Ocular Histopathology in Hunter's Syndrome

Morphological and Biochemical Studies of a Case of Mucopolysaccharidosis Ii (Hunter's Syndrome)

“…Corneal opacity characteristic of MPS I consists of the deposition of increased amount of stromal mucopolysaccharides and many ballooned fibroblast-like cells (80called gargoyle cells) of the cornea,Zs which were also found in MPS II. 18 As JENSEN (1971)21 stated that the ocular involvement may be found even if not clinically detected, KAWAMURA (1974)24 confumed the so-called gargoyle cells in the corneal biopsy of our present patient. From the above mentioned discussion it can be concluded that the morphological approach has its limitations in distinguishing various kinds of mucopolysaccharidoses, previously stated by ELSNER (1970).…”

Morphological and Biochemical Studies of a Case of Mucopolysaccharidosis Ii (Hunter's Syndrome)

“…Corneal opacity characteristic of MPS I consists of the deposition of increased amount of stromal mucopolysaccharides and many ballooned fibroblast-like cells (80called gargoyle cells) of the cornea,Zs which were also found in MPS II. 18 As JENSEN (1971)21 stated that the ocular involvement may be found even if not clinically detected, KAWAMURA (1974)24 confumed the so-called gargoyle cells in the corneal biopsy of our present patient. From the above mentioned discussion it can be concluded that the morphological approach has its limitations in distinguishing various kinds of mucopolysaccharidoses, previously stated by ELSNER (1970).…”

High-speed, Ultrahigh Resolution Optical Coherence Tomography of the Retina in Hunter Syndrome

“…Several histopathologic reports of Hunter syndrome have shown multiple membranous lamellar vacuoles in the cytoplasm of retinal ganglion cells. 1,4,5 With high-speed, ultrahigh resolution OCT, we were able to clearly localize several cystoid spaces to the inner nuclear, ganglion cell, and outer nuclear layers. The sizes of these spaces ranged from approximately 30 to 60 microns in depth and almost 100 microns in width.…”

“…The outer nuclear layer was attenuated, consistent with a previous histopathologic report of Hunter syndrome. 4 There was marked thinning of the photoreceptor layer bilaterally. The external limiting membrane was surprisingly prominent in the foveal region, possibly reflecting the deposition of glycosaminoglycans.…”

Posterior segment findings in Hunter Syndrome: Case report and review

“…Previous studies indicate that the observed perifoveal outer retinal thinning in mucopolysaccharidoses may result from loss of photoreceptors and diffuse loss of the retinal pigment epithelium. 8 , 20 This mechanism is thought to be related to proteoglycan accumulation in the retinal interphotoreceptor matrix (IPM), which is largely involved in the maintenance of photoreceptor viability. Lazarus et al examined the IPMs of MPS VII mice by various histochemistry modalities and found that CS proteoglycan accumulation in the IPM due to errors of GAG catabolism dismantles the IPMs photoreceptor-supportive structure and leads to subsequent photoreceptor degeneration.…”

Morphological and Biochemical Studies of a Case of Mucopolysaccharidosis Ii (Hunter's Syndrome)

“…Corneal opacity characteristic of MPS I consists of the deposition of increased amount of stromal mucopolysaccharides and many ballooned fibroblast-like cells (80called gargoyle cells) of the cornea,Zs which were also found in MPS II. 18 As JENSEN (1971)21 stated that the ocular involvement may be found even if not clinically detected, KAWAMURA (1974)24 confumed the so-called gargoyle cells in the corneal biopsy of our present patient. From the above mentioned discussion it can be concluded that the morphological approach has its limitations in distinguishing various kinds of mucopolysaccharidoses, previously stated by ELSNER (1970).…”

High-speed, Ultrahigh Resolution Optical Coherence Tomography of the Retina in Hunter Syndrome

“…Several histopathologic reports of Hunter syndrome have shown multiple membranous lamellar vacuoles in the cytoplasm of retinal ganglion cells. 1,4,5 With high-speed, ultrahigh resolution OCT, we were able to clearly localize several cystoid spaces to the inner nuclear, ganglion cell, and outer nuclear layers. The sizes of these spaces ranged from approximately 30 to 60 microns in depth and almost 100 microns in width.…”

“…The outer nuclear layer was attenuated, consistent with a previous histopathologic report of Hunter syndrome. 4 There was marked thinning of the photoreceptor layer bilaterally. The external limiting membrane was surprisingly prominent in the foveal region, possibly reflecting the deposition of glycosaminoglycans.…”

Posterior segment findings in Hunter Syndrome: Case report and review

“…Previous studies indicate that the observed perifoveal outer retinal thinning in mucopolysaccharidoses may result from loss of photoreceptors and diffuse loss of the retinal pigment epithelium. 8 , 20 This mechanism is thought to be related to proteoglycan accumulation in the retinal interphotoreceptor matrix (IPM), which is largely involved in the maintenance of photoreceptor viability. Lazarus et al examined the IPMs of MPS VII mice by various histochemistry modalities and found that CS proteoglycan accumulation in the IPM due to errors of GAG catabolism dismantles the IPMs photoreceptor-supportive structure and leads to subsequent photoreceptor degeneration.…”

Morphological and Biochemical Studies of a Case of Mucopolysaccharidosis Ii (Hunter's Syndrome)

“…Corneal opacity characteristic of MPS I consists of the deposition of increased amount of stromal mucopolysaccharides and many ballooned fibroblast-like cells (80called gargoyle cells) of the cornea,Zs which were also found in MPS II. 18 As JENSEN (1971)21 stated that the ocular involvement may be found even if not clinically detected, KAWAMURA (1974)24 confumed the so-called gargoyle cells in the corneal biopsy of our present patient. From the above mentioned discussion it can be concluded that the morphological approach has its limitations in distinguishing various kinds of mucopolysaccharidoses, previously stated by ELSNER (1970).…”

High-speed, Ultrahigh Resolution Optical Coherence Tomography of the Retina in Hunter Syndrome

“…Several histopathologic reports of Hunter syndrome have shown multiple membranous lamellar vacuoles in the cytoplasm of retinal ganglion cells. 1,4,5 With high-speed, ultrahigh resolution OCT, we were able to clearly localize several cystoid spaces to the inner nuclear, ganglion cell, and outer nuclear layers. The sizes of these spaces ranged from approximately 30 to 60 microns in depth and almost 100 microns in width.…”

“…The outer nuclear layer was attenuated, consistent with a previous histopathologic report of Hunter syndrome. 4 There was marked thinning of the photoreceptor layer bilaterally. The external limiting membrane was surprisingly prominent in the foveal region, possibly reflecting the deposition of glycosaminoglycans.…”

Posterior segment findings in Hunter Syndrome: Case report and review

“…Previous studies indicate that the observed perifoveal outer retinal thinning in mucopolysaccharidoses may result from loss of photoreceptors and diffuse loss of the retinal pigment epithelium. 8 , 20 This mechanism is thought to be related to proteoglycan accumulation in the retinal interphotoreceptor matrix (IPM), which is largely involved in the maintenance of photoreceptor viability. Lazarus et al examined the IPMs of MPS VII mice by various histochemistry modalities and found that CS proteoglycan accumulation in the IPM due to errors of GAG catabolism dismantles the IPMs photoreceptor-supportive structure and leads to subsequent photoreceptor degeneration.…”