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Documenta Ophthalmologica
Published in: Documenta Ophthalmologica 3/2006

01-11-2006 | CLINICAL CASE REPORTS

A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome)

Author: Michael F. Marmor

Published in: Documenta Ophthalmologica | Issue 3/2006

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Abstract

Poor night vision and pigmentary retinopathy are hallmarks of retinitis pigmentosa, but variations in the type of pigmentation and in the characteristics of the electroretinogram (ERG) can point to other diagnoses. The case below (enhanced S cone syndrome) is a good example of this, and demonstrates the diagnostic importance of clinical electrophysiology.
Literature
1.
Marmor MF, Zrenner E (1999) (for the International Society for Clinical Electrophysiology of Vision). Standard for Clinical Electroretinography (1999 Update). Doc Ophthalmol 97:239–249
2.
Jacobson SG, Roman AJ, Roman BS, Gass JDM, Parker JA (1991) Relatively enhanced S cone function in the Goldmann-Favre syndrome. Am J Ophthalmol 111:446–453PubMed
3.
Marmor MF, Jacobson SG, Foerster MH, Kellner U, Weleber RG (1990) Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol 110:124–134PubMed
4.
Jacobson SG, Marmor MF, Kemp CM, Knighton RW (1990) SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. Invest Ophthalmol Vis Sci 31:827–838PubMed
5.
Haider NR, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC (2000) Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nature Genetics 24:127–131PubMedCrossRef
6.
Marmor MF, Tan F, Sutter EE, Bearse MA (1999) Topography of cone electrophysiology in the enhanced S cone syndrome. Invest Ophthalmol Vis Sci 40:1866–1873PubMed
7.
Marmor MF (1989) Large rod-like photopic signals in a possible new form of congenital night blindness. Doc Ophthalmol 71:265–269PubMedCrossRef
Metadata
Title
A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome)
Author
Michael F. Marmor
Publication date
01-11-2006
Publisher
Springer-Verlag
Published in
Documenta Ophthalmologica / Issue 3/2006
Print ISSN: 0012-4486
Electronic ISSN: 1573-2622
DOI
https://doi.org/10.1007/s10633-006-9031-z

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