Ocular manifestations in phakomatosis pigmentovascularis: Current concepts on pathogenesis, diagnosis, and management

Abdolrahimzadeh, Solmaz; Pugi, Damiano Maria; Paula, Alessandro de; Scuderi, Gianluca

doi:10.1016/j.survophthal.2020.10.002

Cited by 11 publications

(21 citation statements)

References 121 publications

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“…This atypical presentation has a small number of precedents and may have been affected by the presence of nevus of Ota with PPV [ 13 ]. Other cases of PPV with ocular involvement have been reported with both bilateral [ 14 ] and unilateral presentation [ 15 , 16 ].…”

Section: Discussionmentioning

confidence: 99%

Bilateral Phakomatosis Cesiomarmorata With Ocular Melanocytosis and Secondary Glaucoma

Khan

Sesma

Jaloud

2022

Cureus

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Phakomatosis pigmentovascularis (PPV) is a family of rare congenital diseases where vascular malformation coexists with melanocytic, dermal, or ocular lesions. The cesiomarmorata type is even rarer, and most such cases are reported with unilateral occurrence. We present an atypical case of a patient with bilateral phakomatosis cesiomarmorata, bilateral ocular melanocytosis, and bilateral glaucoma. No malformation to resist aqueous drainage was identified. Long-term management of intraocular pressure (IOP) using topical antiglaucoma medication was successful. This case report refines the clinical presentation of phakomatosis cesiomarmorata and may help diagnose and treat future cases.

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Section: Discussionmentioning

confidence: 99%

Bilateral Phakomatosis Cesiomarmorata With Ocular Melanocytosis and Secondary Glaucoma

Khan

Sesma

Jaloud

2022

Cureus

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“…Similar to our results, Teekhasaenee et al [26] proposed that the coexistence of naevus flammeus and oculodermal melanocytosis was associated with congenital glaucoma in patients with PPV. Aqueous outflow obstruction, secondary to excessive melanocytes of the trabecular meshwork, leads to high IOP [8]. Based on this theory, the extent of elevated IOP possibly depends on the number of melanocytes in the context of facial PWS.…”

Section: Discussionmentioning

confidence: 99%

“…Challenging management of the related glaucoma has been reported previously [6,7]. Multiple mechanisms may be involved in the etiopathogenesis of glaucoma in PPV [8] but currently remain ambiguous. Recognition of the risk factors and the earliest possible detection of glaucoma are critical in preserving visual function.…”

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confidence: 99%

The risk of glaucoma associated with phacomatosis cesioflammea and phacomatosis cesioflammeo-marmorata

Sheng

Yang

Ouyang

et al. 2022

European Journal of Dermatology

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The risk of glaucoma associated with phacomatosis cesioflammea and phacomatosis cesioflammeo-marmorataBackground: The ocular features of phacomatosis pigmentovascularis (PPV) have rarely been reported, and glaucoma is the leading cause of blindness in patients with this condition. To protect vision in these patients, it is important to identify glaucoma as early as possible. Objectives: To systematically report the systemic and ocular manifestations of phacomatosis cesioflammea and phacomatosis cesioflammeo-marmorata, and to investigate a glaucoma risk scoring system. Materials & Methods: In this prospective study, patients with PPV from 2014 to 2021 were included. Clinical information was collected, and associations with glaucoma were evaluated. The suitability of the scoring system was assessed. A systematic literature review and analysis of reported cases of PPV was performed. Results: A total of 28 participants with PPV were included. Their ocular findings were similar, ranging from episcleral hyperpigmentation (78.5%), glaucoma (75%), choroid haemangioma (38%), and retinal vascular abnormalities (48%), to hyperpigmentation of the cornea, iris, lens and fundus. Glaucoma was associated with multiple factors, especially a thick choroid (odds ratio: 2.61; p = 0.008) and a diffuse mass-type of episcleral hyperpigmentation (odds ratio: 41.3; p = 0.027). The risk scoring system was characterized by high sensitivity (84%) and specificity (80%; AUC = 0.91) in predicting glaucoma. Conclusion: In addition to involving the systemic system, phacomatosis cesioflammea and phacomatosis cesioflammeomarmorata also represent a specific spectrum of ophthalmic vascular malformations and hyperpigmentation. Early and periodic detailed ocular examination are recommended. The novel scoring system will help to tailor follow-up for visual protection.

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“…ODM is also a risk factor for the development of atypical presentations of uveal melanoma, such as bilateral and multifocal melanoma [23,37]. A somatic activating mutation of the guanine nucleotide-binding protein (GNAQ) gene or a biallelic mutation of the BAP1 gene was reported in 85% of uveal melanomas and 15% of ODM [38]. GNAQ and BAP1 mutations were reported to predispose to metastatic tumor progression [39].…”

Section: Melanomamentioning

confidence: 99%

An update on ophthalmological perspectives in oculodermal melanocytosis (Nevus of Ota)

Abdolrahimzadeh

Pugi

Manni

et al. 2022

Graefes Arch Clin Exp Ophthalmol

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Purpose To provide a review of the literature on oculodermal melanocytosis (ODM) with a focus on the diagnostic and therapeutic implications of multimodal imaging techniques in the management of ophthalmic complications. Methods The authors carried out a literature search on PubMed, Medline, and Scopus of English language articles published on ODM through August 2021. This review presents traditional and novel diagnostic methods in the diagnosis and follow-up of patients with particular emphasis on addressing the role of imaging in the management of the ophthalmic complications of the condition towards improving current practice patterns. Results ODM is a rare, prevalently unilateral, congenital condition that presents with brown or blue/gray flat asymptomatic lesions of the skin, mucosae, episclera/sclera, and uvea localized within the territory of distribution of the ophthalmic and mandibular branches of the trigeminal nerve. Glaucoma and predisposition to uveal melanoma are the main ophthalmic complications. Diagnosis and management are through comprehensive opthalmological examination and traditional imaging methods such as ultrasonography and fluorescein/indocyanine green angiography as pigmentation of the fundus can conceal subtle retinal and choroidal alterations. Anterior segment optical coherence tomography and ultrasound biomicroscopy are used to evaluate the anterior segment and the ciliary body in the presence of glaucoma or melanoma of the anterior uveal tract. Fundus autofluorescence and retinal pigment epithelium (RPE) alterations are of aid in the differential diagnosis between choroidal nevi and melanoma. Enhanced depth imaging spectral domain optical coherence tomography offers outstanding in vivo evaluation of the dimensions and details of tumors or nevi and surrounding choroidal tissues and small choroidal melanomas may show distortions of the retinal and sub-retinal profile, presence of intra and sub-retinal fluid, abnormalities of the RPE, and compression of the choriocapillaris. Conclusions Novel multimodal imaging techniques are significant in the diagnosis and management of the ophthalmic complications of ODM. Fundus autofluorescence and enhanced depth spectral domain optical coherence tomography have adjunctive value in the detection of early-stage melanoma and differential diagnosis between nevi and melanoma. Awareness of current and emerging imaging techniques can propagate improved standardized definition and assessment of the complications of ODM.

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Ocular manifestations in phakomatosis pigmentovascularis: Current concepts on pathogenesis, diagnosis, and management

Cited by 11 publications

References 121 publications

Bilateral Phakomatosis Cesiomarmorata With Ocular Melanocytosis and Secondary Glaucoma

Bilateral Phakomatosis Cesiomarmorata With Ocular Melanocytosis and Secondary Glaucoma

The risk of glaucoma associated with phacomatosis cesioflammea and phacomatosis cesioflammeo-marmorata

An update on ophthalmological perspectives in oculodermal melanocytosis (Nevus of Ota)

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