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A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.

ABSTRACT: BACKGROUND:Waardenburg syndrome (WS) is a very rare genetic disorder affecting the neural crest cells. Coexistence of branch retinal vein occlusion (BRVO) and branch retinal artery occlusion (BRAO) in the same eye is also a rare finding. Here we report a case of WS type 1 that was confirmed by a novel mutation with the finding of unilateral BRVO and BRAO. CASE PRESENTATION:A 36-year-old, white-haired Korean man presented with a complaint of loss of vision in the inferior visual field of his right eye and hearing loss. He had telecanthus with a medial eyebrow and a hypochromic left iris. Funduscopy showed an ischemic change at the posterior pole in the right eye with sparing of the foveal center as well as retinal hemorrhages and white patches along the superotemporal arcade. Fundus angiography revealed the presence of both BRVO and BRAO, and optical coherence tomography showed thickening and opacification of the retinal layers corresponding to the ischemic area. A blood workup revealed hyperhomocysteinemia and the presence of antiphospholipid antibodies; both are suggestive as the cause of the BRVO and BRAO. Single nucleotide polymorphism analysis confirmed a novel PAX3 mutation at 2q35 (c.91-95 ACTCC deletion causing a frameshift). These findings confirmed a diagnosis of WS type 1. CONCLUSIONS:WS is a heterogeneous inherited disorder of the neural crest cells that causes pigment abnormalities and sensorineural hearing loss. This is the first report of unilateral BRVO and BRAO in a patient with WS. Furthermore, the PAX3 mutation identified in this patient has not been reported previously.

SUBMITTER: Choi EY

PROVIDER: S-EPMC6186106 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature

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A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.

Choi Eun Young EY Choi Wungrak W Lee Christopher Seungkyu CS

BMC ophthalmology 20181011 1

<h4>Background</h4>Waardenburg syndrome (WS) is a very rare genetic disorder affecting the neural crest cells. Coexistence of branch retinal vein occlusion (BRVO) and branch retinal artery occlusion (BRAO) in the same eye is also a rare finding. Here we report a case of WS type 1 that was confirmed by a novel mutation with the finding of unilateral BRVO and BRAO.<h4>Case presentation</h4>A 36-year-old, white-haired Korean man presented with a complaint of loss of vision in the inferior visual fi ...[more]

PMID: 30314436

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Project description:BackgroundTo study the changes of retinal vascular density (VD), retinal thickness (RT), and their correlations with visual acuity (VA) in branch retinal vein occlusion (BRVO) patients with retinal atrophy after resolution of macular oedema (MO).MethodsThis is a retrospective study consisting of 46 patients diagnosed with BRVO at Beijing Hospital from 2015 to 2019. Patients' 46 affected eyes and 39 fellow eyes were included. The affected eyes were further divided into the atrophy group and the nonatrophy group. Optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) images obtained when MO completely resolved after treatment with ranibizumab were analyzed. We quantitatively measured foveal avascular zone (FAZ) parameters, the disruption extent of ellipsoid zone (EZ), RT, and VD of superficial vascular complex (SVC), and deep vascular complex (DVC) in central fovea and the minimal-VD quadrant. Paired t-tests, independent t-tests, Mann-Whitney U tests, Wilcoxon tests, Pearson correlation analyses, Spearman correlation analyses, and single and multiple linear regression models were adopted.ResultsCompared with nonatrophy eyes, the minimal-VD quadrantal (quadrantal for short) SVC-VD (25.76 ± 4.57% versus 36.21 ± 6.47%, P < 0.001) and quadrantal DVC-VD (27.72 (17.23) % versus 38.95 (11.05) %, P = 0.001) of atrophy eyes decreased significantly. Quadrantal SVC-VD and quadrantal DVC-VD were strongly correlated with quadrantal full RT (r = 0.763 and 0.698, both P < 0.001). The disruption length of EZ was significantly correlated with quadrantal full RT (r = -0.406, P = 0.005) and quadrantal SVC-VD (r = -0.298, P = 0.044). In multiple linear regression analysis, the disruption length of EZ and VA before treatment and age showed significant correlations with VA with complete resolution of MO (P = 0.020, 0.033, and 0.002).ConclusionsThe retinal VD on the affected area correlates well with the corresponding full RT when BRVO-MO completely resolves, suggesting that VD may predict the final RT. Severe decrease in VD may result in retinal atrophy, which may cause VA loss indirectly with the intermediate influencing factor of EZ defects.

Dataset Information

A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.

Publications

A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.

Similar Datasets

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