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Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?

Abdolrahimzadeh S, Scavella V, Felli L, Cruciani F, Contestabile MT, Recupero SM - Biomed Res Int (2015)

Bottom Line: Glaucoma can be due to malformations of the anterior chamber or high episcleral venous pressure and in phakomatosis pigmentovascularis it can also be associated with angle hyperpigmentation.The choroid can be thickened in all diseases.Although the multiple pathophysiological mechanisms still require clarification, similarities in ophthalmic manifestations make it reasonable to classify these diseases in an independent group.

View Article: PubMed Central - PubMed

Affiliation: Ophthalmology Unit, DAI Head/Neck, Umberto I Policlinic, University of Rome "Sapienza", Viale del Policlinico 155, 00161 Rome, Italy.

ABSTRACT
The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis. Other features linked to the port-wine stain and typical to all of the three conditions are glaucoma and choroidal alterations. Glaucoma can be due to malformations of the anterior chamber or high episcleral venous pressure and in phakomatosis pigmentovascularis it can also be associated with angle hyperpigmentation. The choroid can be thickened in all diseases. Furthermore, choroidal melanocytosis in the phakomatosis pigmentovascularis can lead to malignant transformation. Although the multiple pathophysiological mechanisms still require clarification, similarities in ophthalmic manifestations make it reasonable to classify these diseases in an independent group.

No MeSH data available.


Related in: MedlinePlus

Bilateral facial port-wine stain and glaucoma of the left eye in a patient with Klippel-Trenaunay Syndrome from [7].
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fig5: Bilateral facial port-wine stain and glaucoma of the left eye in a patient with Klippel-Trenaunay Syndrome from [7].

Mentions: The most common ophthalmological alterations encountered in the KTS are choroidal hemangiomas similar to those described for the SWS [90]. Glaucoma, also frequently observed, has been associated with anterior chamber malformation [91] or due to raised episcleral venous pressure as in the SWS [38, 39] (Figure 5).


Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?

Abdolrahimzadeh S, Scavella V, Felli L, Cruciani F, Contestabile MT, Recupero SM - Biomed Res Int (2015)

Bilateral facial port-wine stain and glaucoma of the left eye in a patient with Klippel-Trenaunay Syndrome from [7].
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4588354&req=5

fig5: Bilateral facial port-wine stain and glaucoma of the left eye in a patient with Klippel-Trenaunay Syndrome from [7].
Mentions: The most common ophthalmological alterations encountered in the KTS are choroidal hemangiomas similar to those described for the SWS [90]. Glaucoma, also frequently observed, has been associated with anterior chamber malformation [91] or due to raised episcleral venous pressure as in the SWS [38, 39] (Figure 5).

Bottom Line: Glaucoma can be due to malformations of the anterior chamber or high episcleral venous pressure and in phakomatosis pigmentovascularis it can also be associated with angle hyperpigmentation.The choroid can be thickened in all diseases.Although the multiple pathophysiological mechanisms still require clarification, similarities in ophthalmic manifestations make it reasonable to classify these diseases in an independent group.

View Article: PubMed Central - PubMed

Affiliation: Ophthalmology Unit, DAI Head/Neck, Umberto I Policlinic, University of Rome "Sapienza", Viale del Policlinico 155, 00161 Rome, Italy.

ABSTRACT
The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis. Other features linked to the port-wine stain and typical to all of the three conditions are glaucoma and choroidal alterations. Glaucoma can be due to malformations of the anterior chamber or high episcleral venous pressure and in phakomatosis pigmentovascularis it can also be associated with angle hyperpigmentation. The choroid can be thickened in all diseases. Furthermore, choroidal melanocytosis in the phakomatosis pigmentovascularis can lead to malignant transformation. Although the multiple pathophysiological mechanisms still require clarification, similarities in ophthalmic manifestations make it reasonable to classify these diseases in an independent group.

No MeSH data available.


Related in: MedlinePlus