Abstract:
:Background: Patients with intellectual disability syndromes frequently have coexisting abnormalities of ocular structures and the visual pathway system. The microphthalmos, anophthalmos, and coloboma (MAC) spectrum represent structural developmental eye defects that occur as part of a syndrome in one-third of cases. Ophthalmic examination may provide important diagnostic clues in identifying these syndromes.Purpose: To provide a detailed and comprehensive description of the microphthalmos, anophthalmos, and coloboma (MAC) spectrum in two brothers with intellectual disability and dysmorphism.Methods: The two brothers underwent a detailed ophthalmic and systemic evaluation. A family pedigree was obtained and exome sequencing was performed in the proband.Results: The two brothers aged 4 and 7 years had intellectual disability, microcephaly, short stature, and characteristic dysmorphic features. Ophthalmic evaluation revealed the presence of the MAC spectrum in both boys. Genetic testing led to the detection of an X-linked hemizygous truncating mutation in the nuclear polyglutamine-binding protein 1 (PQBP1) gene confirming the diagnosis of X-linked recessive Renpenning syndrome.Conclusion: The presence of X-linked intellectual disability and characteristic dysmorphism, in a patient with the MAC spectrum should raise the suspicion of Renpenning syndrome. PQBP1 mutation testing is confirmatory. A comprehensive systemic evaluation is mandatory in all patients with the MAC spectrum and intellectual disability.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Mameesh MM,Al-Kindy A,Al-Yahyai M,Ganesh Adoi
10.1080/13816810.2019.1686158subject
Has Abstractpub_date
2019-12-01 00:00:00pages
534-540issue
6eissn
1381-6810issn
1744-5094journal_volume
40pub_type
杂志文章abstract::One of the treatment options for intraocular retinoblastoma is thermochemotherapy with diode laser combined with chemotherapy. Very little is known about the evolution of laser scars resulting from diode laser treatment for retinoblastoma. We report a case of atrophic chorioretinal scar and focal scleral bowing after ...
journal_title:Ophthalmic genetics
pub_type: 信件
doi:10.1080/13816810500481907
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pub_type: 杂志文章
doi:10.3109/13816819709057126
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pub_type: 杂志文章
doi:10.3109/13816810.2014.886272
更新日期:2015-01-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.1080/13816810802697473
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journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819609057112
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pub_type: 杂志文章
doi:10.3109/13816810.2011.628358
更新日期:2012-03-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2020.1755989
更新日期:2020-08-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.3109/13816810.2011.565397
更新日期:2011-09-01 00:00:00
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pub_type: 杂志文章
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doi:10.1080/13816810802216472
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pub_type: 杂志文章
doi:10.1080/13816810701531260
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2013.766218
更新日期:2014-03-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.746377
更新日期:2013-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.921314
更新日期:2014-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2015.1010735
更新日期:2015-06-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.3109/13816819509057855
更新日期:1995-12-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.1080/13816810.2020.1778736
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pub_type: 杂志文章
doi:10.3109/13816810.2012.719058
更新日期:2013-03-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2016.1253104
更新日期:2017-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.22.2.107.2226
更新日期:2001-06-01 00:00:00