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The clinical phenot...
The clinical phenotype of CNGA3-related achromatopsia : Pretreatment characterization in preparation of a gene replacement therapy trial
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- Zobor, Ditta (author)
- University of Tübingen
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- Werner, Annette (author)
- University of Tübingen
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- Stanzial, Franco (author)
- Regional Hospital of Bolzano
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- Benedicenti, Francesco (author)
- Regional Hospital of Bolzano
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- Rudolph, Günther (author)
- Ludwig-Maximilian University of Munich
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- Kellner, Ulrich (author)
- AugenZentrum Siegburg
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- Hamel, Christian P (author)
- Hôpital Saint Eloi
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- Andréasson, Sten (author)
- Lund University,Lunds universitet,Klinisk forskning kring familjer med ärftliga näthinnesjukdomar,Forskargrupper vid Lunds universitet,Clinical research in families with inherited retinal degeneration,Lund University Research Groups
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- Zobor, Gergely (author)
- University of Tübingen
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- Strasser, Torsten (author)
- University of Tübingen
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- Wissinger, Bernd (author)
- University of Tübingen
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- Kohl, Susanne (author)
- University of Tübingen
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- Zrenner, Eberhart (author)
- University of Tübingen
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(creator_code:org_t)
- Association for Research in Vision and Ophthalmology (ARVO), 2017
- 2017
- English 12 s.
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In: Investigative Ophthalmology and Visual Science. - : Association for Research in Vision and Ophthalmology (ARVO). - 0146-0404. ; 58:2, s. 821-832
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https://doi.org/10.1...
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Abstract
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- PURPOSE. The purpose of this study was to clinically characterize patients with CNGA3-linked achromatopsia (CNGA3-ACHM) in preparation of a gene therapy trial. METHODS. Thirty-six patients (age 7-56 years) with complete (cACHM) or incomplete (iACHM) CNGA3-ACHM were examined, including detailed psychophysical tests, extended electrophysiology, and assessment of morphology by fundus autofluorescence and spectral-domain optical coherence tomography (SD-OCT). RESULTS. Mean best-corrected visual acuity was 0.78 ± 0.14 logMAR. Color vision tests were consistent with a rod-dominated function in every cACHM patient. Microperimetry indicated an overall lowered retinal sensitivity within 20° of visual field. In electroretinography (ERG), photopic responses were nondetectable in cACHM patients, but residual cone responses were observed in the iACHM patients. Scotopic responses were altered referring to anomalies of photoreceptor and postreceptor signaling, whereas in voltage versus intensity functions, V was significantly below normal values (P < 0.05). In contrast, slope (n) and semisaturation intensity (K) were found to be within normal limits. Spectral-domain OCT examination showed no specific changes in 14.7%, disruption of the ellipsoid zone (EZ) at the fovea in 38.2%, absent EZ in 17.7%, a hyporeflective zone in 20.5%, and outer retinal atrophy in 8.9% of all cases and foveal hypoplasia in 29 patients (85%). No correlation of retinal morphology with visual function or with a specific genotype was found. The severity of morphologic and functional changes lacked a robust association with age. CONCLUSIONS. Our extended investigations prove that even among such a genetically homogenous group of patients, no specific correlations regarding function and morphology severity and age can be observed. Therefore, the therapeutic window seems to be wider than previously indicated.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
Keyword
- Achromatopsia
- CNGA3
- Gene therapy
- Genotype-phenotype
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Zobor, Ditta
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Werner, Annette
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Stanzial, Franco
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Benedicenti, Fra ...
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Rudolph, Günther
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Kellner, Ulrich
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Hamel, Christian ...
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Andréasson, Sten
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Zobor, Gergely
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Strasser, Torste ...
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Wissinger, Bernd
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Kohl, Susanne
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Zrenner, Eberhar ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Ophthalmology
- Articles in the publication
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Investigative Op ...
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Investigative Op ...
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Lund University