Peters-Rieger's Syndrome

Awan, Khalid J.

doi:10.3928/0191-3913-19770301-12

Cited by 6 publications

(5 citation statements)

References 9 publications

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“… b The total number of studies and patients in this table is out of those that included genetic data, which excludes 14 studies [ 2 , 6 , 46 , [55] , [56] , [57] , [58] , [59] , [60] , [61] , [62] , [63] , [64] , [65] , [66] ] without data and 2 studies [ 67 , 68 ] with no genetic abnormalities noted. …”

Section: Resultsmentioning

confidence: 99%

Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening

Muzyka,

Winterhalter,

LoPresti

et al. 2023

Heliyon

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Section: Resultsmentioning

confidence: 99%

Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening

Muzyka,

Winterhalter,

LoPresti

et al. 2023

Heliyon

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“…In this retrospective review, in 1977, Awan KJ first described the rare joint occurrence of PA and ARS as Peters-Rieger's syndrome. The associated ocular anomalies were dysversion of the optic disc, hypoplasia of the optic nerve, and downward ectopia of the macula [4] . W Doward reported a patient with PA unilaterally with cataract and IH in the contralateral eye who had an A to T substitution at the invariant −2 site of the 3’ splice site of intron 3 of the PITX2 gene.…”

Section: Discussionmentioning

confidence: 99%

“…The associated ocular anomalies were dysversion of the optic disc, hypoplasia of the optic nerve, and downward ectopia of the macula. [4] W Doward reported a patient with PA unilaterally with cataract and IH in the contralateral eye who had an A to T substitution at the invariant À2 site of the 3' splice site of intron 3 of the PITX2 gene. An additional finding was mild left foveal hypoplasia.…”

Section: Discussionmentioning

confidence: 99%

“…[3] In 1977, Awan KJ first described the rare joint occurrence of PA and ARS as Peters-Rieger's syndrome; complicated ocular and systemic anomalies were also mentioned. [4] In the literature, only 3 cases with an anterior segment phenotype between the 2 eyes of a patient with coexisting PA and ARS and pituitary homeobox 2 (PITX2) or forkhead box C1 (FOXC1) mutations have been reported. In this manuscript, we report the case of a 72-year-old female with an unusual ophthalmic phenotype, with ARS in the right eye and PA with cone-shaped polar cataract in the left eye.…”

Section: Introductionmentioning

confidence: 99%

“…In 1977, Awan KJ first described the rare joint occurrence of PA and ARS as Peters-Rieger's syndrome; complicated ocular and systemic anomalies were also mentioned [4] . In the literature, only 3 cases with an anterior segment phenotype between the 2 eyes of a patient with coexisting PA and ARS and pituitary homeobox 2 (PITX2) or forkhead box C1 (FOXC1) mutations have been reported.…”

Section: Introductionmentioning

confidence: 99%

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Case report of the rare Peters’ anomaly complicated with Axenfeld-Rieger syndrome

et al. 2022

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Introduction: Peters’ anomaly (PA) and Axenfeld-Rieger syndrome (ARS) are typical classifications of anterior segment dysgenesis (ASD) and ascribed to congenital eye diseases that encompass developmental defects in anterior segment structures. The aim of this study is to discuss the unusual association between PA and ARS and to determine the results of penetrating keratoplasty combined with extracapsular cataract extraction and anterior vitrectomy for this unusual ophthalmic phenotype. Patient concerns: A 72-year-old female was referred to Changzhou No. 2 People's Hospital for a progressive decrease in visual acuity in both eyes in the past few decades. Diagnoses: The patient was diagnosed with PA with cone-shaped polar cataracts in the left eye based on a series of ophthalmic examinations. ARS with retinal detachment was diagnosed in the right eye 2 years prior. Interventions: Penetrating keratoplasty combined with extracapsular cataract extraction and anterior vitrectomy were performed to manage PA with cataracts in the left eye. Outcomes: Her best corrected visual acuity did not improve significantly after the operation. Patients with ARS and PA should be treated cautiously because of fundus lesions. Conclusion: This study revealed that cases with PA accompanied by iridocorneal adhesions, or other ocular anomalies, need to be treated cautiously for a very low success rate. It is of reference value for the evaluation of treatment prognosis for this joint occurrence of ophthalmic phenotypes.

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Unilateral Rieger's Anomaly

Awan

1981

American Journal of Ophthalmology

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Peters-Rieger's Syndrome

Cited by 6 publications

References 9 publications

Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening

Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening

Case report of the rare Peters’ anomaly complicated with Axenfeld-Rieger syndrome

Unilateral Rieger's Anomaly

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