PURPOSE: To characterize the retinal changes in patients with achromatopsia using an ultrahigh-resolution (UHR) spectral-domain optical coherence tomography (OCT) to examine how human achromatopsia corresponds to its animal model. DESIGN: Comparative case series. PARTICIPANTS AND CONTROLS: Ultrahigh-resolution OCT (Copernicus; OPTOPOL Technology S.A., Zawiercie, Poland; 3-μm axial resolution) was used to obtain scans from 13 patients (26 eyes) with achromatopsia and from 20 controls (40 eyes). METHODS: A 3-dimensional scan program (743×75; A×B scan) sampling a 7×7-mm retinal area centered at the fovea was used to obtain tomograms of the fovea. Individual B-scans at the fovea were exported and analyzed using ImageJ (Wayne Rasband, National Institute of Health) for reflectance profiles and morphologic abnormalities. MAIN OUTCOME MEASURES: Gross morphologic changes in OCT were characterized. Specifically, inner segment and outer segment (IS/OS) junction and cone outer segment tip (COST) disruption was noted. Using the reflectance profiles, foveal depth, thickness of the outer nuclear layer (ONL), and retinal thickness (RT) were measured. RESULTS: A characteristic so-called punched out hyporeflective zone (HRZ) was noted in 7 of 13 patients; this was age-dependent (P = 0.001). The area of the HRZ was asymmetric with the nasal area being significantly greater than the temporal area (P = 0.002). In all patients, there was disruption of the IS/OS junction at the foveal or parafoveal regions, or both. Five of 13 patients also had a disrupted COST reflectivity. There was significant (P = 1.1×10(-6)) ONL thinning in the achromats compared with controls, which was age-dependent (P = 0.0002). Foveal maldevelopment was seen in 9 of 13 patients. The achromats also had a significantly reduced foveal depth (P = 7.7×10(-6)) and RT (P = 1.46×10(-9)) compared with controls. CONCLUSIONS: A range of signs in achromatopsia are described that can be detected using UHR OCT. The IS/OS junction and COST reflectivity disruption and presence of HRZ and ONL thinning are signs of cone photoreceptor degeneration. The latter 2 are age-dependent, which suggests that achromatopsia is a progressive disorder. In addition, foveal maldevelopment is described; this represents a fetal developmental defect linked to cone photoreceptor degeneration.
PURPOSE: To characterize the retinal changes in patients with achromatopsia using an ultrahigh-resolution (UHR) spectral-domain optical coherence tomography (OCT) to examine how humanachromatopsia corresponds to its animal model. DESIGN: Comparative case series. PARTICIPANTS AND CONTROLS: Ultrahigh-resolution OCT (Copernicus; OPTOPOL Technology S.A., Zawiercie, Poland; 3-μm axial resolution) was used to obtain scans from 13 patients (26 eyes) with achromatopsia and from 20 controls (40 eyes). METHODS: A 3-dimensional scan program (743×75; A×B scan) sampling a 7×7-mm retinal area centered at the fovea was used to obtain tomograms of the fovea. Individual B-scans at the fovea were exported and analyzed using ImageJ (Wayne Rasband, National Institute of Health) for reflectance profiles and morphologic abnormalities. MAIN OUTCOME MEASURES: Gross morphologic changes in OCT were characterized. Specifically, inner segment and outer segment (IS/OS) junction and cone outer segment tip (COST) disruption was noted. Using the reflectance profiles, foveal depth, thickness of the outer nuclear layer (ONL), and retinal thickness (RT) were measured. RESULTS: A characteristic so-called punched out hyporeflective zone (HRZ) was noted in 7 of 13 patients; this was age-dependent (P = 0.001). The area of the HRZ was asymmetric with the nasal area being significantly greater than the temporal area (P = 0.002). In all patients, there was disruption of the IS/OS junction at the foveal or parafoveal regions, or both. Five of 13 patients also had a disrupted COST reflectivity. There was significant (P = 1.1×10(-6)) ONL thinning in the achromats compared with controls, which was age-dependent (P = 0.0002). Foveal maldevelopment was seen in 9 of 13 patients. The achromats also had a significantly reduced foveal depth (P = 7.7×10(-6)) and RT (P = 1.46×10(-9)) compared with controls. CONCLUSIONS: A range of signs in achromatopsia are described that can be detected using UHR OCT. The IS/OS junction and COST reflectivity disruption and presence of HRZ and ONL thinning are signs of cone photoreceptor degeneration. The latter 2 are age-dependent, which suggests that achromatopsiais a progressive disorder. In addition, foveal maldevelopment is described; this represents a fetal developmental defect linked to cone photoreceptor degeneration.
Authors: Jonathan P Greenberg; Jerome Sherman; Sandrine A Zweifel; Royce W S Chen; Tobias Duncker; Susanne Kohl; Britta Baumann; Bernd Wissinger; Lawrence A Yannuzzi; Stephen H Tsang Journal: JAMA Ophthalmol Date: 2014-04-01 Impact factor: 7.389
Authors: Adam M Dubis; Robert F Cooper; Jonathan Aboshiha; Christopher S Langlo; Venki Sundaram; Benjamin Liu; Frederick Collison; Gerald A Fishman; Anthony T Moore; Andrew R Webster; Alfredo Dubra; Joseph Carroll; Michel Michaelides Journal: Invest Ophthalmol Vis Sci Date: 2014-10-02 Impact factor: 4.799
Authors: Paul Yang; Keith V Michaels; Robert J Courtney; Yuquan Wen; Daniel A Greninger; Leah Reznick; Daniel J Karr; Lorri B Wilson; Richard G Weleber; Mark E Pennesi Journal: JAMA Ophthalmol Date: 2014-07 Impact factor: 7.389
Authors: Alicia Muñoz-Gallego; José L Torres-Peña; Martín Rodríguez-Salgado; Ana Ortueta-Olartecoechea; Cristina López-López; Javier De la Cruz; Pilar Tejada-Palacios Journal: Graefes Arch Clin Exp Ophthalmol Date: 2020-08-29 Impact factor: 3.117