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Photoreceptor Structure and Function in Patients with Congenital Achromatopsia

Genead, MA; Fishman, GA; Rha, J; Dubis, AM; Bonci, DMO; Dubra, A; Stone, EM; ... Carroll, J; + view all (2011) Photoreceptor Structure and Function in Patients with Congenital Achromatopsia. Investigative Opthalmology & Visual Science , 52 (10) pp. 7298-7308. 10.1167/iovs.11-7762. Green open access

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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.

Type: Article
Title: Photoreceptor Structure and Function in Patients with Congenital Achromatopsia
Open access status: An open access version is available from UCL Discovery
DOI: 10.1167/iovs.11-7762
Publisher version: https://doi.org/10.1167/iovs.11-7762
Language: English
Additional information: This version is the version of record. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10069869
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