Retinal dysfunction in eyes of patients with BRCA1 gene mutation

Wojciech Lubiński; Bohdan Górski; Zbigniew Szych; Krzysztof Penkala; Olgierd Palacz; Jan Lubiński

eISSN: 2719-3209
ISSN: 0023-2157

Klinika Oczna / Acta Ophthalmologica Polonica

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4/2005
vol. 107

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abstract:

Original paper

Retinal dysfunction in eyes of patients with BRCA1 gene mutation

Wojciech Lubiński

¹

,

Bohdan Górski

²

,

Zbigniew Szych

³

,

Krzysztof Penkala

⁴

,

Olgierd Palacz

¹

,

Jan Lubiński

²

Clinic of Ophthalmology, Pomeranian Medical University, Szczecin, Poland
International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
Department of Hygiene and Epidemiology, Pomeranian Academy of Medicine, Szczecin, Poland
Institute of Electronics, Telecommunications and Information Technology, Technical University of Szczecin, Poland

Klinika Oczna 2005, 107 (4): 603-606

Online publish date: 2005/12/18

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Introduction
To assess the retinal function in BRCA1 gene mutation carriers.

Material and methods
Thirty unaffected patients (60 eyes) with constitutional BRCA1 gene mutation were studied. Flash ERG recordings were performed in accordance with the International Society for Clinical Electrophysiology of Vision (ISCEV) standards.

Results
In ERGs, in the maximal response, amplitude of a-wave (p<0.02) was reduced. In the cone single- flash response, the amplitude of a-wave (p<0.04) was also reduced. In the scotopic oscillatory potentials (OPs), we noted: increased amplitude of OP2 (p<0.0006), increased index of OP amplitude (O1+O2+O3+O4) (p<0.04), and increased latencies of OP1 (<0.05) and OP3 (p<0.004) and OP4 (p<0.03).

Conclusions
Slight dysfunction of rods, cones and inner retinal layers is present in asymptomatic carriers of BRCA1 gene mutation.

keywords:

Retinal dysfunction in eyes of patients with BRCA1 gene mutation

Wojciech Lubiński 1 , Bohdan Górski 2 , Zbigniew Szych 3 , Krzysztof Penkala 4 , Olgierd Palacz 1 , Jan Lubiński 2

BRCA1 gene mutation, retina, flash ERG

Wojciech Lubiński

¹

,

Bohdan Górski

²

,

Zbigniew Szych

³

,

Krzysztof Penkala

⁴

,

Olgierd Palacz

¹

,

Jan Lubiński

²