Axenfeld-Rieger Syndrome

Key points at a glance

Axenfeld-Rieger syndrome (ARS) is a congenital anterior segment dysgenesis caused by abnormal neural crest cell migration and differentiation, and shows autosomal dominant inheritance.
The process of disappearance of undifferentiated endothelial cells covering the anterior chamber in late fetal life is impaired, leading to ocular findings such as posterior embryotoxon, iris hypoplasia, and corectopia.
Systemic abnormalities such as dental anomalies, facial bone anomalies, and redundant periumbilical skin may be present, and cataract or lens dislocation may also occur.
Glaucoma is associated in about 50-60% of cases, and early intraocular pressure management directly affects visual prognosis.
The main causative genes are PITX2 (type 1) and FOXC1 (type 3), which together account for 40-70% of all cases.
In FOXC1 mutations, attention should be paid to corneal opacity, neurological abnormalities (white matter lesions), and cardiovascular abnormalities.
Surgery is required when intraocular pressure cannot be controlled with medication. Treatment follows that of primary congenital glaucoma, but surgical success rates are somewhat lower.

1. What is Axenfeld-Rieger Syndrome?

Axenfeld-Rieger syndrome (ARS) is a group of congenital disorders combining anterior segment dysgenesis and systemic abnormalities. The fundamental etiology is thought to be abnormal neural crest cell migration and differentiation. The normal process of disappearance of undifferentiated endothelial cells covering the anterior chamber from the iris and angle in late fetal life is impaired, and their remnants cause strand formation and high iris insertion.

Historical background: In 1920, Axenfeld described posterior embryotoxon (anterior displacement and thickening of Schwalbe’s line) and iris processes. In 1934-1935, Rieger added reports of iris hypoplasia, corectopia, and polycoria. Currently, it is classified into the following three stages:

Axenfeld anomaly: Thickened and anteriorly displaced Schwalbe’s line (posterior embryotoxon) with peripheral iris strands adherent to it.
Rieger anomaly: Additionally, iris stromal hypoplasia with corectopia, ectropion uveae, and pseudopolycoria.
Rieger syndrome (ARS): With systemic abnormalities such as dental anomalies and facial bone anomalies.

These are collectively called Axenfeld-Rieger syndrome. Glaucoma occurs in 50-60% of cases, and it is usually bilateral with autosomal dominant inheritance. Cataract and lens dislocation are also frequently associated.

Epidemiology: The prevalence has been reported as approximately 1 in 200,000, but recent estimates suggest 1 in 50,000 to 100,000 ²⁾⁴⁾. There is no sex predilection, and it is often diagnosed in infancy or early childhood.

Genetic classification is as follows:

ARS type 1

Causative gene: PITX2 (4q25)

Main features: Anterior segment anomalies, dental anomalies, redundant periumbilical skin/umbilical hernia, craniofacial anomalies, cardiovascular anomalies

ARS type 2

Causative gene: 13q14 (not yet identified)

Main features: Anterior segment anomalies, glaucoma. Systemic anomalies are less frequent than in types 1 and 3

ARS type 3

Causative gene: FOXC1 (6p25)

Main features: Anterior segment anomalies, glaucoma, sensorineural hearing loss, atrial septal defect, renal anomalies, white matter lesions

Mutations in FOXC1 and PITX2 account for 40–70% of ARS cases ⁵⁾. However, the causative gene remains unidentified in 60% of ARS cases ⁴⁾, indicating substantial genetic heterogeneity.

In a large registry analysis of childhood- and young adult-onset glaucoma, the molecular diagnostic rate was 56.5% ¹¹⁾. FOXC1 mutations accounted for 20.3%, PITX2 mutations for 17.4%, and PAX6 mutations for 10.1%; a considerable number of cases could not be explained by known genes ¹¹⁾.

Q How are ARS types 1, 2, and 3 distinguished?

They are distinguished by the causative gene. Type 1 is caused by PITX2 (4q25) mutations and is associated with dental, umbilical, and facial bone anomalies. Type 3 is caused by FOXC1 (6p25) mutations and is associated with hearing loss, heart defects, renal anomalies, and neurological abnormalities. Type 2 maps to 13q14 but the causative gene is not yet identified; it primarily presents with anterior segment anomalies and glaucoma. Genetic testing can provide a definitive diagnosis.

2. Main Symptoms and Clinical Findings

Anterior segment photographs of an ARS patient (OD/OS). Yellow arrows: posterior embryotoxon (circumferential), blue arrows: iridocorneal adhesions, iris atrophy, and hole formation, red arrows: corneal leukoma, green arrows: iridolenticular adhesions

Yang N, et al. Pedigree and clinical findings of autosomal dominant congenital Axenfeld–Rieger syndrome. Sci Rep. 2025;15:19957. Fig. 1B. PMCID: PMC12144153. License: CC BY.

Anterior segment photographs of both eyes (OD/OS). Yellow arrows indicate posterior embryotoxon distributed circumferentially at the limbus, blue arrows indicate iridocorneal adhesions and iris atrophy with hole formation. These correspond to posterior embryotoxon and iridocorneal adhesions discussed in the section “2. Main Symptoms and Clinical Findings.”

Subjective Symptoms

Photophobia (glare): Caused by light entering due to iris abnormalities and pseudopolycoria. May worsen with age.
Decreased visual acuity: Becomes prominent when glaucoma progresses.
May be asymptomatic: Infants and young children cannot report symptoms, and it is often discovered incidentally during health checkups.

Clinical Findings

Major ocular findings are listed below.

Ocular Finding	Characteristics
Posterior embryotoxon	Anterior displacement and thickening of Schwalbe’s line
Iris processes	Fine thread-like to broad band-like
Pupil deviation	Deviation opposite to posterior embryotoxon
Pseudopolycoria	Perforated appearance of iris stroma
Uveal ectropion	Eversion of iris pigment epithelium

Posterior embryotoxon is a remnant of undifferentiated cells at the Schwalbe line, observed linearly along the limbus 0.5–2.0 mm centrally from the limbus. It is often localized rather than circumferential. Adhesion between the prominent Schwalbe line and the iris is called Axenfeld anomaly, and if accompanied by iris stromal atrophy, it is called Rieger anomaly.

The cornea is usually transparent with normal endothelial structure, but secondary corneal opacity may occur due to physical contact with residual tissue. Corneal opacity is often localized to the periphery and generally does not directly affect vision. However, in FOXC1 mutations, corneal opacity and corneal neovascularization are more prominent, and the degree of corneal abnormality is greater and the frequency of glaucoma is higher compared to PITX2 mutations ¹⁾.

Gonioscopic findings include high iris insertion, persistent pupillary membrane strands, and thickened Schwalbe line (posterior embryotoxon). Cases complicated by spherophakia or lens subluxation have also been reported ⁷⁾.

Glaucoma occurs in 50–60% of cases. Intraocular pressure elevation may occur in infancy, but most cases develop in childhood to young adulthood. Some cases are diagnosed after progressive vision loss, so it is important not to overlook anterior segment findings and glaucomatous changes ⁶⁾.

Li et al. (2021) reported a 7-year-old boy (ARS type 3, de novo FOXC1 mutation) with corneal diameter 14 mm, axial length 27.16/26.56 mm, cup-to-disc ratio 0.9, and IOP 33/20 mmHg. Antiglaucoma surgery was required for both eyes from 36 days after birth ⁵⁾.

Systemic findings are as follows:

Craniofacial dysmorphism: hypertelorism, increased inner canthal distance, maxillary hypoplasia (saddle nose), broad flat nasal bridge, thin upper lip, prominent lower lip ³⁾
Dental anomalies: microdontia, oligodontia, missing teeth, enamel prone to caries ¹⁾
Periumbilical redundant skin / umbilical hernia: excess skin around the umbilicus is characteristic ⁸⁾
Cardiovascular abnormalities: Atrial septal defect, heart valve abnormalities⁵⁾²⁾
Sensorineural hearing loss: Especially with FOXC1 mutation (type 3)²⁾⁴⁾
Pituitary abnormalities / Growth hormone deficiency
Cataracts / Lens dislocation

Q What is the probability of glaucoma complicating ARS?

Glaucoma occurs in about 50–60% of ARS cases. It often develops during childhood to young adulthood, but some cases present with elevated intraocular pressure in infancy. Regular intraocular pressure measurement and optic nerve evaluation are necessary. For details, see the “Standard Treatment” section.

3. Causes and Risk Factors

ARS shows autosomal dominant inheritance with complete penetrance. However, even within the same family carrying the same gene mutation, there is significant variability in clinical presentation (variable expressivity)¹⁾.

Main causative genes

PITX2 (4q25): Causative gene for type 1. It encodes a paired-like homeodomain transcription factor involved in the development of the eye, teeth, and abdominal wall organs³⁾. Patients with PITX2 mutations are more often identified as ARS and tend to develop glaucoma later than those with FOXC1 mutations⁹⁾.
FOXC1 (6p25): Causative gene for type 3. It encodes a forkhead box transcription factor involved in the development of the eye, heart, kidney, and brain⁵⁾²⁾. This gene was previously reported as FKHL7¹²⁾, and more than 80 mutations have been reported⁵⁾. Patients with FOXC1 mutations tend to develop glaucoma at a younger age than those with PITX2 mutations, and may be identified as congenital glaucoma in infancy⁹⁾.
PAX6 (11p13): Known to be associated with aniridia.
FOXO1A (13q14): Candidate gene for type 2.
CYP1B1: Reported in some ARS cases with mutations.

Large cohort studies have shown that FOXC1 and PITX2 mutations are associated with a broad spectrum of glaucoma from childhood to adulthood⁹⁾. Cases initially diagnosed as PCG (primary congenital glaucoma) may be reclassified by genetic testing, and genetic testing contributes to accurate diagnosis when anterior segment findings in infants are subtle.

Developmental Delay and Microdeletions

In cases with microdeletions around the PITX2 gene, overlapping deletions of NEUROG2, UGT8, and NDST4 can lead to developmental delay and intellectual disability ⁸⁾³⁾.

Kawanami et al. (2023) reported a 3-year-old Japanese boy with a 2.5 Mb microdeletion at 4q25 (including PITX2, NEUROG2, and ANK2). He presented with omphalocele, iris coloboma, and developmental delay, but his electrocardiogram was normal despite the ANK2 deletion. Haploinsufficiency of NEUROG2 was considered a candidate cause of the developmental delay ⁸⁾.

Q If a parent has ARS, what is the probability of passing it to a child?

Due to autosomal dominant inheritance, the probability of transmission from an affected parent is 50%. Penetrance is complete, but the phenotype varies; even with the same mutation, symptom severity can differ greatly ¹⁾. Genetic testing and genetic counseling are recommended.

4. Diagnosis and Testing Methods

Clinical Diagnosis

The diagnosis of ARS is based on bilateral angle abnormalities and iris abnormalities. Partial attachment of the peripheral iris to the posterior embryotoxon is considered a diagnostic criterion ¹³⁾. If posterior embryotoxon is not visible on slit-lamp examination, gonioscopy is necessary. If systemic abnormalities are present, referral to pediatrics for a full systemic workup is indicated as ARS syndrome ¹³⁾.

Note that a mild posterior embryotoxon is seen in 8–15% of the normal population, but alone it is not associated with glaucoma. Family history is also important in diagnosis.

In the classification system of childhood glaucoma in the Glaucoma Clinical Practice Guidelines (5th edition), ARS is positioned as a representative example of glaucoma associated with congenital ocular anomalies ¹³⁾. It is diagnosed when ocular anomalies present at birth meet the diagnostic criteria for childhood glaucoma.

Genetic Testing

Next-generation sequencing (NGS) panel testing is used ⁵⁾
Whole genome sequencing (WGS) can detect large deletions and complex rearrangements ³⁾
Genetic testing is important for differentiating atypical cases and Chandler syndrome¹⁾
Infants with FOXC1 mutations may initially be diagnosed with primary congenital glaucoma (PCG)⁹⁾, and genetic testing enables accurate disease type diagnosis

Differential Diagnosis

The main diseases to be differentiated from ARS are listed below.

Disease	Differences from ARS
ICE syndrome	Unilateral, acquired, female predominance
Peters anomaly	Central corneal opacity, Descemet membrane defect
Aniridia	Corneal pannus, foveal hypoplasia
Posterior polymorphous corneal dystrophy	Bilateral, familial, no sex difference

Differentiation from ICE syndrome (progressive iris atrophy, Chandler syndrome, etc.) is important, but the key distinguishing point is that ICE is unilateral and acquired, whereas ARS is bilateral and congenital.

5. Standard Treatment

There is currently no curative treatment for ARS itself; management focuses on glaucoma control and surveillance for systemic complications. Treatment strategy follows that of early-onset developmental glaucoma (primary congenital glaucoma: PCG) ¹³⁾.

Medication

Glaucoma occurs in approximately 50–60% of ARS cases. Medication follows general glaucoma treatment but is often ineffective.

Aqueous Humor Suppressants

Beta-blockers: One of the first-line options. Safe and effective, but often ineffective in children.

Carbonic anhydrase inhibitors (CAI) eye drops: e.g., brinzolamide. Can be used in combination with beta-blockers.

Alpha-2 agonists (brimonidine): Contraindicated in children under 2 years due to neuropsychiatric side effects (apnea, bradycardia, hypotension, muscle hypotonia, central nervous system depression) ¹³⁾.

Aqueous Humor Outflow Enhancers

Prostaglandin analogs: e.g., latanoprost, travoprost. Efficacy in children is considered weaker than in adults ¹³⁾.

Example: A 7-year-old boy was managed long-term with travoprost + brinzolamide ⁵⁾. A 77-year-old man had IOP of 35 mmHg despite latanoprost, timolol, and brinzolamide, indicating poor control ²⁾.

There is a report that no difference in efficacy was found between prostanoid FP receptor agonists and beta-blockers ¹³⁾.

In infants, the dose of eye drops is relatively high compared to body weight and body surface area; therefore, the lowest concentration possible should be used ¹³⁾.

Surgical Treatment

If intraocular pressure cannot be controlled with medication, surgery is performed¹⁰⁾¹³⁾.

Angle surgery (goniotomy/trabeculotomy): First-line if the angle is open and the extent of trabecular meshwork coverage by peripheral anterior synechiae (PAS) is not extensive. Selecting a site with fewer synechiae for incision increases success rate. However, success rate is lower than in PCG¹³⁾.
Trabeculectomy (with mitomycin C): IOP reduction rate 82–95%. Two-year long-term success rate approximately 59%. Late-onset endophthalmitis risk 7–8%.
Glaucoma drainage device (GDD): May be first-line when angle surgery is ineffective¹³⁾. In a meta-analysis of pediatric glaucoma, success rates were 87% at 12 months, 77% at 24 months, and 54% at 48 months¹⁴⁾. Mean postoperative IOP was 16.5 mmHg at 12 months and 17.6 mmHg at 24 months¹⁴⁾.
Cyclodestructive procedures: Last resort for refractory cases. Success rate is low, and the need for retreatment and complication rate are high.
Micropulse cyclophotocoagulation: A report exists of IOP control achieved in a child with ARS and PITX2 deletion³⁾.

Complications after GDD surgery include shallow anterior chamber 13.6%, hypotony 11.7%, choroidal effusion 8.3%, and endophthalmitis 1.7%¹⁴⁾.

Chakraborty et al. (2022) reported a case of ARS-associated retinal detachment (15-year-old boy). The patient had microspherophakia and lens subluxation; after vitrectomy, IOP rose to 41 mmHg and a scleral staphyloma formed. Diode cyclophotocoagulation was performed, ultimately achieving IOP of 18 mmHg⁷⁾.

Other Management

Refractive correction: Corneal astigmatism and hyperopia may be severe; refractive correction with glasses, etc., is performed. Corneal opacity is usually limited to the periphery and does not affect vision.
Tinted contact lenses: Effective for reducing photophobia due to iris atrophy and polycoria.
Amblyopia prevention: Regular ophthalmic management from childhood is necessary.
Penetrating keratoplasty (PKP): Performed to improve vision in cases of severe corneal opacity due to FOXC1 mutation¹⁾.
Multidisciplinary surveillance: Specialized follow-up for glaucoma, hearing loss, heart disease, endocrine, dental, and craniofacial issues is necessary⁵⁾.

Q What is the success rate of glaucoma surgery associated with ARS?

The success rate of angle surgery is lower than that for PCG¹³⁾. For trabeculectomy with MMC, the 2-year long-term success rate is approximately 59%; for GDD, it is reported as 87% at 12 months and 77% at 24 months¹⁴⁾. Refractory cases may require multiple surgeries.

6. Pathophysiology and detailed pathogenesis

Neural crest cell abnormalities

The fundamental etiology of ARS is a defect in neural crest cell migration and differentiation. Impaired development of neural crest cells in the anterior chamber, anterior chamber angle, facial bones, teeth, cardiovascular system, and periumbilical skin leads to multi-organ malformations.

In the late embryonic stage, the undifferentiated endothelial cells covering the anterior chamber normally disappear from the iris and angle. In ARS, this disappearance process is impaired, and undifferentiated endothelial cells remain on the iris, causing strand formation. In the angle, high iris insertion occurs, mechanically covering the trabecular meshwork.

Histologically, a monolayer of endothelial-like cells with a Descemet-like membrane abnormally extends from the posterior cornea to the anterior chamber, angle, and iris surface. The membrane is present in quadrants with uveal ectropion and corectopia, while iris atrophy is observed in the opposite quadrants.

Functions of FOXC1 and PITX2

FOXC1 and PITX2 are both transcription factors that bind to specific DNA sequences and regulate the expression of downstream genes. They act synergistically in anterior segment development and regulate common downstream target genes³⁾. The forkhead domain (110-amino acid DNA-binding domain) of FOXC1 is functionally most important²⁾, and mutations in this domain are suggested to be more strongly associated with neuropsychiatric symptoms.

Pathogenesis of glaucoma

The following two mechanisms have been pointed out for intraocular pressure elevation.

Mechanical obstruction due to iris adhesion: High iris insertion mechanically covers the trabecular meshwork. Eyes with higher iris insertion are more likely to have glaucoma.
Angle dysgenesis: Underdevelopment of the aqueous humor outflow pathway including Schlemm’s canal and trabecular meshwork. The juxtacanalicular connective tissue is thickened and present beneath Schlemm’s canal, occupying the intercellular spaces of the trabecular meshwork and impairing aqueous outflow.

The degree of iris defect and the amount of iris processes in the angle do not necessarily correlate with glaucoma severity. However, extensive peripheral anterior synechiae in the angle predispose to glaucoma.

FOXC1 mutations promote congenital glaucoma more than other mutations ¹⁾, and morphological abnormalities of the ciliary body and drainage angle may contribute to IOP elevation ¹⁾.

FOXC1 mutations and corneal abnormalities

In FOXC1 mutant mice, reduced collagen fibers and structural abnormalities in the corneal stroma, as well as damage to keratocytes, are observed ¹⁾. Furthermore, FOXC1 functions as a suppressor of corneal angiogenesis (via regulation of VEGF bioavailability) ¹⁾, and loss of this suppression due to FOXC1 mutation leads to corneal neovascularization.

FOXC1 mutations and neurological abnormalities

FOXC1, as a FOX family transcription factor, also plays an important role in brain development ⁴⁾.

A systematic review reported that white matter abnormalities appear in 41.3% of ARS cases ⁴⁾. FOXC1 mutations can induce cerebral small vessel disease (CSVD), white matter hyperintensities, enlarged perivascular spaces, microbleeds, and lacunar infarcts.

Ohkubo et al. (2025) confirmed periventricular white matter lesions, enlarged perivascular spaces, and vertebrobasilar dolichoectasia on brain MRI in a 2-year-old Japanese boy (FOXC1 mutation: c.240del, p.Y81Ifs21). His father had a history of cerebral infarction at age 18 ⁴⁾.

In a review of 95 FOXC1 mutation cases, 6.3% had neuropsychiatric symptoms (learning difficulties, epilepsy, intellectual disability, delusional jealousy, etc.), and 83.3% of cases with forkhead domain mutations exhibited neuropsychiatric symptoms ²⁾.

Q Can brain abnormalities occur in ARS?

Yes. A systematic review reported that white matter abnormalities appear in approximately 41% of ARS cases with FOXC1 mutations ⁴⁾. FOXC1 mutations have been suggested to be associated with cerebral small vessel disease and stroke risk, and long-term neurological follow-up is particularly important in FOXC1-mutated ARS.

7. Latest research and future perspectives (research-stage reports)

Identification of Novel Gene Mutations

In recent years, many novel mutations have been reported through next-generation sequencing and whole-genome sequencing.

Wowra et al. (2024) identified a large deletion (novel mutation) involving part of FOXC1 exon 1 and the entire 3’UTR in three Polish sisters with ARS. Even within the same family, phenotypes varied greatly, and they were initially misdiagnosed with Chandler syndrome ¹⁾.

Jiang et al. (2024) identified a complex genomic rearrangement in a Chinese family with ARS type 1, including a 6.15 Mb deletion of chromosome 4q25 containing PITX2, a 45.71 Mb inversion, and a 14 bp deletion. An 11-year-old girl presented with IOP of 43.5/44.0 mmHg ³⁾.

Other reports of novel mutations include FOXC1 p.Phe136Leu (forkhead domain) ²⁾, FOXC1 p.S82R (de novo mutation) ⁵⁾, and FOXC1 c.240del, p.Y81Ifs21 ⁴⁾.

Elucidation of Mechanisms of Neuropsychiatric Symptoms

Yoshino et al. (2024) reported a case of ARS type 3 in a 77-year-old Japanese man. He developed delusions of jealousy at age 72, and leukoencephalopathy was confirmed. In a literature review of 95 FOXC1 mutation cases, neuropsychiatric symptoms were observed in 6.3% (6/95), and 83.3% (5/6) of those had forkhead domain mutations ²⁾.

This finding suggests that the functional domain of FOXC1 mutations may be involved in the development of neuropsychiatric symptoms, highlighting the importance of long-term follow-up from a mental health perspective.

Cerebrovascular Risk and Prevention

It has been suggested that FOXC1 mutations may induce CSVD and increase stroke risk ⁴⁾. The importance of prevention and early intervention for neurovascular diseases in ARS patients is a future research topic.

Corneal Pathology and Prospects for Novel Therapies

The pathogenesis of corneal “sclerization” due to FOXC1 mutations is being elucidated ¹⁾. Understanding the molecular mechanisms of corneal opacity is expected to lead to the development of novel therapies using gene therapy, anti-fibrotic drugs, and biomaterials ¹⁾.

8. References

Wowra B, Wysocka-Kosmulska M, Stanienda-Sokół K, et al. Diagnostic Challenges of Axenfeld-Rieger Syndrome and a Novel FOXC1 Gene Mutation in a Polish Family. J Clin Med. 2024;13(19):5761.
Yoshino Y, Iga J, Ueno S. A Novel Mutation of FOXC1 (P136L) in an Axenfeld-Rieger Syndrome Patient With a Systematized Delusion of Jealousy: A Case Report and Literature Review. Mol Genet Genomic Med. 2024;12:e70008.
Jiang Z, Zhang Y, Wang L, Yang H, Yu L. Complex genomic rearrangement with deletion of PITX2 in a Chinese family with Axenfeld-Rieger syndrome: A case report and literature review. Mol Vis. 2024;30:466-476.
Ohkubo Y, Hayashi T, Ida K, et al. A case of Axenfeld-Rieger syndrome with neuroradiological abnormalities. Radiol Case Rep. 2025;20:5078-5080.
Li K, Tang M, Xu M, Yu Y. A novel missense mutation of FOXC1 in an Axenfeld-Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review. BMC Med Genomics. 2021;14:255.
Khan TA, Zahid MA, Akram A, Rauf A. Progressive Vision Loss in a Patient With Axenfeld-Rieger Syndrome. Cureus. 2022;14(5):e25128.
Chakraborty D, Basak SK, Saha A, Mondal S, Mitra A. A case of Axenfeld-Rieger syndrome with retinal detachment. Indian J Ophthalmol. 2022;70:2650-2652.
Kawanami Y, Horinouchi T, Morisada N, Kato T, Nozu K. 4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay. Case Rep Genet. 2023;2023:4592114.
Souzeau E, Siggs OM, Zhou T, et al. Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants. Eur J Hum Genet. 2017;25(7):839-847.
World Glaucoma Association. Childhood Glaucoma Consensus Guidelines. Amsterdam: Kugler Publications; 2013.
Knight LSW, Ridge B, Staffieri SE, Ruddle JB, Taranath DA, Craig JE, Mackey DA, Burdon KP. Childhood and early onset glaucoma classification and genetic profile in a large Australasian disease registry. Ophthalmology. 2021;128(11):1549-1559.
Mirzayans F, Gould DB, Heon E, Billingsley GD, Cheung JC, Mears AJ, Walter MA. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. Eur J Hum Genet. 2000;8(1):71-74.
日本緑内障学会. 緑内障診療ガイドライン（第5版）. 日眼会誌. 2022;126:85-177.
Stallworth JY, O’Brien KS, Han Y, Oatts JT. Efficacy of Ahmed and Baerveldt glaucoma drainage device implantation in the pediatric population: A systematic review and meta-analysis. Surv Ophthalmol. 2023;68(4):639-656.

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