AIMS: To characterise longitudinal progressive retinal changes in achromatopsia. METHODS: Ultrahigh-resolution spectral optical coherence tomography (Copernicus, 3 μm axial resolution) was used to obtain tomograms of the fovea from five children and three adults with achromatopsia. Each patient was scanned twice with a mean follow-up time of 16 months. Progressive changes in reflectivity at the inner segment/outer segment (IS/OS) junction, the central macular and outer nuclear layer thickness were analysed. RESULTS: Younger patients (<10 years; patient 1-5) showed progressive morphological changes at the IS/OS junction between visits 1 and 2. However, older patients (>40 years; patients 6-8) did not have any changes in the retinal morphology between visits 1 and 2. In patients 1 and 2, IS/OS discontinuities (visit 1) developed into a hyper-reflective zone confined to the fovea (visit 2). In patient 3, the hyper-reflective zone (visit 1) progressed to form an IS/OS disruption and early formation of a small hypo-reflective zone (visit 2). Patients 4 and 5 had a hypo-reflective zone (visit 1) which subsequently increased in size (visit 2). There was a decrease in central macular and outer nuclear layer thickness between visits 1 and 2 in children. CONCLUSIONS: For the first time, we show progressive longitudinal changes in retinal morphology in achromatopsia. Early changes include subtle IS/OS reflectivity alterations. The dynamic retinal changes in younger patients provide evidence that it represents a progressive disorder, and implementation of gene therapy during the early stages of the disease may provide best prognosis.
AIMS: To characterise longitudinal progressive retinal changes in achromatopsia. METHODS: Ultrahigh-resolution spectral optical coherence tomography (Copernicus, 3 μm axial resolution) was used to obtain tomograms of the fovea from five children and three adults with achromatopsia. Each patient was scanned twice with a mean follow-up time of 16 months. Progressive changes in reflectivity at the inner segment/outer segment (IS/OS) junction, the central macular and outer nuclear layer thickness were analysed. RESULTS: Younger patients (<10 years; patient 1-5) showed progressive morphological changes at the IS/OS junction between visits 1 and 2. However, older patients (>40 years; patients 6-8) did not have any changes in the retinal morphology between visits 1 and 2. In patients 1 and 2, IS/OS discontinuities (visit 1) developed into a hyper-reflective zone confined to the fovea (visit 2). In patient 3, the hyper-reflective zone (visit 1) progressed to form an IS/OS disruption and early formation of a small hypo-reflective zone (visit 2). Patients 4 and 5 had a hypo-reflective zone (visit 1) which subsequently increased in size (visit 2). There was a decrease in central macular and outer nuclear layer thickness between visits 1 and 2 in children. CONCLUSIONS: For the first time, we show progressive longitudinal changes in retinal morphology in achromatopsia. Early changes include subtle IS/OS reflectivity alterations. The dynamic retinal changes in younger patients provide evidence that it represents a progressive disorder, and implementation of gene therapy during the early stages of the disease may provide best prognosis.
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: 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: Drew Scoles; Yusufu N Sulai; Christopher S Langlo; Gerald A Fishman; Christine A Curcio; Joseph Carroll; Alfredo Dubra Journal: Invest Ophthalmol Vis Sci Date: 2014-06-06 Impact factor: 4.799
Authors: Jonathan Aboshiha; Adam M Dubis; Jill Cowing; Rachel T A Fahy; Venki Sundaram; James W Bainbridge; Robin R Ali; Alfredo Dubra; Marko Nardini; Andrew R Webster; Anthony T Moore; Gary Rubin; Joseph Carroll; Michel Michaelides Journal: Invest Ophthalmol Vis Sci Date: 2014-08-07 Impact factor: 4.799
Authors: Venki Sundaram; Caroline Wilde; Jonathan Aboshiha; Jill Cowing; Colin Han; Christopher S Langlo; Ravinder Chana; Alice E Davidson; Panagiotis I Sergouniotis; James W Bainbridge; Robin R Ali; Alfredo Dubra; Gary Rubin; Andrew R Webster; Anthony T Moore; Marko Nardini; Joseph Carroll; Michel Michaelides Journal: Ophthalmology Date: 2013-10-20 Impact factor: 12.079