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Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy

Daich Varela, Malena; Dixit, Mira; Kalitzeos, Angelos; Michaelides, Michel; (2024) Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy. Investigative Ophthalmology & Visual Science , 65 (3) , Article 9. 10.1167/iovs.65.3.9. Green open access

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Abstract

PURPOSE: RDH12 is among the most common genes found in individuals with early-onset severe retinal (EOSRD). Adaptive optics scanning light ophthalmoscopy (AOSLO) enables resolution of individual rod and cone photoreceptors in the retina. This study presents the first AOSLO imaging of individuals with RDH12-associated EOSRD. METHODS: Case series of patients who attended Moorfields Eye Hospital (London, UK). Spectral-domain optical coherence tomography, near-infrared reflectance (NIR), and blue autofluorescence imaging were analyzed. En face image sequences of photoreceptors were recorded using either of two AOSLO modalities. Cross-sectional analysis was undertaken for seven patients and longitudinal analysis for one patient. RESULTS: Nine eyes from eight patients are presented in this case series. The mean age at the time of the assessment was 11.2 ± 6.5 years of age (range 7-29). A subfoveal continuous ellipsoid zone (EZ) line was present in eight eyes. Posterior pole AOSLO revealed patches of cone mosaics. Average cone densities at regions of interest 0.5° to the fovea ranged from 12,620 to 23,660 cells/mm2, whereas intercell spacing ranged from 7.0 to 9.7 µm. CONCLUSIONS: This study demonstrates that AOSLO can provide useful high-quality images in patients with EOSRD, even during childhood, with nystagmus, and early macular atrophy. Cones at the posterior pole can appear as scattered islands or, possibly later in life, as a single subfoveal conglomerate. Detailed image analysis suggests that retinal pigment epithelial stress and dysfunction may be the initial step toward degeneration, with NIR being a useful tool to assess retinal well-being in RDH12-associated EOSRD.

Type: Article
Title: Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1167/iovs.65.3.9
Publisher version: https://doi.org/10.1167/iovs.65.3.9
Language: English
Additional information: This work is licensed under a Creative Commons Attribution 4.0 International License.
Keywords: Humans, Child, Adolescent, Young Adult, Adult, Cross-Sectional Studies, Retina, Retinal Dystrophies, Tomography, Optical Coherence, Alcohol Oxidoreductases, Eye Diseases, Hereditary
UCL classification: UCL
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/10189341
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