The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis

Richard G Weleber; Michel Michaelides; Karmen M Trzupek; Niamh B Stover; Edwin M Stone

doi:10.1167/iovs.10-6106

Back

The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis

Journal article

Peer reviewed

The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis

Richard G Weleber, Michel Michaelides, Karmen M Trzupek, Niamh B Stover and Edwin M Stone

Investigative ophthalmology & visual science, Vol.52(1), pp.292-302

01/05/2011

DOI: 10.1167/iovs.10-6106

PMID: 20811047

View Online

Abstract

To describe in detail the characteristic clinical phenotype and electrophysiological features of Severe Early Childhood Onset Retinal Dystrophy (SECORD) caused by mutation of RPE65. Ophthalmological examination, color fundus photography, visual field testing, detailed electrophysiological assessment, and screening of RPE65 were undertaken in five subjects. Selected patients also had spectral domain optical coherence tomography. All five patients had life-long, extremely poor night vision. Variable degrees of nystagmus were present; three cases lacked nystagmus at the time of assessment. Bilateral disc drusen were evident in three subjects. While case 1 had an undetectable electroretinogram and features supporting a diagnosis of Leber congential amaurosis (LCA) as an infant, her level of acuity and function into the second decade of life was more consistent with SECORD. In two cases, both vision and electrophysiological responses were seen to improve into the second decade of life. The objective demonstration of improved retinal function over time, with electrophysiological testing, has not been previously reported. Cases 4 and 5 had evidence of fine white retinal dots. The authors propose that these represent abnormal accumulations of retinyl esters, as has been demonstrated in animal models, and has also been observed as lipid droplets within the retinal pigment epithelium (RPE). These white dots were seen to fade with time in the patients and were replaced by RPE changes. The identification of patients with mutations in RPE65 has attained greater significance now that gene replacement trials have begun. The features presented in this article assist in the recognition of this form of LCA/SECORD.

Electroretinography

Optic Disk Drusen - diagnosis

Tomography, Optical Coherence

Humans

Nystagmus, Pathologic - genetics

Child, Preschool

Male

Leber Congenital Amaurosis - genetics

Visual Acuity

Carrier Proteins - genetics

Retinal Dystrophies - diagnosis

Phenotype

Nystagmus, Pathologic - diagnosis

Visual Fields

Adolescent

Female

Optic Disk Drusen - genetics

Leber Congenital Amaurosis - diagnosis

Visual Field Tests

Eye Proteins - genetics

Mutation

Child

Retinal Dystrophies - genetics

cis-trans-Isomerases

Details

Title: Subtitle: The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis
Creators: Richard G Weleber - Oregon Retinal Degeneration Center, Oregon Health & Science University, Portland, OR, USA. weleberr@ohsu.edu
Michel Michaelides
Karmen M Trzupek
Niamh B Stover
Edwin M Stone
Resource Type: Journal article
Publication Details: Investigative ophthalmology & visual science, Vol.52(1), pp.292-302
DOI: 10.1167/iovs.10-6106
PMID: 20811047
NLM abbreviation: Invest Ophthalmol Vis Sci
ISSN: 0146-0404
eISSN: 1552-5783
Publisher: United States
Language: English
Date published: 01/05/2011
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980026302771

Metrics

23 Record Views

58 Times Cited - Web of Science

See more details