Faculty Collaboration Database

Photoreceptor structure and function in patients with congenital achromatopsia. Invest Ophthalmol Vis Sci 2011 Sep 21;52(10):7298-308

Date

07/23/2011

Pubmed ID

21778272

Pubmed Central ID

PMC3183969

DOI

10.1167/iovs.11-7762

Scopus ID

2-s2.0-84856401869 (requires institutional sign-in at Scopus site)   136 Citations

Abstract

PURPOSE: To assess photoreceptor structure and function in patients with congenital achromatopsia.

METHODS: 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.

RESULTS: 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).

CONCLUSIONS: 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.

Author List

Genead MA, Fishman GA, Rha J, Dubis AM, Bonci DM, Dubra A, Stone EM, Neitz M, Carroll J

Author

Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Adolescent
Adult
Color Perception Tests
Color Vision Defects
Cyclic Nucleotide-Gated Cation Channels
DNA Mutational Analysis
Electroretinography
Exons
Female
Humans
Male
Middle Aged
Mutation
Photic Stimulation
Photoreceptor Cells, Vertebrate
Polymerase Chain Reaction
Tomography, Optical Coherence
Visual Acuity
Visual Field Tests