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Clinical and Genetic Findings in a Patient with Fundus Albipunctatus
1Rüther K., 2Janssen B. P. M., 3Bohne M., 3Reimann J., 2Janssen J. J. M., 2Driessen C. A. G. G.,
1Universitätsklinikum Hamburg-Eppendorf, Klinik und Poliklinik für Augenheilkunde (Hamburg)
2University of Nijmegen, Department of Ophthalmology (Nijmegen)
3Humboldt-Universität zu Berlin, Charité Campus Virchow-Klinikum, Augenklinik (Berlin)
Purpose: Mutations of the gene encoding 11-cis dehydrogenase are associated with Fundus Albipunctatus. The clinical phenotype is characterized by a pronlongation of dark adaptation and the typical fundus picture, but also by cone dysfunction.
Methods: The 38-year-old index patient was examined by visual acuity testing, perimetry, dark adaptometry, funduscopy and electroretinogram (ERG). She was screened for mutations in exons 2-5 and exon/intron boundaries of the 11-cis retinol dehydrogenase gene by direct sequencing.
Results: Visual acuity was 1.0. However, perimetry revealed paracentral scotomas associated with reading problems. The optic discs were normal. After 45 minutes of darkness there was nearly no increase of light sensitivity. After 30 minutes of dark adaptation the scotopic ERG showed reduced amplitudes, but after 60 minutes they nearly reached a normal level. The 30 Hz flicker response of the cone ERG showed borderline implicit times, but no reduction of amplitudes. The fundus was typical for Fundus Albipuntatus. The patient is a compound heterozygote carrying a Ile33Asn and a Arg157Trp mutation. The presence of both mutations segregates with the disease.
Conclusions: The paracentral visual field defects may be due to a cone dysfunction. Unfortunately, the patient could not be examined by multifocal ERG. However, there is no cone dystrophy as it has been described in the literature, at least until now. The correlation between the clinical phenotype and specific mutations of the gene encoding 11-cis dehydrogenase helps to counsel patients suffering from Fundus Albipunctatus.