Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.

Published

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Iannaccone, A; Tedesco, SA; Gallaher, KT; Yamamoto, H; Charles, S; Dryja, TP

Published Date

  • September 2007

Published In

Volume / Issue

  • 115 / 2

Start / End Page

  • 111 - 116

PubMed ID

  • 17476461

Pubmed Central ID

  • 17476461

International Standard Serial Number (ISSN)

  • 0012-4486

Digital Object Identifier (DOI)

  • 10.1007/s10633-007-9054-0

Language

  • eng

Conference Location

  • Netherlands