title: Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
abstract: Fundus albipunctatus (FA) is a rare, congenital form of night blindness with rod system impairment, characterised by the presence of numerous small, white-yellow retinal lesions. FA belongs to a heterogenous group of so-called flecked retina syndromes. This disorder shows autosomal recessive inheritance and is caused mostly by mutations in the RDH5 gene. This gene encodes the enzyme that is a part of the visual cycle, the 11-cis retinol dehydrogenase. This study is a brief review of the literature on FA and a report of the first molecular evidence for RDH5 gene mutation in a Polish patient with this rare disorder. We present a novel pathogenic RDH5 gene mutation in a 16-year-old female patient with symptoms of night blindness. The patient underwent ophthalmological examinations, including colour vision testing, fundus photography, automated visual field testing, full-field electroretinography (ERG) and spectral optical coherent tomography (SOCT). The patient showed typical FA ERG records, the visual field was constricted and fundus examination revealed numerous characteristic, small, white-yellowish retinal lesions. DNA sequencing of the RDH5 gene coding sequence (exons 2-5) enabled the detection of the homozygous missense substitution c.524A > T (p.Tyr175Phe) in exon 3. This is the first report of RDH5 gene mutation that affects the invariant tyrosine, one of the most conserved amino acid residues in short-chain alcohol dehydrogenases/reductases (SDRs), crucial for these enzymes' activity. The location of this substitution, together with its predicted influence on the protein function, indicate that the p.Tyr175Phe mutation is the cause of FA in our patient.
authors.affiliation: Department of Medical Genetics, Poznan University of Medical Sciences, 8, Rokietnicka Street, 60-806, Poznań, Poland, aniaskorczyk@poczta.onet.pl.
authors.forename: Anna
authors.initials: A
authors.lastname: Skorczyk-Werner
authors.forename: Przemysław
authors.initials: P
authors.lastname: Pawłowski
authors.forename: Marta
authors.initials: M
authors.lastname: Michalczuk
authors.forename: Alicja
authors.initials: A
authors.lastname: Warowicka
authors.forename: Anna
authors.initials: A
authors.lastname: Wawrocka
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Wicher
authors.forename: Alina
authors.initials: A
authors.lastname: Bakunowicz-Łazarczyk
authors.forename: Maciej R
authors.initials: MR
authors.lastname: Krawczyński
mesh_terms: D000293:Adolescent; D000429:Alcohol Oxidoreductases / Q000235:genetics*; D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009755:Night Blindness / Q000235:genetics*; D010375:Pedigree; D011044:Poland; D012164:Retinal Diseases / Q000235:genetics*; D014443:Tyrosine / Q000235:genetics*
chemical_list: D014443:Tyrosine; D000429:Alcohol Oxidoreductases; C105846:retinol dehydrogenase 5
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