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V. K. Gullapalli, D. A. DiLoreto, Z. Williams, D. A. Pearce, N. A. Rao; Histopathological Insights Into the Retinal Degenerative Process of Batten Disease. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1384.
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To characterize the spectrum of retinal degenerative changes seen in Batten disease.
Eyes from three patients with juvenile-onset Batten disease, confirmed genetically as having mutations in the CLN1 gene (1 patient) or CLN3 gene (2 patients), were evaluated. Paraffin sections were stained with hematoxylin-eosin, Periodic Acid-Schiff (PAS), or Sudan Black. Changes in glial cells were evaluated using immunohistochemical staining of glial fibrillary acidic protein and vimentin.
Patients displayed varying levels of retinal degeneration. The least amount of degeneration was seen in a patient with the CLN3 mutation who died at 19 years of age. This retina showed normal architecture with healthy-appearing outer segments. The only pathology noted was occasional ceroidal accumulations within ganglion cells that were PAS- and Sudan Black-positive. A moderate amount of degeneration was seen in a second patient with the CLN3 mutation who also died at 19 years of age. This retina showed a disorganized outer nuclear layer with fewer nuclei and replacement of outer segments by Müller cell processes. The outer plexiform layer was markedly thinned. The inner nuclear layer (INL) also demonstrated thinning. Retinal pigment epithelium (RPE) was devoid of pigment centrally but appeared healthy peripherally. Migration of pigment-containing cells into the retina was noted especially perivascularly. Enlarged cells containing PAS-positive inclusions were seen in the ganglion cell layer and INL. The third patient, who died at 21 years of age, had the CLN1 mutation.This patient had the most severe degeneration. Complete loss of photoreceptors were noted centrally with a few surviving cells in the periphery with distorted outer segments. A few surviving peripheral RPE had reduced melanin. Ganglion cells were sparse but enlarged with PAS-positive granules. The nerve fiber layer was thickened with gliosis.
The retinal degeneration in Batten disease is variable and depends on the gene mutation. While obvious ceroidal accumulations are seen within the inner layers of the retina, especially the ganglion cells, the degenerative process seems most severe within the outer layers of the retina. The degeneration appears to begin within the central retina and progress peripherally over time. These unique findings within the retina provide important insights into the neurodegenerative process of Batten Disease.
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