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Inherited Retinal or Optic Nerve Disorders – Five Steps to Diagnosis (Originaltitel: Erbliche Netzhaut- und Sehbahnerkrankungen – 5 Schritte zur Diagnose)

Kellner, U., Kellner, S., Weinitz, S., Farmand, G., Weber, Bernhard H. F. and Stöhr, Heidi (2015) Inherited Retinal or Optic Nerve Disorders – Five Steps to Diagnosis (Originaltitel: Erbliche Netzhaut- und Sehbahnerkrankungen – 5 Schritte zur Diagnose). Klinische Monatsblätter für Augenheilkunde 232, pp. 250-258.

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Abstract

An early diagnosis of inherited retinal or optic nerve disorders is often delayed due to unspecific clinical signs, multiple clinical manifestations and striking genetic heterogeneity of the underlying molecular defects. This study represents a retrospective analysis of findings in 4,021 patients with inherited retinal or optic nerve disorders seen between 1986 and 2014 (1,171 with follow-up). In ...

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Item type:Article
Date:2015
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1055/s-0034-1396211DOI
25803554PubMed ID
Keywords:inherited retinal dystrophies; inherited optic nerve disorders; fundus autofluorescence; spectral domain OCT; DNA testing
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35162
Owner only: item control page
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