Literature DB >> 12747653

Goldmann-Favre vitreoretinal degeneration.

F Batioğlu1.   

Abstract

PURPOSE: To describe a case of Goldmann-Favre vitreoretinal degeneration with typical clinical findings.
METHODS: The case report of a healthy 47-year-old woman with typical clinical findings of Goldmann-Favre vitreoretinal degeneration is presented. She had complaints of reduced visual acuity and night blindness. Her parents were first cousins.
RESULTS: Fundus examination revealed annular pigmentary degenerative changes, macular edema, and peripheral retinoschisis in both eyes. Electroretinography results were abnormal. Optical coherence tomography scans revealed hyporeflective spaces in the macular area and irregularities of the chorioretinal complex in the degenerative pigmentary areas.
CONCLUSIONS: Typical fundus findings combined with night blindness and electroretinogram abnormalities permited the diagnosis of Goldmann-Favre vitreoretinal degeneration.

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Mesh:

Year:  2003        PMID: 12747653     DOI: 10.1177/112067210301300311

Source DB:  PubMed          Journal:  Eur J Ophthalmol        ISSN: 1120-6721            Impact factor:   1.922


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4.  Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.

Authors:  Saoud Al-Khuzaei; Suzanne Broadgate; Stephanie Halford; Jasleen K Jolly; Morag Shanks; Penny Clouston; Susan M Downes
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  4 in total

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