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Foveal hypoplasia in a Chinese adolescent with 48, XXYY syndrome

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收录情况： ◇ SCIE

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机构： [1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China. [2]Department of Ophthalmology, Beijing Friendship Hospital, Capital Medical University, Beijing, China. [3]Centre for Ophthalmology and Visual Science (Lions Eye Institute), The University of Western Australia, Nedlands, Australia. [4]Ophthalmology, Department of Surgery, University of Melbourne, East Melbourne, Australia.

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关键词： 48 XXYY syndrome foveal hypoplasia OCT OCTA

摘要：

48, XXYY syndrome is a rare sex chromosome aneuploidy with severe systemic features. Ophthalmic manifestation of 48, XXYY syndrome include hypertelorism, epicanthic folds, hooded eye lids, strabismus, retinitis pigmentosa and Duane's syndrome.We present mild foveal hypoplasia in a 12-year-old boy with 48, XXYY syndrome using swept-source optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). The boy was referred for assessment of strabismus and poor visual acuity. OCT revealed persistence of inner retinal layers, and thinning of the outer nuclear layer in the perifoveal region with thickening of the outer plexiform layer. OCTA revealed increased vessel density with reduced foveal avascular zone.We described novel OCT and OCTA features of bilateral foveal hypoplasia and reduction of FAZ in a case of 48, XXYY syndrome based on detailed clinical observation and thorough genetic testing. This case expanded the current literature of this rare sex chromosome abnormality and suggest the importance of retinal examinations in 48, XXYY syndrome.

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出版当年[2023]版：

大类 | 4 区医学

小类 | 4 区遗传学 4 区眼科学

最新[2023]版：

大类 | 4 区医学

小类 | 4 区遗传学 4 区眼科学

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出版当年[2022]版：

Q4 GENETICS & HEREDITY Q4 OPHTHALMOLOGY

最新[2023]版：

Q3 OPHTHALMOLOGY Q4 GENETICS & HEREDITY

影响因子： 1.2 最新[2023版] 1.4 最新五年平均 1.2 出版当年[2022版] 1.4 出版当年五年平均 1.274 出版前一年[2021版] 1.2 出版后一年[2023版]

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第一作者机构： [1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.

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通讯机构： [1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China. [*1]Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, No 1, Dongjiaominxiang Street, Dongcheng District, Beijing 100730, China

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