Literature DB >> 27921132

[Differential diagnosis of juvenile normal pressure glaucoma].

K Geidel1, P Wiedemann2, J D Unterlauft2.   

Abstract

The case of a 50-year-old female patient with autosomal dominant optic atrophy is described, which was initially misinterpreted and treated as normal pressure glaucoma. Bilateral partial optic atrophy can be diagnosed by chance with mild manifestation of symptoms and can initially be misinterpreted as glaucoma. Taking a detailed medical history and performing a thorough optic nerve head examination can raise the suspicion of hereditary optic atrophy. The reliable detection of autosomal dominant optic atrophy by genetic investigations should be strived for in such cases.

Entities:  

Keywords:  Autosomal dominant; Glaucoma; Hereditary; Normal pressure glaucoma; Optic atrophy

Mesh:

Substances:

Year:  2017        PMID: 27921132     DOI: 10.1007/s00347-016-0407-5

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN: 0941-293X            Impact factor:   1.059


  5 in total

Review 1.  Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.

Authors:  M Votruba; A T Moore; S S Bhattacharya
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

Review 2.  Hereditary optic neuropathies.

Authors:  N J Newman; V Biousse
Journal:  Eye (Lond)       Date:  2004-11       Impact factor: 3.775

Review 3.  Molecular genetic basis of primary inherited optic neuropathies.

Authors:  M Votruba
Journal:  Eye (Lond)       Date:  2004-11       Impact factor: 3.775

4.  The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.

Authors:  Patrick Yu-Wai-Man; Philip G Griffiths; Ailbhe Burke; Peter W Sellar; Michael P Clarke; Lawrence Gnanaraj; Desiree Ah-Kine; Gavin Hudson; Birgit Czermin; Robert W Taylor; Rita Horvath; Patrick F Chinnery
Journal:  Ophthalmology       Date:  2010-04-24       Impact factor: 12.079

Review 5.  Inherited mitochondrial optic neuropathies.

Authors:  P Yu-Wai-Man; P G Griffiths; G Hudson; P F Chinnery
Journal:  J Med Genet       Date:  2008-11-10       Impact factor: 6.318

  5 in total

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