CONCLUSIONS: This is a descriptive summary of the case of a patient with Axenfeld-Rieger syndrome associated with a congenital malformation of the iris and consequent pupillary morphological alteration of an atypical characteristic reported. This anomaly is unique in scientific literature and exhibits a peculiarity that we have called pseudoacorea: Hidden pupil. Other associated abnormal clinical findings were posterior embryotoxon, astigmatism, amblyopia, and exotropia. Diagnosis was achieved by instilling ocular mydriatics into the cul-de-sac that revealed this peculiarity. It is necessary to make a differential diagnosis with other pupillary pathologies such as corectopia, acorea and microcoria. Early detection of pathology and surgical management is necessary, since it would lead to a better visual prognosis for both amblyopia and strabismus.
BACKGROUND: Among the malformations of the pupil, we can find polycoria (more than one pupil), dyscoria (abnormal pupil shape), corectopia (abnormal pupil position) and acorea (absence of pupil). In addition, morphologically normal pupils can denote other anomalies such as the microcoria described by Holth in 1923. Acorea is a rare anomaly, congenital or acquired, characterized by an absolute absence of the pupil both at rest and in mydriasis. In our case we prefer to differentiate it and name it pseudoacorea, since although there is a total absence of the pupil at rest thanks to the application of ocular mydriatics, a micropupil with discoric and corectopic characteristics is achieved. It is worth noting that we have not detected in the scientific literature any case described as the one that we will develop here.
CONCLUSIONS: The case of a patient with Axenfeld-Rieger syndrome associated with a congenital malformation of the iris and consequent atypical pupillary morphological alteration is presented. This anomaly is unique in the scientific literature and presents a peculiarity that we have called pseudoacorea: Hidden pupil. Early detection of pathology and surgical management is necessary, since it would lead to a better visual prognosis for both amblyopia and strabismus.

FOXC1 is a ubiquitously expressed forkhead transcription factor that plays a critical role during early development. Germline pathogenic variants in FOXC1 are associated with anterior segment dysgenesis and Axenfeld-Rieger syndrome (ARS, #602482), an autosomal dominant condition with ophthalmologic anterior segment abnormalities, high risk for glaucoma and extraocular findings including distinctive facial features, as well as dental, skeletal, audiologic, and cardiac anomalies. De Hauwere syndrome is an ultrarare condition previously associated with 6p microdeletions and characterized by anterior segment dysgenesis, joint instability, short stature, hydrocephalus, and skeletal abnormalities. Here, we report clinical findings of two unrelated adult females with FOXC1 haploinsufficiency who have ARS and skeletal abnormalities. Final molecular diagnoses of both patients were achieved using genome sequencing. Patient 1 had a complex rearrangement involving a 4.9 kB deletion including FOXC1 coding region (Hg19; chr6:1,609,721-1,614,709), as well as a 7 MB inversion (Hg19; chr6:1,614,710-8,676,899) and a second deletion of 7.1 kb (Hg19; chr6:8,676,900-8,684,071). Patient 2 had a heterozygous single nucleotide deletion, resulting in a frameshift and a premature stop codon in FOXC1 (NM_001453.3): c.467del, p.(Pro156Argfs*25). Both individuals had moderate short stature, skeletal abnormalities, anterior segment dysgenesis, glaucoma, joint laxity, pes planovalgus, dental anomalies, hydrocephalus, distinctive facial features, and normal intelligence. Skeletal surveys revealed dolichospondyly, epiphyseal hypoplasia of femoral and humeral heads, dolichocephaly with frontal bossin gand gracile long bones. We conclude that haploinsufficiency of FOXC1 causes ARS and a broad spectrum of symptoms with variable expressivity that at its most severe end also includes a phenotype overlapping with De Hauwere syndrome.

The 6p25 deletion syndrome is a rare genetic disorder characterized by a wide spectrum of congenital anomalies. Ophthalmic abnormalities appear to be highly associated with the syndrome, although this relationship has not been well characterized to date. We conducted a systematic literature review to highlight the ocular features in patients with this deletion syndrome and describe a 7-month-old female who has a 6.07 MB 6p25.1p25.3 deletion and a 4.25 MB 17q25.3 duplication. Our patient presented with multiple congenital anomalies, including macrocephaly, frontal bossing, low set ears, tent-shaped mouth, saddle nose, flat midface, and hearing impairment. Her ophthalmic features included proptosis, down-slanting palpebral fissures, hypertelorism, nystagmus, bilateral posterior embryotoxon, and decentered and abnormally shaped pupils. A systematic review of the published cases with sufficient clinical eye descriptions included 63 cases with a confirmed 6p25 deletion. The most common eye findings observed were posterior embryotoxon, iris hypoplasia, corectopia, cornea opacity, and glaucoma.

Axenfeld-Rieger syndrome (ARS) is a genetic disease affecting multiple organ systems. In the eye, it is associated with anterior segment dysgenesis with a high risk for glaucoma. Dental anomalies, cardiovascular malformations, hypospadias, and craniofacial abnormalities are other associated systemic conditions. Five years old monozygotic twin brothers with ARS were referred to Umraniye Training and Research Hospital, ophthalmology clinic for iris abnormalities. At presentation, pathognomonic components of ARS were found in both patients, including iris anomaly (corectopia, iris hypoplasia, and iris strands in Scwalbe\'s ring), oligodontia, hypodontia, hypospadias, and periumbilical skin fold. Intraocular pressure was within normal ranges in both of the patients. Patients were followed up in the glaucoma unit.

Axenfeld-Rieger syndrome (ARS) is an autosomal dominant syndrome with a prevalence estimated at 1:50000 to 1:100000 in newborns. It is mainly characterized by ocular, craniofacial, and dental abnormalities. From the pediatric dentist\'s point of view, early diagnosis of the syndrome from the ocular, craniofacial, and dental manifestation can prevent further abnormalities and ocular complications such as glaucoma. This case report presents a brief description of ARS with the characteristics of craniofacial and dental findings.

UNASSIGNED: To present the first report of a XEN45 gel stent implantation in a female with Axenfeld-Rieger syndrome (ARS), a rare congenital anomaly caused by abnormal neural crest migration during early embryogenesis. This shows promise as new minimally invasive therapeutic option in the treatment of secondary glaucoma in ARS.
UNASSIGNED: A 31-year-old female with known sporadic ARS was evaluated and treated at the Edith Wolfson Medical Center in Holon, Israel. The vision in her right eye was hand motion and 20/25 in the left eye. In the left eye the intraocular pressure (IOP) was up to 31 mmHg under maximal tolerated treatment. She refused Trabeculectomy or Glaucoma Drainage Device (GDD) surgery, but agreed to Minimally Invasive Glaucoma Surgery (MIGS). A Xen device was implanted in uneventful surgery. 15 months post operatively her IOP is 8 mmHg.
UNASSIGNED: XEN implantation, when technically feasible, is a suitable procedure in ARS. This shows promise as new minimally invasive therapeutic option in the treatment of secondary glaucoma in ARS. This has particular significance as these patients often require surgery at a young age.

The article describes a case of 7-year-old child with rare Axenfeld-Rieger syndrome demonstrating the effectiveness and safety of combined laser reconstructive surgeries - a non-invasive alternative to ordinary operations without needing anesthesia. The diversity of ophthalmic pathologies in this syndrome is the reason why the target, indications and optimal time for operation should be chosen individually. It is reasonable to suggest widening the indication spectrum for laser reconstructive surgery with consideration of surgeon experience and availability of high-tech equipment.
Описанный клинический случай успешного создания зрачка с использованием лазерных методов у ребенка 7 лет с синдромом Аксенфельда—Ригера демонстрирует эффективность и безопасность комбинированных лазерных реконструктивных вмешательств как неинвазивной альтернативы инструментальным операциям, причем без наркоза, даже при столь редком заболевании. Офтальмопатология при синдроме Аксенфельда—Ригера весьма разнообразна, что требует индивидуального подхода к определению цели, показаний и оптимальных сроков реконструктивной офтальмохирургии у детей. Целесообразно расширение показаний к лазерной реконструктивной хирургии при наличии высокотехнологичной аппаратуры и опыта хирурга.

OBJECTIVE: The congenital oligodontia impeding the development of the alveolar process resulting in disproportionate jaw growth has been previously reported. This case report describes the interdisciplinary management of an 11-year-old girl with Axenfeld-Rieger syndrome exhibiting oligodontia and maxillary hypoplasia.
RESULTS: An adjunctive orthodontic therapy was performed by taking advantage of bone-anchored maxillary protraction (BAMP) therapy using miniplates and 24-hour traction by intermaxillary Class III elastics. After 6 months of active treatment, the maxilla advanced by approximately 5 mm and upper lip relation improved by 3 mm without any significant changes in vertical relations. All the changes were maintained at 15th-month follow-up. A temporary removable prosthesis was given for immediate esthetics, and the definitive management is discussed.
CONCLUSIONS: The BAMP therapy can be a befitting alternative in cases exhibiting complex presentation involving skeletal and dentoalveolar components. An appreciable profile improvement without any dentoalveolar side effects can be achieved with BAMP therapy.

BACKGROUND: Axenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic disease characterized by ocular developmental disorders and its association with torsion of wandering spleen (WS) has not been reported to date to the best of our knowledge. This study aimed to describe a rare case of ARS observed at our emergency department.
METHODS: A 25-year-old female presented with a constant lower abdominal pain of increasing severity. Diagnostic computed tomography with intravenous contrast material showed a non-homogenously enhanced splenic parenchyma with a twisted vascular pedicle. Further, an emergent laparoscopic exploration was performed, and an ischemic spleen without its normal ligamentous attachments was noted. Notably, the spleen did not regain its normal vascularity after detorsion; thus, we performed the laparoscopic total splenectomy. The postoperative course was uneventful, and the patient was discharged on the 5th postoperative day. This case demonstrates a rare association of WS and ARS.
CONCLUSIONS: Early diagnosis of WS in the emergency department is important to prevent pedicle torsion or splenic necrosis and to avoid splenectomy.