Literature DB >> 10150831

Ocular manifestations of genetic and developmental diseases.

G Diamond1.   

Abstract

Significant advances were reported this year in our understanding of the association of lens opacities with neurofibromatosis type 2 and the genetics of the aniridia-Wilms' tumor association. The first successful surgical reattachment of detached retinas in patients with incontinentia pigmenti are reported. An important retrospective review of young adults with congenital rubella syndrome implies that the timing of infection during gestation is not related to the incidence of individual ocular conditions. The ophthalmic features of the MELAS syndrome, a mitochondrially inherited encephalomyopathy, are described. Cytogenetic techniques are utilized for the first time to investigate the association between conjunctival and uveal melanomas with the dysplastic nevus syndrome. Familial Duane's syndrome and urogenital abnormalities were associated with a bisatellited marker derived from chromosome 22. Finally, another case of the newly described association of microphthalmia, dermal aplasia, and sclerocornea (MIDAS syndrome) is reported.

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Mesh:

Year:  1994        PMID: 10150831     DOI: 10.1097/00055735-199412000-00012

Source DB:  PubMed          Journal:  Curr Opin Ophthalmol        ISSN: 1040-8738            Impact factor:   3.761


  5 in total

1.  Soluble ICAM-1 serum levels in patients with intermediate uveitis.

Authors:  A M Klok; L Luyendijk; M J Zaal; A Rothova; A Kijlstra
Journal:  Br J Ophthalmol       Date:  1999-07       Impact factor: 4.638

2.  Causes and frequency of blindness in patients with intraocular inflammatory disease.

Authors:  A Rothova; M S Suttorp-van Schulten; W Frits Treffers; A Kijlstra
Journal:  Br J Ophthalmol       Date:  1996-04       Impact factor: 4.638

3.  Elevated serum IL-8 levels are associated with disease activity in idiopathic intermediate uveitis.

Authors:  A M Klok; L Luyendijk; M J Zaal; A Rothova; C E Hack; A Kijlstra
Journal:  Br J Ophthalmol       Date:  1998-08       Impact factor: 4.638

4.  Macular grid laser photocoagulation in uveitis.

Authors:  M S Suttorp-Schulten; E Feron; F Postema; A Kijlstra; A Rothova
Journal:  Br J Ophthalmol       Date:  1995-09       Impact factor: 4.638

Review 5.  Incontinentia pigmenti.

Authors:  Cláudia Schermann Poziomczyk; Júlia Kanaan Recuero; Luana Bringhenti; Fernanda Diffini Santa Maria; Carolina Wiltgen Campos; Giovanni Marcos Travi; André Moraes Freitas; Marcia Angelica Peter Maahs; Paulo Ricardo Gazzola Zen; Marilu Fiegenbaum; Sheila Tamanini de Almeida; Renan Rangel Bonamigo; Ana Elisa Kiszewski Bau
Journal:  An Bras Dermatol       Date:  2014 Jan-Feb       Impact factor: 1.896

  5 in total

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