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Reliability of optic disc edema area in estimating the severity of papilledema in patients with POEMS syndrome.

ABSTRACT: BACKGROUND:Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes (POEMS) syndrome is a rare paraneoplastic syndrome involving multisystem. Optic disc edema (ODE) is the most common ocular manifestation in patients with POEMS syndrome and serves as an independent prognostic factor. However, parameters previously used to estimate its severity were inconvenient and costly. This study was designed to bring forward a novel and practical parameter, optic disc edema area, to evaluate ODE in patients with this disease and applied it to assess effectiveness of lenalidomide combined with dexamethasone in respect of ODE. RESULTS:Forty-one treatment-naive patients with POEMS syndrome were enrolled in this single-center prospective study and treated with lenalidomide combined with dexamethasone. They received ocular examination to determine optic disc edema (ODE) area and other optic manifestations. Meanwhile, serum VEGF was measured before and after treatment. Among 41 enrolled patients, 38 received complete ocular examinations, and 25 of which had ODE at initial visit. Binocular mean ODE area of patients with ODE was significantly related to ODE grade (r?=?0.620, p?=?0.003) and peripapillary retinal thickness (r?=?0.760, p?

SUBMITTER: Liu LS

PROVIDER: S-EPMC7238582 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Reliability of optic disc edema area in estimating the severity of papilledema in patients with POEMS syndrome.

Liu Ling-Shan LS Zhang Xiao X Zhao Hao H Gao Xue-Min XM Zhou Dao-Bin DB Dai Rong-Ping RP Li Jian J

Orphanet journal of rare diseases 20200519 1

<h4>Background</h4>Polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes (POEMS) syndrome is a rare paraneoplastic syndrome involving multisystem. Optic disc edema (ODE) is the most common ocular manifestation in patients with POEMS syndrome and serves as an independent prognostic factor. However, parameters previously used to estimate its severity were inconvenient and costly. This study was designed to bring forward a novel and practical parameter, optic disc ede ...[more]

PMID: 32429967

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Project description:BackgroundCohen syndrome (Q87.8;ORPHA:193; OMIM#216550) is an autosomal recessive inherited genetic disorder caused by mutation in the VPS13B/COH1 gene. It is characterized by variable clinical symptoms such as deformity of the head, face, hands and feet, eye abnormalities, abdominal obesity, neutropenia and nonprogressive intellectual disability. The typical lesions in the eyeball in Cohen syndrome include high myopia, retinal dystrophy, strabismus, maculopathy and lens subluxation. The present study describes the coexistence of bilateral macular edema with pale optic disc in a patient with a homozygous deletion in the VPS13B/COH1 gene.Material and methodsA 6-year-old Caucasian girl with facial dysmorphism, microcephaly, prominent upper incisors, narrow hands with slender fingers, congenital heart defect and ophthalmic symptoms was subjected to genetic testing. The genetic evaluation revealed a homozygous deletion on the long arm of chromosome 8 encompassing 20-25 exons of the VPS13 gene, as confirmed by Cohen syndrome. She underwent a full ophthalmological examination with the assessment of slit lamp examination of anterior segment and fundoscopy, refraction error, biometry, central corneal thickness and additionally electroretinography, optical coherence tomography and fundus photography.ResultsIn the ophthalmologic examination, the girl had bilateral astigmatism accompanied by myopia and a marked reduction in central corneal thickness. Fundus examination showed pale optic nerve discs and "salt and pepper" retinopathy. Bilateral cystic macular edema was revealed in handheld optical coherence tomography. Electroretinography showed a reduced response amplitude of cones and rods.ConclusionIn a patient with high myopia, macular edema, pale optic disc and facial dysmorphism, Cohen syndrome should be considered in the differential diagnosis. The severity of individual clinical features in patients with Cohen syndrome varies. It can be assumed that the type of mutation affects the occurrence and severity of individual symptoms.

Dataset Information

Reliability of optic disc edema area in estimating the severity of papilledema in patients with POEMS syndrome.

Publications

Reliability of optic disc edema area in estimating the severity of papilledema in patients with POEMS syndrome.

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