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Anophthalmia and microphthalmia

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2007
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  • Good Attention Score compared to outputs of the same age (74th percentile)

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1 X user
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9 Wikipedia pages

Citations

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317 Dimensions

Readers on

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304 Mendeley
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1 CiteULike
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2 Connotea
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Title
Anophthalmia and microphthalmia
Published in
Orphanet Journal of Rare Diseases, November 2007
DOI 10.1186/1750-1172-2-47
Pubmed ID
Authors

Amit S Verma, David R FitzPatrick

Abstract

Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem examination and genetic studies suggest that these conditions represent a phenotypic continuum. Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome, as in one-third of cases. Anophthalmia/microphthalmia have complex aetiology with chromosomal, monogenic and environmental causes identified. Chromosomal duplications, deletions and translocations are implicated. Of monogenic causes only SOX2 has been identified as a major causative gene. Other linked genes include PAX6, OTX2, CHX10 and RAX. SOX2 and PAX6 mutations may act through causing lens induction failure. FOXE3 mutations, associated with lens agenesis, have been observed in a few microphthalmic patients. OTX2, CHX10 and RAX have retinal expression and may result in anophthalmia/microphthalmia through failure of retinal differentiation. Environmental factors also play a contributory role. The strongest evidence appears to be with gestational-acquired infections, but may also include maternal vitamin A deficiency, exposure to X-rays, solvent misuse and thalidomide exposure. Diagnosis can be made pre- and post-natally using a combination of clinical features, imaging (ultrasonography and CT/MR scanning) and genetic analysis. Genetic counselling can be challenging due to the extensive range of genes responsible and wide variation in phenotypic expression. Appropriate counselling is indicated if the mode of inheritance can be identified. Differential diagnoses include cryptophthalmos, cyclopia and synophthalmia, and congenital cystic eye. Patients are often managed within multi-disciplinary teams consisting of ophthalmologists, paediatricians and/or clinical geneticists, especially for syndromic cases. Treatment is directed towards maximising existing vision and improving cosmesis through simultaneous stimulation of both soft tissue and bony orbital growth. Mild to moderate microphthalmia is managed conservatively with conformers. Severe microphthalmia and anophthalmia rely upon additional remodelling strategies of endo-orbital volume replacement (with implants, expanders and dermis-fat grafts) and soft tissue reconstruction. The potential for visual development in microphthalmic patients is dependent upon retinal development and other ocular characteristics.

X Demographics

X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 304 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 3 <1%
United States 3 <1%
Italy 1 <1%
Malaysia 1 <1%
Canada 1 <1%
Chile 1 <1%
Unknown 294 97%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 48 16%
Student > Ph. D. Student 40 13%
Student > Master 31 10%
Researcher 25 8%
Student > Postgraduate 20 7%
Other 58 19%
Unknown 82 27%
Readers by discipline Count As %
Medicine and Dentistry 92 30%
Agricultural and Biological Sciences 51 17%
Biochemistry, Genetics and Molecular Biology 40 13%
Neuroscience 10 3%
Social Sciences 5 2%
Other 21 7%
Unknown 85 28%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 18 February 2024.
All research outputs
#7,749,485
of 24,857,051 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,110
of 2,985 outputs
Outputs of similar age
#41,444
of 166,604 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#6
of 8 outputs
Altmetric has tracked 24,857,051 research outputs across all sources so far. This one has received more attention than most of these and is in the 68th percentile.
So far Altmetric has tracked 2,985 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.1. This one has gotten more attention than average, scoring higher than 61% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 166,604 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 74% of its contemporaries.
We're also able to compare this research output to 8 others from the same source and published within six weeks on either side of this one. This one has scored higher than 2 of them.