Ocular Manifestations of Donnai Barrow Syndrome

Ayoub Redouan; Hind Hamdani; Soukaina Amrani; Loubna El Maaloum; Bouchra Allali; Asmae El Kettani

doi:10.24018/ejmed.2020.2.6.605

Case Study

Ayoub Redouan

Hassan II University, Morocco

* Corresponding author

Hind Hamdani

Hassan II University, Morocco

Soukaina Amrani

Hassan II University, Morocco

Loubna El Maaloum

Hassan II University, Morocco

Bouchra Allali

Hassan II University, Morocco

Asmae El Kettani

Hassan II University, Morocco

10.24018/ejmed.2020.2.6.605

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Submitted 2020-12-06
Published 2020-12-16

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Abstract

Donnai-Barrow syndrome is an autosomal recessive disease due to mutations in the LRP2 gene described by Donnai and Barrow in 1993. We report through this clinical case the various ophthalmologic and extraocular manifestations of Donnai Barrow syndrome which remains a very rare congenital malformation. High myopia is a risk factor for severe amblyopia and/or retinal detachment which requires a regular monitoring.

The management of this disabling disease is multidisciplinary, involving the ophthalmologist, the otorhinolaryngologist, the pediatrician and the psychiatrist.

Keywords: Donnai-Barraow syndrome, high myopia, amblyopia, retinal detachment

References

Donnai D, Barrow M. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder. Am J Med Genet 1993;47 :679e82.
DOI | Google Scholar

Kantarci S, Donnai D, Noonan KM et al. Donnai Barrow Syndrome. GeneReviews at Genetets. 1993-2008. Available at http:// www.genetests.org. Accessed August 28, 2010.
Google Scholar

Stora S, Conte M, Chouery E, Richa S, Jalkh N, Gillart A-C, Joannis AL, Mégarbané A. A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation. Eur J Med Genet. 2009 Oct;52(5):341–43.
DOI | Google Scholar

Assemat E, Chatelet F, Chandellier J, et al. Overlapping expression patterns of the multiligand endocytic receptors cubilin and megalin in the CNS, sensory organs, and developing epithelia of the rodent embryo. Gene Expr Patterns 2005; 6:69-78.
DOI | Google Scholar

Anglani F, Terrin L, Brugnara M et al. Hypercalciuria and nephrolithiasis: expanding the renal phenotype of Donnai-Barrow syndrome. Clin Genet. 2018; 94:187–8.
DOI | Google Scholar

Patel N, Hejkal T, Katz A, Margalit E. Ocular manifestations of Donnai-Barrow syndrome. J Child Neurol. 2007 ;22 :462–4.
DOI | Google Scholar

Mauro Longoni, Sibel Kantarci, Dian Donnai et al. Donnai-Barrow Syndrome. Gene Reviews. 20301732.
Google Scholar

Pober BR, Longoni M, Noonan KM. A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis. Birth Defects Res A Clin Mol Teratol. 2009; 85:76–81.
DOI | Google Scholar

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Ocular Manifestations of Donnai Barrow Syndrome. (2020). European Journal of Medical and Health Sciences, 2(6). https://doi.org/10.24018/ejmed.2020.2.6.605

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Vol. 2 No. 6 (2020)

[1] Donnai D, Barrow M. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder. Am J Med Genet 1993;47 :679e82.
DOI | Google Scholar

[2] Kantarci S, Donnai D, Noonan KM et al. Donnai Barrow Syndrome. GeneReviews at Genetets. 1993-2008. Available at http:// www.genetests.org. Accessed August 28, 2010.
Google Scholar

[3] Stora S, Conte M, Chouery E, Richa S, Jalkh N, Gillart A-C, Joannis AL, Mégarbané A. A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation. Eur J Med Genet. 2009 Oct;52(5):341–43.
DOI | Google Scholar

[4] Assemat E, Chatelet F, Chandellier J, et al. Overlapping expression patterns of the multiligand endocytic receptors cubilin and megalin in the CNS, sensory organs, and developing epithelia of the rodent embryo. Gene Expr Patterns 2005; 6:69-78.
DOI | Google Scholar

[5] Anglani F, Terrin L, Brugnara M et al. Hypercalciuria and nephrolithiasis: expanding the renal phenotype of Donnai-Barrow syndrome. Clin Genet. 2018; 94:187–8.
DOI | Google Scholar

[6] Patel N, Hejkal T, Katz A, Margalit E. Ocular manifestations of Donnai-Barrow syndrome. J Child Neurol. 2007 ;22 :462–4.
DOI | Google Scholar

[7] Mauro Longoni, Sibel Kantarci, Dian Donnai et al. Donnai-Barrow Syndrome. Gene Reviews. 20301732.
Google Scholar

[8] Pober BR, Longoni M, Noonan KM. A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis. Birth Defects Res A Clin Mol Teratol. 2009; 85:76–81.
DOI | Google Scholar

Ocular Manifestations of Donnai Barrow Syndrome

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