Inner and Outer Retinal Changes in Retinal Degenerations Associated With ABCA4 Mutations

作者：Wei Huang, Artur V. Cideciyan, Alejandro J. Román, Alexander Sumaroka, Rebecca Sheplock, Sharon Schwartz, Edwin M. Stone, Samuel G. Jacobson · 发表于：Investigative Ophthalmology & Visual Science · 年份：2014 · DOI：10.1167/iovs.13-13768 · 被引用次数：58 · 研究领域：Retinal Development and Disorders、Retinal and Macular Surgery、Genetic and Kidney Cyst Diseases

PURPOSE: To investigate in vivo inner and outer retinal microstructure and effects of structural abnormalities on visual function in patients with retinal degeneration caused by ABCA4 mutations (ABCA4-RD). METHODS: Patients with ABCA4-RD (n = 45; age range, 9-71 years) were studied by spectral-domain optical coherence tomography (OCT) scans extending from the fovea to 30° eccentricity along horizontal and vertical meridians. Thicknesses of outer and inner retinal laminae were analyzed. Serial OCT measurements available over a mean period of 4 years (range, 2-8 years) allowed examination of the progression of outer and inner retinal changes. A subset of patients had dark-adapted chromatic static threshold perimetry. RESULTS: There was a spectrum of photoreceptor layer thickness changes from localized central retinal abnormalities to extensive thinning across central and near midperipheral retina. The inner retina also showed changes. There was thickening of the inner nuclear layer (INL) that was mainly associated with regions of photoreceptor loss. Serial data documented only limited change in some patients while others showed an increase in outer nuclear layer (ONL) thinning accompanied by increased INL thickening in some regions imaged. Visual function in regions both with and without INL thickening was describable with a previously defined model based on photoreceptor quantum catch. CONCLUSIONS: Inner retinal laminar abnormalities, as in other human photoreceptor diseases, ...