Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis

• Type: Article in International Scientific Journal
• Date: 2005

Authors

Teixeira, C (Author) Other; Rocha-Sousa A (Author) FMUP; Trump, D (Author) Other; Brandao, E (Author) Other; Falcão-Reis F (Author) FMUP

Journal

Title: European Journal of Ophthalmology

Vol. 15

Pages: 638-640

ISSN: 1120-6721

Publisher: WICHTIG PUBLISHING

Indexing

ISI Web of Knowledge - 2 Citations

Scopus - 3 Citations

Other information

Authenticus ID: P-000-1J1

DOI: 10.1177/112067210501500515

Abstract (EN): PURPOSE. To characterize electroretinogram. (ERG) and molecular genetic findings in a family with XLRS1 mutation. The authors present two cases of a Portuguese family with juvenile retinoschisis with a mutation in exon 6. METHODS. Two brothers and their parents, grandmother, and uncle underwent a full ophthalmic examination. The two brothers with ophthalmic disease were evaluated with color fundus photography, fluorescein angiography, optical coherence tomography (OCT), molecular genetic study (Group VI of Retinoschisis Consortium), pattern visual evoked potential (PVEP), and full field ERG. RESULTS. Both patients presented funduscopic manifestations of vitreoretinal degeneration. They presented peripheral schisis and retinal detachment. However, foveal schisis had never been observed at funduscopy. A negative ERG was recorded in both. Six months after that, the younger brother showed atypical foveal schisis at fundus examination. A retinoschisis gene (XLRS1) mutation with transition of cytosine by thymine at position 608 (608C>T) had been identified in both. CONCLUSIONS. Negative ERG is the most secure clinical marker to establish the diagnosis of juvenile retinoschisis. XLRS1 gene 608C>T mutation was described for the first time in a Portuguese family.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 3