Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1

Elias Nicholas Katsanis*, N. F. Shroyer, R. A. Lewis, J. C. Cavender, A. A. Al-Rajhi, M. Jabak, J. R. Lupski

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

46 Scopus citations

Abstract

Fundus albipunctatus (FA; OMIM 136880) is a rare form of apparently stationary night blindness characterized by the presence of myriad symmetrical round white dots in the fundus with a greater concentration in the midperiphery. A distantly similar but distinct clinical entity, retinitis punctata albescens (RPA), is also characterized by aggregation of irregular white flecks but is progressive and evolves to generalized atrophy of the retina. We studied 4 consanguineous kindreds diagnosed with FA from Saudi Arabia. Given the substantial phenotypic variation and overlap between different flecked retinal dystrophies, we evaluated all known genes associated with such conditions by both genetic analysis and direct sequencing. In one kindred, KKESH-099, we identified a homozygous R150Q alteration in RLBP1, the gene encoding the cellular retinaldehyde binding protein, associated previously with both recessive retinitis pigmentosa (arRP) and RPA. Examination of several patients aged 3-20 years over a 9-year period presented no evidence for either RP or RPA. In contrast, clinical examination of individuals with the same mutation in their fourth and fifth decade revealed signs consistent with RPA. The data suggest that the R150Q mutation in RLBP1 may result in RPA with slow progression. More importantly, younger individuals diagnosed with the milder disorder FA thought to be stationary may evolve to a more devastating and progressive phenotype.

Original languageEnglish (US)
Pages (from-to)424-429
Number of pages6
JournalClinical Genetics
Volume59
Issue number6
DOIs
StatePublished - 2001

Keywords

  • Fleck dystrophy
  • Genetic heterogeneity
  • Linkage
  • Mutation
  • Retinal dystrophy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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