Photoreceptor structure and function in patients with congenital achromatopsia

Mohamed A Genead; Gerald A Fishman; Jungtae Rha; Adam M Dubis; Daniela Maria O Bonci; Alfredo Dubra; Edwin M Stone; Maureen Neitz; Joseph Carroll

doi:10.1167/iovs.11-7762

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Photoreceptor structure and function in patients with congenital achromatopsia

Journal article

Open access

Peer reviewed

Photoreceptor structure and function in patients with congenital achromatopsia

Mohamed A Genead, Gerald A Fishman, Jungtae Rha, Adam M Dubis, Daniela Maria O Bonci, Alfredo Dubra, Edwin M Stone, Maureen Neitz and Joseph Carroll

Investigative ophthalmology & visual science, Vol.52(10), pp.7298-7308

09/21/2011

DOI: 10.1167/iovs.11-7762

PMCID: PMC3183969

PMID: 21778272

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Abstract

To assess photoreceptor structure and function in patients with congenital achromatopsia. Twelve patients were enrolled. All patients underwent a complete ocular examination, spectral-domain optical coherence tomography (SD-OCT), full-field electroretinographic (ERG), and color vision testing. Macular microperimetry (MP; in four patients) and adaptive optics (AO) imaging (in nine patients) were also performed. Blood was drawn for screening of disease-causing genetic mutations. Mean (± SD) age was 30.8 (± 16.6) years. Mean best-corrected visual acuity was 0.85 (± 0.14) logarithm of the minimal angle of resolution (logMAR) units. Seven patients (58.3%) showed either an absent foveal reflex or nonspecific retinal pigment epithelium mottling to mild hypopigmentary changes on fundus examination. Two patients showed an atrophic-appearing macular lesion. On anomaloscopy, only 5 patients matched over the entire range from 0 to 73. SD-OCT examination showed a disruption or loss of the macular inner/outer segments (IS/OS) junction of the photoreceptors in 10 patients (83.3%). Seven of these patients showed an optically empty space at the level of the photoreceptors in the fovea. AO images of the photoreceptor mosaic were highly variable but significantly disrupted from normal. On ERG testing, 10 patients (83.3%) showed evidence of residual cone responses to a single-flash stimulus response. The macular MP testing showed that the overall mean retinal sensitivity was significantly lower than normal (12.0 vs. 16.9 dB, P < 0.0001). The current approach of using high-resolution techniques to assess photoreceptor structure and function in patients with achromatopsia should be useful in guiding selection of patients for future therapeutic trials as well as monitoring therapeutic response in these trials.

Polymerase Chain Reaction

Mutation

Electroretinography

Tomography, Optical Coherence

Humans

Middle Aged

Cyclic Nucleotide-Gated Cation Channels - genetics

Exons - genetics

Male

Color Vision Defects - genetics

Color Vision Defects - physiopathology

Color Vision Defects - congenital

DNA Mutational Analysis

Adolescent

Adult

Female

Visual Field Tests

Color Perception Tests

Photic Stimulation

Photoreceptor Cells, Vertebrate - pathology

Visual Acuity - physiology

Details

Title: Subtitle: Photoreceptor structure and function in patients with congenital achromatopsia
Creators: Mohamed A Genead - Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA
Gerald A Fishman
Jungtae Rha
Adam M Dubis
Daniela Maria O Bonci
Alfredo Dubra
Edwin M Stone
Maureen Neitz
Joseph Carroll - Medical College of Wisconsin
Resource Type: Journal article
Publication Details: Investigative ophthalmology & visual science, Vol.52(10), pp.7298-7308
DOI: 10.1167/iovs.11-7762
PMID: 21778272
PMCID: PMC3183969
NLM abbreviation: Invest Ophthalmol Vis Sci
ISSN: 0146-0404
eISSN: 1552-5783
Publisher: United States
Grant note: R01EY017607 / NEI NIH HHS P30EY001931 / NEI NIH HHS P30 EY001792 / NEI NIH HHS P30EY001730 / NEI NIH HHS T32EY014537 / NEI NIH HHS C06 RR016511 / NCRR NIH HHS P30EY001792 / NEI NIH HHS C06 RR-RR016511 / NCRR NIH HHS T32 EY014537 / NEI NIH HHS P30 EY001931 / NEI NIH HHS R01 EY017607-05 / NEI NIH HHS R01 EY017607 / NEI NIH HHS P30 EY001730 / NEI NIH HHS
Language: English
Date published: 09/21/2011
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983979937702771

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