Ciliary body cysts in neurofibromatosis: A new coexistence?

Emre, Sinan; Palamar, Melis; Ulusoy, Mahmut Oğuz; Gençoğlan, Gülsüm

doi:10.1007/s00417-011-1830-6

Cited by 9 publications

(6 citation statements)

References 21 publications

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“…Neurofibromatosis type 1, encephalotrigeminal angiomatosis (Sturge-Weber syndrome and variants such as Klippel-Trenaunay syndrome), retinal and cerebellar angiomatosis, and oculodermal melanocytosis are included among these multisystem disorders [ 3 , 84 ]. Glaucoma onset is seldom encountered in neurofibromatosis type 1 and the pathophysiological mechanisms reported are infiltration of the anterior chamber by neurofibromas, Lisch nodules in the chamber angle leading to secondary angle closure, increase in thickness of the ciliary body and choroid, and developmental angle abnormalities [ 85 – 88 ]. Secondary childhood glaucoma is frequently associated with the Sturge-Weber and Klippel-Trenaunay syndromes and with phakomatosis pigmentovascularis which have the facial naevus flammeus in common.…”

Section: Genetics and Pathophysiologymentioning

confidence: 99%

Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management

Abdolrahimzadeh

Fameli

Mollo

et al. 2015

BioMed Research International

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Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions. Neural crest alterations lead to the wide spectrum of iridocorneal trabeculodysgenesis. Systemic diseases associated with childhood glaucoma include the heterogenous group of phakomatoses where glaucoma is frequently encountered in the Sturge-Weber syndrome and its variants, in phakomatosis pigmentovascularis associated with oculodermal melanocytosis, and more rarely in neurofibromatosis type 1. Childhood glaucoma is also described in systemic disorders of mitotic and metabolic activity. Acquired secondary glaucoma has been associated with uveitis, trauma, drugs, and neoplastic diseases. A database research revealed reports of childhood glaucoma in rare diseases, which do not include glaucoma in their manifestation. These are otopalatodigital syndrome, complete androgen insensitivity, pseudotrisomy 13, Brachmann-de Lange syndrome, acrofrontofacionasal dysostosis, caudal regression syndrome, and Wolf-Hirschhorn syndrome.

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Section: Genetics and Pathophysiologymentioning

confidence: 99%

Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management

Abdolrahimzadeh

Fameli

Mollo

et al. 2015

BioMed Research International

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“…At the same time, while structural eye defects are not typical of NF1 , one patient with NF1 having anterior segment anomalies (bilateral posterior embryotoxon and left Peters anomaly) and cerebral artery stenosis was reported; the authors postulated that the ocular defects may have been caused by vascular disruption during embryonic development . In addition, gonioscopic evaluation of nine NF1 patients by ultrasonic biomicroscopy suggested that almost half (8/18 eyes) had an abnormal (occludable) anterior chamber angle . Finally, homozygous deletion of Nf1 in mice results in lens dysgenesis; eye phenotypes included normal eyes (19%), anophthalmia or microphthalmia (28%), and absent lens with intact retina (53%); study of embryonic development suggested that Nf1 is required for lens vesicle formation .…”

Section: Discussionmentioning

confidence: 99%

Whole‐genome copy number variation analysis in anophthalmia and microphthalmia

et al. 2013

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Anophthalmia and microphthalmia (A/M) represent severe developmental ocular malformations. Currently, mutations in known genes explain less than 40% of A/M cases. We performed whole genome copy number variation analysis in sixty patients affected with isolated or syndromic A/M. Pathogenic deletions of 3q26 (SOX2) were identified in four independent patients with syndromic microphthalmia. Other variants of interest included regions with a known role in human disease (likely pathogenic) as well as novel rearrangements (uncertain significance). A 2.2-Mb duplication of 3q29 in a patient with nonsyndromic anophthalmia and an 877-kb duplication of 11p13 (PAX6) and a 1.4-Mb deletion of 17q11.2 (NF1) in two independent probands with syndromic microphthalmia and other ocular defects were identified; while ocular anomalies have been previously associated with 3q29 duplications, PAX6 duplications, and NF1 mutations in some cases, the ocular phenotypes observed here are more severe than previously reported. Three novel regions of possible interest included a 2q14.2 duplication which cosegregated with microphthalmia/microcornea and congenital cataracts in one family, and 2q21 and 15q26 duplications in two additional cases; each of these regions contains genes that are active during vertebrate ocular development. Overall, this study identified causative copy number mutations and regions with a possible role in ocular disease in 17% of A/M cases.

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“…Glaucoma onset is rarely seen in NF1, although multiple pathogenic mechanisms related to angle closure have been proposed. The most commonly reported mechanisms are infiltration of the anterior chamber by neurofibromas that obstruct the angle, secondary angle closure by neurofibromatous cysts or increased thickness of the ciliary body and choroid, neovascular glaucoma, and developmental angle abnormalities [ 34 – 36 ]. Optical coherence tomography of the anterior chamber and ultrasound biomicroscopy can show Lisch nodules and abnormalities of the ciliary body and chamber angle involved in glaucoma onset [ 37 – 39 ].…”

Section: Neurofibromatosis Type Imentioning

confidence: 99%

An Update on the Ophthalmologic Features in the Phakomatoses

Abdolrahimzadeh

Plateroti

Recupero³

et al. 2016

Journal of Ophthalmology

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Neurofibromatosis type 1, tuberous sclerosis complex, and Von Hippel-Lindau disease, historically classified as the phakomatoses, are hereditary multisystem disorders characterized by the presence of hamartoma, which carry the risk of malignant transformation. The alteration of tumor suppressor genes seems to be at the basis of their pathophysiogenetic mechanism. Lisch and choroidal nodules in neurofibromatosis type 1, retinal astrocytomas in tuberous sclerosis complex, and retinal capillary hemangioma in Von Hippel-Lindau disease are the principal ophthalmic hamartomatous manifestations. The advent of novel imaging techniques such as near infrared reflectance and optical coherence tomography has provided unprecedented insight on the choroidal and retinal features of these diseases. These methods have improved early diagnosis and the ongoing surveillance in these conditions. Among an array of treatment modalities, antivascular endothelial growth factor therapy has been used in the management of retinal hamartomas but results have been varied. This review is an update on the pathophysiogenetic mechanisms, ophthalmic manifestations, and novel treatment strategies in the phakomatoses with emphasis on the role of imaging techniques.

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Ciliary body cysts in neurofibromatosis: A new coexistence?

Abstract: The coexistence of ciliary body cysts and NF1, and the effect of these cysts in the eye should be enlightened with further studies.

Cited by 9 publications

References 21 publications

Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management

Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management

Whole‐genome copy number variation analysis in anophthalmia and microphthalmia

An Update on the Ophthalmologic Features in the Phakomatoses

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