Case Series
Eye (2009) 23, 230–233 doi:10.1038/eye.2008.264; published online 15 August 2008
Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets
Financial interest: None
T S Aleman1, B L Lam2, A V Cideciyan1, A Sumaroka1, E A M Windsor1, A J Roman1, S B Schwartz1, E M Stone3 and S G Jacobson1
- 1Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA
- 2Bascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL, USA
- 3Howard Hughes Medical Institute and Department of Ophthalmology, University of Iowa, Carver College of Medicine, Iowa City, IA, USA
Correspondence: TS Aleman, Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, 51 North, 39th Street, Philadelphia, PA 19104, USA. Tel: +1 215 662 9981; Fax: +1 215 662 9388; E-mail: aleman@ mail.med.upenn.edu
Received 18 May 2008; Revised 28 July 2008; Accepted 28 July 2008; Published online 15 August 2008.
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.
Keywords:
electroretinogram, optical coherence tomography, retinal circuitry, retinitis pigmentosa
