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Posters

Complete stationary night blindness with normal fundus, moderate myopia and no visual acuity reduction. The significance of electrodiagnostics and genetic testing and counselling

Poster Details

First Author: T.Lalias GREECE

Co Author(s):    E. Kanonidou                  0   0 0   0 0   0 0   0 0

Abstract Details



Purpose:

To present a case with complete stationary night blindness (cCSNB) with normal fundus, moderate myopia and normal visual acuity.

Setting:

Department of Ophthalmology, 212 Military Hospital of Xanthi, Xanthi, Greece/Department of Ophthalmology, ‘’Hippokrateion’’General Hopsital of Thessaloniki, Thessaloniki, Greece.

Methods:

Male patient 34 years old who worked in military service presented with reduced sensitivity at low luminance since the last 10 years. He mentioned that during night training exercises his vision and sensitivity were significantly reduced compared to his colleagues. The patient suffered from moderate myopia (5D) that was treated with LASIK 10 years ago. His first cousin also suffered from night blindness symptoms with no further evaluation of his condition. His systemic history was clear.

Results:

From the ophthalmological examination: Visual acuity RE/LE 10/10cc, Amsler grid test (-), normal colour vision examination (pseudoishochromatic plates/ ishihara score 13/13), IOP RE/LE 10mmHg, anterior segment normal (posterior polar cataract bilaterally, not visually significant though), fundus: c/d ratio 0.5, macula/blood vessels normal. The patient was referred for evaluation with optical coherence tomography, autofluorescence and electrophysiological testing. The autofluorescence and optical coherence tomography findings were normal. The electrophysiological testing (PERG, ERG) revealed findings compatible with retinal disorder involving both rod and cone receptors post-synaptically mainly at the level of bipolar (ON-) cells. The findings were in agreement with cCSNB diagnosis and genetic testing was recommended.

Conclusions:

The electrophysiological testing for the diagnosis, pathogenesis evaluation, prognosis and understanding of genetics underlying retinal disorders is significant. The genetic testing for confirmation of diagnosis and genetic counseling for the likelihood of a disorder appearance in a family are increasingly more involved in clinical practice.

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