The Ultrastructure of the Retina in Adult Metachromatic Leukodystrophy

Ultrastructural Study of the Retina in Late Infantile Metachromatic Leukodystrophy

“…In our patient's retina, MLD storage was confined to the ganglion cell layer (and the optic nerve as part of the retinal papilla) whereas neurons of the bipolar and photoreceptor layers were unaffected. In an earlier paper, Cogan et al [3] also docu mented inclusions within cells of the bipolar layer, a finding not present in our patient and in an adult patient [4] afflicted with MLD. However, the lesion described and illustrated in the amacrine cell by Cogan et al [3] con sisted of masses of mitochondria and, possi bly derived from degenerated mitochondria, dense bodies, the latter unlike lamellar lyso-F ig .5 .…”

“…retinal ultrastructural pathology con firmed intraneuronal lysosomal storage of la mellar inclusions within perikarya of ganglion cells as the sole lesion seen in the retina. This observation represents the basis for this brief ultrastructural report, as, to our knowledge, similar data from only 4 patients with infan tile MLD [2,3], 1 with juvenile MLD [2,5], 2 with adult MLD [1,4], 1 with multiple sulfatasc deficiency (MSD) and 1 with a variant of MLD [6] have been reported.…”

“…Neuronal storage in MLD has pre viously been shown in CNS neurons [7], and the retina also seems to be affected by such a neuronal storage process [3,4], but this is not always so [1,2]. This lysosomal storage in 106 Goebel/Busch-Hettwer/Bohl Retina in Metachromatic Leukodystrophy neuronal perikarya refers to involvement of the ganglion cells both in childhood and adult forms of MLD.…”

“…This pathological lesion was found to represent intraneuronal storage of lamellar lysosomes in retinal ganglion cells which are abundant in the macula region. Subsequently, while funduscopically similar lesions were not mentioned, intraneuronal ly sosomal storage within ganglion cell perikarya was described in adult MLD [4], Thus, al though MLD is the classic example of a lyso somal demyelinating disease, pathology of the retina, a pure gray matter tissue in man, em phasizes that MLD may also imply neuronal storage.…”

Involvement of Retinal Neurons and Pigment Epithelial Cells in a Murine Model of Sandhoff Disease

“…5 C), but these are more likely to be undigested photoreceptor outer segments phagocytized by RPE cells, rather than membranous cytoplasmic bodies characteristic for G M2 gangliosidosis. Membranous inclusions were identified in RPE cells as well as RGCs in type C Niemann-Pick disease [31] , whereas disease-specific lysosomal residual bodies were confined to RGCs, and RPE cells were not affected in metachromatic leukodystrophy [32,33] . These findings suggest variations in the involvement of RPE cells among lysosomal storage disorders.…”