Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290

J Jason McAnany; Mohamed A Genead; Saloni Walia; Arlene V Drack; Edwin M Stone; Robert K Koenekoop; Elias I Traboulsi; Alison Smith; Richard G Weleber; Samuel G Jacobson; Gerald A Fishman

doi:10.1001/2013.jamaophthalmol.354

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Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290

Journal article

Open access

Peer reviewed

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290

J Jason McAnany, Mohamed A Genead, Saloni Walia, Arlene V Drack, Edwin M Stone, Robert K Koenekoop, Elias I Traboulsi, Alison Smith, Richard G Weleber, Samuel G Jacobson, …

JAMA ophthalmology, Vol.131(2), pp.178-182

02/2013

DOI: 10.1001/2013.jamaophthalmol.354

PMCID: PMC3688627

PMID: 23411883

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Abstract

To evaluate changes in visual acuity (VA) over time in patients with Leber congenital amaurosis (LCA) and mutations in the CEP290 gene. Visual acuity was determined at the initial and most recent visits of 43 patients with LCA and CEP290 mutations. The main outcome measures included the best-corrected VA at the initial and most recent visits, as well as the correlation between age and VA. At the initial visit, 14 patients had measurable chart VA in the better-seeing eye, 25 patients had nonmeasurable chart VA, and 4 young patients did not have VA assessed. At the most recent visit, 15 patients had measurable chart VA and 28 had nonmeasurable chart VA. The average interval between the 2 visits was 10.4 years (range, 2-47 years). For patients with measurable chart VA, the median logMAR value at the initial visit (0.75; range, 0.10-2.30) and at the most recent visit (0.70; range, 0.10-2.00) did not differ significantly (P> .05). There was no significant relationship between VA and age. Patients with LCA and CEP290 mutations had a wide spectrum of VA that was not related to age or length of follow-up. Severe VA loss was observed in most, but not all, patients in the first decade. These data will help clinicians provide counseling on VA changes in patients with CEP290 mutations and could be of value for future treatment trials.

Polymerase Chain Reaction

Mutation

Antigens, Neoplasm - genetics

Follow-Up Studies

Leber Congenital Amaurosis - physiopathology

Humans

Middle Aged

Child, Preschool

Infant

Male

Leber Congenital Amaurosis - genetics

Young Adult

DNA Mutational Analysis

Adolescent

Adult

Female

Retrospective Studies

Neoplasm Proteins - genetics

Child

Visual Acuity - physiology

Details

Title: Subtitle: Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290
Creators: J Jason McAnany - Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, USA
Mohamed A Genead
Saloni Walia
Arlene V Drack
Edwin M Stone
Robert K Koenekoop
Elias I Traboulsi
Alison Smith
Richard G Weleber
Samuel G Jacobson
Gerald A Fishman
Resource Type: Journal article
Publication Details: JAMA ophthalmology, Vol.131(2), pp.178-182
DOI: 10.1001/2013.jamaophthalmol.354
PMID: 23411883
PMCID: PMC3688627
NLM abbreviation: JAMA Ophthalmol
ISSN: 2168-6165
eISSN: 2168-6173
Publisher: United States
Grant note: R00EY019510 / NEI NIH HHS R00 EY019510 / NEI NIH HHS
Language: English
Date published: 02/2013
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983979991302771

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