A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings

Barry, Gerard P.; Ny, Betina Mucha-Le; Zackai, Elaine H.; Grunwald, Lili; Forbes, Brian J.

doi:10.3109/13816810.2010.505225

Cited by 17 publications

(11 citation statements)

References 9 publications

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“…More severe presentations of Pfeiffer syndrome have subsequently been described which may include severe craniostenosis, extreme proptosis, and upper airway obstruction. These severe forms carry a poor prognosis and tend to be sporadic rather than familial [9] .…”

Section: Discussionmentioning

confidence: 99%

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Ophthalmic considerations in patients with Pfeiffer syndrome

Clark

Compton

Tahiri

et al. 2016

American Journal of Ophthalmology Case Reports

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PurposeWe report here a newborn male infant with striking features consistent with severe Pfeiffer syndrome type II, including cloverleaf skull deformity with pansynostosis, extreme proptosis, upper extremity contractures, broad big toes and thumbs with varus deviation and genetic mutation in the FGFR2 gene. The authors review the ophthalmic complications in Pfeiffer syndrome and discuss the unique surgical strategies used for obtaining adequate corneal coverage in these unique patients.ObservationsOphthalmic considerations in Type 2 Pfeiffer Syndrome include vision loss secondary to increased intracranial pressure, and extreme proptosis as a result of orbitostenosis and midfacial retrusion. Our patient has undergone multiple ophthalmic/oculoplastic, neurosurgical, and midfacial surgeries as a result of corneal deterioration due to extreme exorbitism.Conclusions and importanceIt is important for ophthalmologists to be aware of the ophthalmic complications associated with patients with craniosynostosis syndromes. Our case identifies the importance of close communication between ophthalmology and plastic reconstructive surgery to help formulate the most successful plan in treating corneal decompensation and proptosis in Pfeiffer Syndrome patients.

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Section: Discussionmentioning

confidence: 99%

“…Strabismus is common, particularly exotropia and over elevation in adduction. Increased intracranial pressure can occasionally lead to optic nerve compression and optic nerve hypoplasia has also been reported [4] , [9] , [11] , [12] .…”

Section: Discussionmentioning

confidence: 99%

Ophthalmic considerations in patients with Pfeiffer syndrome

Clark

Compton

Tahiri

et al. 2016

American Journal of Ophthalmology Case Reports

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“…Mutations in the BMP4 gene were found to cause congenital glaucoma in a patient with SHORT syndrome (Reis et al, 2011). Also, a Pfeiffer syndrome patient with a Trp290Cys mutation in fibroblast growth factor receptor 2 (FGFR2) displayed several ocular abnormalities including microcornea, limbal scleralization, corecoptia and glaucoma (Barry et al, 2010). In other tissues, FGF signaling via FGFR2 profoundly affects ECM gene expression.…”

Section: Glaucoma Associated With Mutations In Ecm Genesmentioning

confidence: 99%

Extracellular matrix in the trabecular meshwork: Intraocular pressure regulation and dysregulation in glaucoma

Vranka

Kelley

Acott

et al. 2015

Experimental Eye Research

314

291

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The trabecular meshwork (TM) is located in the anterior segment of the eye and is responsible for regulating the outflow of aqueous humor. Increased resistance to aqueous outflow causes intraocular pressure to increase, which is the primary risk factor for glaucoma. TM cells reside on a series of fenestrated beams and sheets through which the aqueous humor flows to exit the anterior chamber via Schlemm’s canal. The outer trabecular cells are phagocytic and are thought to function as a pre-filter. However, most of the outflow resistance is thought to be from the extracellular matrix (ECM) of the juxtacanalicular region, the deepest portion of the TM, and from the inner wall basement membrane of Schlemm’s canal. It is becoming increasingly evident that the extracellular milieu is important in maintaining the integrity of the TM. Not only have ultrastructural changes been observed in the ECM of the TM in glaucoma, and a significant number of mutations in ECM genes are known to be associated with glaucoma, but the stiffness of glaucomatous TM appears to be greater than that of normal tissue. Additionally, TGFβ2 has been found to be elevated in the aqueous humor of glaucoma patients and is assumed to be involved in ECM changes deep with the juxtacanalicular region of the TM. This review summarizes the current literature on trabecular ECM as well as the development and function of the TM. Animal models and organ culture models targeting specific ECM molecules to investigate the mechanisms of glaucoma are described. Finally, the growing number of mutations that have been identified in ECM genes and genes that modulate ECM in humans with glaucoma are documented.

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“…The patient had Pfeiffer syndrome and presented with microcornea, limbus scleralization, and glaucoma at birth. The abnormal eye development was attributed to an FGFR2 mutation (Barry et al, 2010). Our patient’s syndromic craniosynostosis and multiple congenital anomalies are likely secondary to her complex chromosomal rearrangements.…”

Section: Discussionmentioning

confidence: 99%

Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma

Schultz

Wiggins

Streff

et al. 2018

The Cleft Palate-Craniofacial Journal

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Patients with craniosynostosis with subnormal vision due to papilledema and/or exposure-related corneal decompensation are well documented in the literature; however, there is only a single prior documented case of vision compromise secondary to anterior segment dysgenesis and glaucoma in this patient population. This report highlights a case of syndromic craniosynostosis with advanced corneal decompensation and anterior segment dysgenesis that was masked and ultimately delayed the diagnosis of congenital glaucoma.

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A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings

Abstract: This case supports the association between Pfeiffer syndrome and severe ocular anterior segment anomalies, including glaucoma, and underscores the possible role that FGFR2 has in development of the anterior segment of the eye.

Cited by 17 publications

References 9 publications

Ophthalmic considerations in patients with Pfeiffer syndrome

Ophthalmic considerations in patients with Pfeiffer syndrome

Extracellular matrix in the trabecular meshwork: Intraocular pressure regulation and dysregulation in glaucoma

Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma

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