17(1)):115 doi:10.1186/s12886-017-0503-6.

Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels.

Kerkhof J, Schenkel LC, Reilly J, et al.

The Journal of molecular diagnostics : JMD 2017; (19(6)):905-920 doi:10.1016/j.jmoldx.2017.07.004.

Corneal Abnormalities in Congenital Aniridia: Congenital Central Corneal Opacity Versus Aniridia-associated Keratopathy.

Lee HK, Kim MK, Oh JY

American journal of ophthalmology 2018; (185()):75-80 doi:10.1016/j.ajo.2017.10.017.

Implication of non-coding PAX6 mutations in aniridia.

Plaisancié J, Tarilonte M, Ramos P, et al.

Human genetics 2018; (137(10)):831-846 doi:10.1007/s00439-018-1940-x.

Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism.

Bai Z, Kong X

Molecular genetics & genomic medicine 2018; (6(6)):1053-1067 doi:10.1002/mgg3.481.

Spectral-domain optical coherence tomography foveal morphology as a prognostic factor for vision performance in congenital aniridia.

Casas-Llera P, Siverio A, Esquivel G, et al.

European journal of ophthalmology 2020; (30(1)):58-65 doi:10.1177/1120672118818352.

[Congenital aniridia in children].

Bremond-Gignac D

La Revue du praticien 2019; (69(1)):67-70.

LMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndrome.

Marakhonov AV, Vasilyeva TA, Voskresenskaya AA, et al.

Human molecular genetics 2019; (28(19)):3323-3326 doi:10.1093/hmg/ddz168.

Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes.

Boese EA, Tollefson MR, Schnieders MJ, et al.

Current eye research 2020; (45(1)):91-96 doi:10.1080/02713683.2019.1649704.

Detection of BRCA1/2 large genomic rearrangements in breast and ovarian cancer patients: an overview of the current methods.

Concolino P, Capoluongo E

Expert review of molecular diagnostics 2019; (19(9)):795-802 doi:10.1080/14737159.2019.1657011.

Short- and Long-term Results of Glaucoma Valve Implantation for Aniridia-related Glaucoma: A Case Series and Literature Review

Soyugelen Demirok G, Ekşioğlu Ü, Yakın M, et al.

Turkish journal of ophthalmology 2019; (49(4)):183-187 doi:10.4274/tjo.galenos.2019.07348.

Management of Congenital Aniridia-Associated Keratopathy: Long-Term Outcomes from a Tertiary Referral Center.

Yazdanpanah G, Bohm KJ, Hassan OM, et al.

American journal of ophthalmology 2020; (210()):8-18 doi:10.1016/j.ajo.2019.11.003.

The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.

Weiner C, Hecht I, Rotenstreich Y, et al.

Experimental eye research 2020; (193()):107958 doi:10.1016/j.exer.2020.107958.

Bilateral aniridia and congenital ureteral valve: Role of genetic testing.

Shields LBE, Peppas DS, Rosenberg E

Molecular genetics & genomic medicine 2020; (8(4)):e1183 doi:10.1002/mgg3.1183.

Long-term follow-up of a custom-made prosthetic iris device in patients with congenital aniridia.

Figueiredo GB, Snyder ME

Journal of cataract and refractive surgery 2020; (46(6)):879-887 doi:10.1097/j.jcrs.0000000000000175.

Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia.

You B, Zhang X, Xu K, et al.

Molecular vision 2020; (26()):226-234.

Handheld Optical Coherence Tomography in a Young Infant With Albinism and Fovea Plana.

Rufai SR, Lee H, Gottlob I

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2021; (41(2)):e200-e201 doi:10.1097/WNO.0000000000001094.

Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30-year SIOP-RTSG experience.

Hol JA, Jongmans MCJ, Sudour-Bonnange H, et al.

Cancer 2021; (127(4)):628-638 doi:10.1002/cncr.33304.

Normal and abnormal foveal development.

Thomas MG, Papageorgiou E, Kuht HJ, Gottlob I

The British journal of ophthalmology 2022; (106(5)):593-599 doi:10.1136/bjophthalmol-2020-316348.

Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment.

Liu EK, Suson KD

Translational andrology and urology 2020; (9(5)):2370-2381 doi:10.21037/tau.2020.03.27.

A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor.

Lind KT, Cost NG, Zegar K, et al.

Ophthalmic genetics 2021; (42(2)):216-217 doi:10.1080/13816810.2020.1852577.

Crystalline lens alterations in congenital aniridia.

D'Oria F, Barraquer R, Alio JL

Archivos de la Sociedad Espanola de Oftalmologia 2021; doi:10.1016/j.oftal.2020.12.016.

Macular involvement in congenital aniridia.

Casas-Llera P, Ruiz-Casas D, Alió JL

Archivos de la Sociedad Espanola de Oftalmologia 2021; doi:10.1016/j.oftal.2020.11.025.

Outcomes of Glaucoma Drainage Device Implantation and Trabeculectomy With Mitomycin C in Glaucoma Secondary to Aniridia.

Durai I, Pallamparthy S, Puthuran GV, et al.

American journal of ophthalmology 2021; (227()):173-181 doi:10.1016/j.ajo.2021.03.008.

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.

Kit V, Cunha DL, Hagag AM, Moosajee M

JCI insight 2021; (6(14)).

Dysfunction of the limbal epithelial stem cell niche in aniridia-associated keratopathy.

Schlötzer-Schrehardt U, Latta L, Gießl A, et al.

The ocular surface 2021; (21()):160-173 doi:10.1016/j.jtos.2021.06.002.

Genetics and epidemiology of aniridia: Updated guidelines for genetic study.

Blanco-Kelly F, Tarilonte M, Villamar M, et al.

Archivos de la Sociedad Espanola de Oftalmologia 2021; doi:10.1016/j.oftal.2021.02.002.

An attempt to optimize the outcome of penetrating keratoplasty in congenital aniridia-associated keratopathy (AAK).

Farah CJ, Fries FN, Latta L, et al.

International ophthalmology 2021; (41(12)):4091-4098 doi:10.1007/s10792-021-01982-z.

Decreased FABP5 and DSG1 protein expression following PAX6 knockdown of differentiated human limbal epithelial cells.

Katiyar P, Stachon T, Fries FN, et al.

Experimental eye research 2022; (215()):108904 doi:10.1016/j.exer.2021.108904.

Clinical outcomes and visual prognostic factors in congenital aniridia.

Jacobson A, Mian SI, Bohnsack BL

BMC ophthalmology 2022; (22(1)):235 doi:10.1186/s12886-022-02460-5.

A rare case of congenital aniridia with an unusual run-on mutation in PAX6 gene.

Ratna R, Tibrewal S, Gour A, et al.

Indian journal of ophthalmology 2022; (70(7)):2661-2664 doi:10.4103/ijo.IJO_433_22.

Rare association of aniridia with congenital aphakia and secondary glaucoma.

Alharbi S, Albishri A, Owaidhah O

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 2021; (35(4)):360-361 doi:10.4103/1319-4534.347313.

[Tumor predisposition syndromes and nephroblastoma : Early diagnosis with imaging].

Welter N, Furtwängler R, Schneider G, et al.

Radiologie (Heidelberg, Germany) 2022; (62(12)):1033-1042 doi:10.1007/s00117-022-01056-w.

Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency.

Kim M, Lee SY, Kim N, et al.

Frontiers in pediatrics 2022; (10()):1022980 doi:10.3389/fped.2022.1022980.

Beneficial Effects of Plasma Rich in Growth Factors (PRGF) Versus Autologous Serum and Topical Insulin in Ocular Surface Cells.

Anitua E, de la Fuente M, Sánchez-Ávila RM, et al.

Current eye research 2023; (48(5)):456-464 doi:10.1080/02713683.2023.2173237.

[Congenital aniridia - Hungarian data of a spectrum disease].

Náray A, Csidey M, Kéki-Kovács K, et al.

Orvosi hetilap 2023; (164(4)):148-155 doi:10.1556/650.2023.32697.

Optical Coherence Tomography Angiography Assessment in Congenital Aniridia.

Dentel A, Ferrari M, Robert MP, et al.

American journal of ophthalmology 2023; (253()):44-48 doi:10.1016/j.ajo.2023.04.004.

[Staging of aniridia-associated keratopathy].

Náray A, Fries FN, Csidey M, et al.

Orvosi hetilap 2023; (164(27)):1063-1069 doi:10.1556/650.2023.32803.

[Congenital aniridia patients' experience on their visual impairment in Hungary.]

Csidey M, Grupcheva C, Stachon T, et al.

Orvosi hetilap 2023; (164(34)):1342-1349 doi:10.1556/650.2023.32845.

Effect of Silica in the Manufacture of Autologous Serum Eye Drops on Corneal Stromal Cells.

Kim S, Lee JE

Cornea 2024; (43(3)):372-377 doi:10.1097/ICO.0000000000003412.

Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.

Marakhonov AV, Vasilyeva TA, Minzhenkova ME, et al.

International journal of molecular sciences 2023; (24(23)) doi:10.3390/ijms242316923.

Relationship between physical and psychological functioning and health-related quality of life in congenital Aniridia.

Landsend ECS, von der Lippe C, Mediå L, et al.

Acta ophthalmologica 2024; (102(5)):590-599 doi:10.1111/aos.16615.

Nystagmus Characteristics in Albinism: Unveiling the Link to Foveal Hypoplasia and Visual Acuity.

Talsma HE, Kruijt CC, de Wit GC, et al.

Investigative ophthalmology & visual science 2023; (64(15)):30 doi:10.1167/iovs.64.15.30.

Secondary Data Analysis of Inflammation-Related mRNAs in Conjunctival Impression Cytology Samples of Aniridia Patients.

Stachon T, Latta L, Fries FN, et al.

Cornea 2024; (43(5)):627-634 doi:10.1097/ICO.0000000000003454.

Five-Year Risk and Safety Profile of Autologous Serum Eye Drop Therapy.

Sanak F, Iselin K, Job O, et al.

Klinische Monatsblatter fur Augenheilkunde 2024; (241(4)):388-391 doi:10.1055/a-2244-6285.

Efficacy and Safety of Plasma Rich in Growth Factor in Patients with Congenital Aniridia and Dry Eye Disease.

Lozano-Sanroma J, Barros A, Alcalde I, et al.

Diseases (Basel, Switzerland) 2024; (12(4)) doi:10.3390/diseases12040076.

[Glaucoma in PAX6-related congenital aniridia: A review of the literature].

Bastelica P, Daruich A, Paganelli B, et al.

Journal francais d'ophtalmologie 2025; (48(1)):104300 doi:10.1016/j.jfo.2024.104300.

Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.

Wang L, Xu Q, Wang W, et al.

Orphanet journal of rare diseases 2024; (19(1)):394 doi:10.1186/s13023-024-03388-3.

A Chromosomal Microarray Detects Microdeletion at Chromosome Locus 11p14.3-p12 Leading to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation (WAGR) Syndrome.

Majjigudda RA, Menon P, Gupte S, et al.

Cureus 2024; (16(10)):e72479 doi:10.7759/cureus.72479.

The Effect of Lens Properties on Visual Acuity, Aniridia Associated Keratopathy and Secondary Glaucoma in Congenital Aniridia Subjects.

Náray A, Fries FN, Munteanu C, et al.

Current eye research 2025; (50(4)):381-393 doi:10.1080/02713683.2024.2438687.

Standardized Assessment of Health-Related Quality of Life in Patients with Congenital Aniridia.

Hoxha Z, Fries FN, Hecker D, et al.

Klinische Monatsblatter fur Augenheilkunde 2025; (242(3)):228-239 doi:10.1055/a-2463-3879.

Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.

Hall J, Corton M, Fries FN, et al.

Ophthalmology and therapy 2025; (14(5)):835-856 doi:10.1007/s40123-025-01122-1.

Outcomes of Trabeculectomy and Glaucoma Drainage Device Surgery in Congenital Aniridia-Associated Glaucoma: A Systematic Review and Meta-Analysis.

Tóth G, Liu S, Li S, et al.

Ophthalmology and therapy 2025; (14(10)):2323-2343 doi:10.1007/s40123-025-01215-x.

Ahmed Glaucoma Valve in Aniridia.

Ahmed AA, Netland PA

Clinical ophthalmology (Auckland, N.Z.) 2025; (19()):2487-2493 doi:10.2147/OPTH.S531997.

Congenital aniridia: European COST action ANIRIDIA-NET guidelines for diagnosis, management and care.

Romano D, Romano V, Daruich A, et al.

Acta ophthalmologica 2026; (104(3)):267-279 doi:10.1111/aos.17587.

Treatment of Corneal Epithelium Lesions with Plasma Rich in Growth Factors: A Case Series and Implications.

Ortiz F, Cárcamo S, Souza-Mello V, et al.

Healthcare (Basel, Switzerland) 2025; (13(17)) doi:10.3390/healthcare13172184.

Exploring the human experience of congenital aniridia: A narrative medicine approach.

Ancona C, Marini MG, Minetti F, et al.

European journal of ophthalmology 2026; (36(3)):601-608 doi:10.1177/11206721251407851.

Altered Ocular Surface Temperature in Congenital Aniridia with PAX6 Pathogenic Variants: Impact of Age, Salzmann Nodules and Ocular Surgery.

Németh O, Náray A, Csidey M, et al.

Life (Basel, Switzerland) 2026; (16(2)) doi:10.3390/life16020238.

[Clinical features and genetic analysis for PAX6-associated ocular diseases].

Li YM, Yang LZ, Sui RF

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2026; (62(6)):444-453 doi:10.3760/cma.j.cn112142-20250625-00286.