Abstract：
PURPOSE:Congenital anophthalmia (A) and microphthalmia (M) are rare developmental defects, which could be isolated or syndromic. Our objective was to describe a cohort of children and young adults with A/M treated with ocular prosthesis, emphasizing clinical features, diagnosis, treatment, and follow-up. METHODS:Eighteen individuals (10 female) with unilateral A (n = 3) and M (n = 15) with a mean age of 9.5 years (range 0.8-31.8) and treated with ocular prosthesis were included. Data on medical history, clinical examinations and management of ocular prosthesis were collected. Genetic screening with microarray and whole-exome sequencing targeting 121 A/M-related genes was performed. RESULTS:A/M appeared isolated (seven cases) or as part of a syndromic condition (11 cases). In 4/16 patients, mutations were detected in TFAP2A, CHD7, FOXE3 and BCOR-genes. In one patient, a possibly causal microdeletion 10q11 was shown. Associated ocular anomalies such as cataract and cysts were found in 16 (89%) of the A/M eyes, and in nine (50%) ophthalmological findings were found in the fellow eyes. The median ages at which the conformer and ocular prosthesis first were initiated were 7.8 months and 1.5 years. 16/17 patients fulfilled satisfactory orbital growth and cosmetic results when treated with ocular prosthesis from an early age. CONCLUSION:Based upon our findings, a multidisciplinary approach, including genetic assessment, is necessary to cover all aspects of A/M. Imaging, ultrasound and visual evoked potentials should be included. Early management is crucial for the outcome, in terms of non-ocular findings, vision in the fellow eye, and for facial cosmetic development.
journal_name
Acta Ophthalmoljournal_title
Acta ophthalmologicaauthors
Taha Najim R,Topa A,Jugård Y,Casslén B,Odersjö M,Andersson Grönlund Mdoi
10.1111/aos.14427subject
Has Abstractpub_date
2020-12-01 00:00:00pages
848-858issue
8eissn
1755-375Xissn
1755-3768journal_volume
98pub_type
杂志文章abstract：PURPOSE:To compare changes in macular pigment optical density (MPOD) and serum lutein concentration between free lutein and lutein esters supplements in healthy Japanese individuals. METHODS:Twenty healthy subjects (age range, 22-47 years) were recruited into this prospective, randomized, doubled-blind comparative stu...
journal_title：Acta ophthalmologica
pub_type： 杂志文章,随机对照试验
doi：10.1111/aos.13106
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abstract：PURPOSE:Pathological alterations within optic nerve axons and progressive loss of the parental retinal ganglion cell (RGC) bodies are characteristics of glaucomatous neuropathy. Abnormally elevated intraocular pressure (IOP) is thought to be the major risk factor for most forms of glaucomatous changes, while lowering o...
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journal_title：Acta ophthalmologica
pub_type： 杂志文章,多中心研究
doi：10.1111/aos.13956
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abstract：PURPOSE:To compare subconjunctival scarring after vitrectomy in rabbit eyes using different gauge systems by analysing anterior segment optical coherence tomography (AS-OCT) images and histological sections. METHODS:Vitrectomy using 20-, 23-, 25- and 27-gauge systems was performed for rabbits. Anterior segment optical...
journal_title：Acta ophthalmologica
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journal_title：Acta ophthalmologica
pub_type： 杂志文章
doi：10.1111/aos.13047
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doi：10.1111/aos.13646
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abstract：:Working at the nanoscale means to completely rethink how to approach engineering in the body in general and in the eye in particular. In nanomedicine, tissue engineering is the ability to influence an environment either by adding, subtracting or manipulating that environment to allow it to be more conducive for its pu...
journal_title：Acta ophthalmologica
pub_type： 杂志文章,评审
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journal_title：Acta ophthalmologica
pub_type： 杂志文章
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pub_type： 杂志文章
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journal_title：Acta ophthalmologica
pub_type： 杂志文章
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pub_type： 杂志文章
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更新日期：2016-12-01 00:00:00
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pub_type： 杂志文章
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更新日期：2018-03-01 00:00:00
abstract：PURPOSE:Complex segregation analysis of 60 unrelated sporadic keratoconus (KC) families was performed to reveal the presumed mode of inheritance in our dataset. METHODS:Sixty probands, 212 family members and 212 age and gender matched healthy controls underwent clinical and videokeratographic examination. Family aggre...
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pub_type： 杂志文章
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pub_type： 杂志文章,评审
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pub_type： 杂志文章
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pub_type： 杂志文章
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更新日期：2020-11-01 00:00:00
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pub_type： 杂志文章
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更新日期：2013-09-01 00:00:00
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journal_title：Acta ophthalmologica
pub_type： 杂志文章
doi：10.1111/aos.12093
更新日期：2014-05-01 00:00:00
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pub_type： 杂志文章
doi：10.1111/j.1755-3768.2010.02102.x
更新日期：2011-06-01 00:00:00
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journal_title：Acta ophthalmologica
pub_type： 历史文章,杂志文章
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更新日期：2016-03-01 00:00:00
abstract：PURPOSE:To assess the postoperative stability of three-piece intraocular lens (IOL) implants using ultrasound biomicroscopy (UBM). METHODS:This is a prospective observational cohort case series. Best-corrected visual acuity (BCVA) assessment, slit lamp examination, refraction and UBM evaluation were performed preopera...
journal_title：Acta ophthalmologica
pub_type： 杂志文章
doi：10.1111/j.1755-3768.2010.01880.x
更新日期：2012-03-01 00:00:00
abstract：PURPOSE:To evaluate the diagnostic capacity of the Ocular Response Analyser's keratoconus match index (KMI) and keratoconus match probability (KMP) classification in a sample of keratoconus (KC) patients. METHODS:Keratoconus match index and KMP from 114 KC eyes, randomly selected from 114 patients with bilateral kerat...
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pub_type： 杂志文章
doi：10.1111/aos.12056
更新日期：2013-06-01 00:00:00
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journal_title：Acta ophthalmologica
pub_type： 传,历史文章,杂志文章
doi：10.1111/j.1755-3768.2009.01679.x
更新日期：2011-05-01 00:00:00
abstract：PURPOSE:To report the prevalence of pseudoexfoliation (PEX) syndrome and glaucoma associated with PEX (PEX-G) and their relating factors of them in a south-western island of Japan. METHODS:A population-based survey of all residents aged ≥ 40 years was conducted in Kumejima, Okinawa, Japan, and 3762 subjects (participa...
journal_title：Acta ophthalmologica
pub_type： 杂志文章
doi：10.1111/aos.14396
更新日期：2020-11-01 00:00:00
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pub_type： 杂志文章
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更新日期：2014-08-01 00:00:00
