title: Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.
abstract: We report a case study of Fundus Albipunctatus (FA) due to compound heterozygous mutations in RDH5, the gene encoding for the 11-cis-retinal dehydrogenase (RDH). A 6-year old Hispanic American female with a clinical presentation suggestive of FA underwent dark-adapted full-field flash electroretinography (ERG) at 30 and 120 min. The pattern of ERG abnormalities was consistent with the working diagnosis FA. However, only ERG responses to dim stimuli were profoundly affected, and maximal ERG responses were already near normal after only 30 min of dark adaptation. The patient also demonstrated a subnormal maximal ERG response b/a-wave ratio at 30 min that resolved after 120 min of dark adaptation. When measurable, dark-adapted post-receptoral responses were normal in timing under all circumstances, and became increasingly faster after prolonged dark adaptation. Cone-driven responses were completely normal at this young age. Sequencing of the RDH5 gene revealed two distinct missense mutations, a G238W mutation, previously reported in patients with FA, and a D128N mutation, which has not been reported before but is known to cause reduced 11-cis-RDH activity. These findings confirmed the clinical and functional diagnosis of FA and excluded that of retinitis punctata albescens (RPA). The behavior of dark-adapted ERG responses in FA displays characteristics that differ from those of RPA patients, which may be useful to differentiate functionally these two conditions at their common albipunctate stages.
authors.affiliation: Retinal Degeneration and Ophthalmic Genetics Service, Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, 930 Madison Avenue, Suite 731, Memphis, TN 38163, USA. iannacca@utmem.edu
authors.forename: Alessandro
authors.initials: A
authors.lastname: Iannaccone
authors.forename: Salvatore A
authors.initials: SA
authors.lastname: Tedesco
authors.forename: Kevin T
authors.initials: KT
authors.lastname: Gallaher
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Yamamoto
authors.forename: Steve
authors.initials: S
authors.lastname: Charles
authors.forename: Thaddeus P
authors.initials: TP
authors.lastname: Dryja
mesh_terms: D000429:Alcohol Oxidoreductases / Q000235:genetics*; D002648:Child; D003623:Dark Adaptation; D003937:Diagnosis, Differential; D004596:Electroretinography / Q000379:methods; D005260:Female; D005654:Fundus Oculi; D006579:Heterozygote; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D009755:Night Blindness / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D010775:Photic Stimulation / Q000379:methods; D020419:Photoreceptor Cells, Vertebrate; D012173:Retinitis / Q000175:diagnosis; D013997:Time Factors
chemical_list: D000429:Alcohol Oxidoreductases; C105846:retinol dehydrogenase 5