Ultrastructural Observations on the Retina in Type II Glycogenosis (Pompe’s disease)

Goebel, Hans H.; Kohlschütter, Alfried; Pilz, H.

doi:10.1159/000308694

Cited by 10 publications

(5 citation statements)

References 8 publications

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“…The ubiquitous distribution pattern of NCL lipopigments in canine retinal cells resembled that in the retinae of human NCL and also that of lysosomal glycogen in the retina of human type II glycogenosis [Goebel et a!., 1978a]. In other human lysosomal disorders, as metachromatic leuko dystrophy [Cogan et al, 1970: Goebel et at., 1978b or GM,-gangliosidosis [Goebel et al, 1973], chiefly ganglionic cells show accretion of disease-specific bodies.…”

Section: Discussionmentioning

confidence: 80%

Ultrastructure of the Retina in Canine Neuronal Ceroid Lipofuscinosis

Goebel¹,

Koppang²,

Zeman³

1979

Ophthalmic Res

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Electron microscopic studies on the retinae of 3 English setters, homozygous for the trait of canine neuronal ceroid lipofuscinosis (NCL), revealed preservation of photoreceptors early and late in the course of the disease. This is in sharp contrast to the severe neuroepithelial degeneration in human NCL, for which canine NCL is considered a spontaneous animal model. Ubiquitous accretion of NCL-specific lipopigments was present in all cell types of the retina, suggesting that NCL-specific lipopigment accumulation in photoreceptors per se is not lethal to these cells. The ultrastructure of lipopigments comprised curvilinear, fingerprint, lamellar, and complex patterns. Retinae of heterozygotes exhibited occasional regular lipofuscin granules.

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Section: Discussionmentioning

confidence: 80%

Ultrastructure of the Retina in Canine Neuronal Ceroid Lipofuscinosis

Goebel¹,

Koppang²,

Zeman³

1979

Ophthalmic Res

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“…Prior to the availability of ERT, two cases of strabismus in a 9-month-old 8 and 3-year-old 10 boy with Pompe disease had been described. Since the advent of ERT, the presence of not only strabismus, 9 but also ptosis 9,12 and myopia 9 have been reported in infantile Pompe patients who received ERT (Table 4).…”

Section: Discussionmentioning

confidence: 99%

Ocular and Histologic Findings in a Series of Children With Infantile Pompe Disease Treated With Enzyme Replacement Therapy

Prakalapakorn¹,

Proia²,

Yanovitch³

et al. 2014

J Pediatr Ophthalmol Strabismus

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Purpose To report the ophthalmologic and histologic findings in a series of children with infantile Pompe disease treated with enzyme replacement therapy (ERT). Methods We reviewed the records of children with infantile Pompe disease treated with ERT who had at least one complete ophthalmic examination and the ocular histopathology of children with infantile Pompe disease who were treated with ERT. We reviewed the patient’s clinical history, including external ocular examination, ocular alignment and motility, dilated fundus examination, and cycloplegic refraction. A literature review was performed for ophthalmologic findings in infantile Pompe disease using PubMed. Results We included the clinical findings of 13 children and reviewed the ocular histopathology of three children with infantile Pompe disease who were treated with ERT. Forty-six percent (6/13) had bilateral ptosis, 23% (3/13) strabismus, 62% myopia (8/13), and 69% (9/13) astigmatism. On histologic examination, there was vacuolar myopathy affecting the extraocular muscles, ciliary body, and iris smooth muscle and glycogen accumulation in corneal endothelial, lens epithelium, and retinal ganglion cells, and within lysosomes of scleral fibroblasts. Conclusions It is important that ophthalmic providers are aware of the high prevalence of myopia, astigmatism, and ptosis in children with infantile Pompe disease treated with ERT, as they are potentially amblyogenic, but treatable factors.

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“…Nonetheless, the only tangible evidence for nervous system malfunction, as opposed to the prominent accumulation of glycogen, is the hearing deficit in human patients and the comparable functional defects in affected mice, traceable to increased glycogen in inner and outer sensory hair cells of the organ of Corti, supporting cells, stria vascularis, and spiral ganglion neurons in the inner ear (46). Comparable data are not available for vision, where neurons in the inner retinal layers accumulate glycogen but retinal photoreceptor cells appear spared (47, 48). An increase of glycogen in Schwann cells of PNS as well as in CNS neurons has been described (13, 17, 49, 50), but without electrophysiological abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Temporal Neuropathologic and Behavioral Phenotype of 6^neo/6^neoPompe Disease Mice

Sidman¹,

Taksir²,

Fidler³

et al. 2008

J Neuropathol Exp Neurol

104

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Pompe disease (glycogen storage disease II) is caused by mutations in the acid α-glucosidase gene. The most common form is rapidly progressive with glycogen storage, particularly in muscle, that leads to profound weakness, cardiac failure, and death by the age of two years. Although usually considered a muscle disease, glycogen storage also occurs in the CNS. We evaluated the progression of neuropathological and behavioral abnormalities in a Pompe disease mouse model (6neo/6neo) that displays many features of the human disease. Homozygous mutant mice store excess glycogen within large neurons of hindbrain, spinal cord, and sensory ganglia by the age of one month; accumulations then spread progressively within many CNS cell types. “Silver degeneration” and Fluoro-Jade C stains revealed severe degeneration in axon terminals of primary sensory neurons at three to nine months. These abnormalities were accompanied by progressive behavioral impairment on rotorod, wire hanging and foot fault tests. The extensive neuropathological alterations in this model suggest that therapy of skeletal and cardiac muscle disorders by systemic enzyme replacement therapy may not be sufficient to reverse functional deficits due to CNS glycogen storage, particularly early-onset, rapidly progressive disease. A better understanding of the basis for clinical manifestations is needed to correlate CNS pathology with Pompe disease manifestations.

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Ultrastructural Observations on the Retina in Type II Glycogenosis (Pompe’s disease)

Cited by 10 publications

References 8 publications

Ultrastructure of the Retina in Canine Neuronal Ceroid Lipofuscinosis

Ultrastructure of the Retina in Canine Neuronal Ceroid Lipofuscinosis

Ocular and Histologic Findings in a Series of Children With Infantile Pompe Disease Treated With Enzyme Replacement Therapy

Temporal Neuropathologic and Behavioral Phenotype of 6^neo/6^neoPompe Disease Mice

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Ultrastructural Observations on the Retina in Type II Glycogenosis (Pompe’s disease)

Cited by 10 publications

References 8 publications

Ultrastructure of the Retina in Canine Neuronal Ceroid Lipofuscinosis

Ultrastructure of the Retina in Canine Neuronal Ceroid Lipofuscinosis

Ocular and Histologic Findings in a Series of Children With Infantile Pompe Disease Treated With Enzyme Replacement Therapy

Temporal Neuropathologic and Behavioral Phenotype of 6neo/6neoPompe Disease Mice

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Temporal Neuropathologic and Behavioral Phenotype of 6^neo/6^neoPompe Disease Mice