Clinical course during 40-year follow-up of Axenfeld-Rieger syndrome in a Japanese family

Yoshida, Shigeo; Miyazaki, Aki; Ishikawa, Keijiro; Ikeda, Yasuhiro; Fujisawa, Kimihiko; Ishibashi, Tatsuro

doi:10.4103/0974-620x.60021

Cited by 2 publications

(1 citation statement)

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“…The diagnosis of ARS can be made by a constellation of ocular findings, including excessive iris tearing (polycoria), iris hypoplasia, eccentric pupils, prominent and displaced Schwalbe′s line (posterior embryotoxon), and iridocorneal tissue adhesions. Extraocular developmental abnormalities, especially of the teeth, facial bones, and periumbilical skin, have also been reported to be associated with ARS [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Axenfeld‐Rieger syndrome combined with a foveal anomaly in a three‐generation family: a case report

et al. 2021

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Background Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant eye disorder that can also affect other organs of the human body. The condition is primarily characterized by the anterior segmental abnormalities of the eye. Here, we present an observational case series of a three-generation family with ARS and unexpected foveal anomaly. Case presentation A 33-year-old woman was admitted to an Ophthalmology Clinic in Bialystok for left eye congenital cataract surgery. The patient (proband) was diagnosed with visual deterioration, multiple defects of iris, corectopia, displacement of the Schwalbe’s line, and phenotypic characteristics of ARS. A perimetric examination indicated peripheral visual field loss and signs typical for glaucoma. Based on the phenotypic symptoms and genetic test, the patient was diagnosed with Axenfeld Rieger Syndrome. However, the optical coherence tomography of the macula showed foveal anomaly (absence of the physiological pit), which is not typically associated with this genetic disorder. The patient’s family history revealed that her two daughters were undergoing treatment for congenital glaucoma, and one of the daughters also had foveal anomaly the same as her mother. Interestingly, an examination of the patient’s mother showed typical phenotypic features of ARS such as a defect of the iris, posterior embryotoxon, and coloboma, as well as foveal anomaly. A genetic test confirmed PITX2 mutation in both, proband’s two daughters and mother. Conclusions This study highlights the occurrence of ARS with unusual ophthalmic features such as foveal anomaly (absence of the physiological pit) in a three-generation family. Although ARS is known to represent the developmental defects of the anterior segment of the eye, it is very important to perform fundus evaluation to identify associated posterior segment anomalies that may affect visual acuity. The presence of ocular defects not typically associated with ARS suggests a wide spectrum of mutations within PITX2 gene which are required to identify in order to determine genotype- phenotype correlation in ARS affected individuals.

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Section: Introductionmentioning

confidence: 99%