Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets

T. S. Aleman, Byron L Lam, A. V. Cideciyan, A. Sumaroka, E. A M Windsor, A. J. Roman, S. B. Schwartz, E. M. Stone, S. G. Jacobson

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Purpose: To define molecular and ophthalmic features of a rare phenotype in autosomal dominant (ad) retinitis pigmentosa (RP) Methods: A 32-year-old woman (proband) with adRP and the low-frequency damped electroretinographic (ERG) wavelet phenotype and her mother were studied with optical coherence tomography (OCT), chromatic perimetry and ERG. A previously reported adRP patient with this ERG phenotype (Lam et al) was also studied with OCT. Genotype in the two families was determined with DNA sequencing. Results: ERGs from the proband were identical to those reported previously. Chromatic perimetry and ERG stimulus intensity series indicated that there can be severely reduced rod function in addition to substantial cone dysfunction. A heterozygous deletion in peripherin/RDS (Met152del3 atGAA) was present in the patient and the affected mother. There were foveal cystoid changes and pericentral splitting of the inner nuclear layer. ONL thickness and vision tapered with eccentricity, and 'blind' regions without discernible ONL showed a thickened, delaminated inner retina. Similar OCT findings were present in the reported adRP patient with this ERG; the patient was heterozygous for a 4-bp deletion (Leu107del4 ctGAGT) in PRPF31. Conclusions: The low-frequency damped ERG wavelet phenotype is genetically heterogeneous. Inner retinal structural abnormalities are also present in this rare disease expression.

Original languageEnglish
Pages (from-to)230-233
Number of pages4
JournalEye
Volume23
Issue number1
DOIs
StatePublished - Jan 1 2009

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Retinitis Pigmentosa
Genetic Heterogeneity
Optical Coherence Tomography
Phenotype
Visual Field Tests
Color
Peripherins
Mothers
Rare Diseases
DNA Sequence Analysis
Retina
Genotype

Keywords

  • Electroretinogram
  • Optical coherence tomography
  • Retinal circuitry
  • Retinitis pigmentosa

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Aleman, T. S., Lam, B. L., Cideciyan, A. V., Sumaroka, A., Windsor, E. A. M., Roman, A. J., ... Jacobson, S. G. (2009). Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets. Eye, 23(1), 230-233. https://doi.org/10.1038/eye.2008.264

Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets. / Aleman, T. S.; Lam, Byron L; Cideciyan, A. V.; Sumaroka, A.; Windsor, E. A M; Roman, A. J.; Schwartz, S. B.; Stone, E. M.; Jacobson, S. G.

In: Eye, Vol. 23, No. 1, 01.01.2009, p. 230-233.

Research output: Contribution to journalArticle

Aleman, TS, Lam, BL, Cideciyan, AV, Sumaroka, A, Windsor, EAM, Roman, AJ, Schwartz, SB, Stone, EM & Jacobson, SG 2009, 'Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets', Eye, vol. 23, no. 1, pp. 230-233. https://doi.org/10.1038/eye.2008.264
Aleman, T. S. ; Lam, Byron L ; Cideciyan, A. V. ; Sumaroka, A. ; Windsor, E. A M ; Roman, A. J. ; Schwartz, S. B. ; Stone, E. M. ; Jacobson, S. G. / Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets. In: Eye. 2009 ; Vol. 23, No. 1. pp. 230-233.
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