Clinicopathologic Study of the Cornea in X-linked Ichthyosis

Ocular Findings in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

“…[1][2][3] Myopia may be caused by defective control of eye growth owing to reduced visual input (form deprivation myopia). Gray stromal opacities, known to occur in patients with X-linked ichthyosis, 4,5 or an ectropion, a typical feature of lamellar ichthyosis, were not seen in our patient. In addition to already known ocular features of IFAP syndrome, we demonstrated anomalies of desmosomes and tonofilaments in the corneal epithelium, basement membrane defects, and focal multilamellar reduplications significantly increasing basement membrane thickness, unanchored anchoring fibrils, defects of Bowman layer, keratocyte cytoplasmic segregation, and secondary corneal amyloid deposition.…”

Ocular Findings in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

“…[1][2][3] Myopia may be caused by defective control of eye growth owing to reduced visual input (form deprivation myopia). Gray stromal opacities, known to occur in patients with X-linked ichthyosis, 4,5 or an ectropion, a typical feature of lamellar ichthyosis, were not seen in our patient. In addition to already known ocular features of IFAP syndrome, we demonstrated anomalies of desmosomes and tonofilaments in the corneal epithelium, basement membrane defects, and focal multilamellar reduplications significantly increasing basement membrane thickness, unanchored anchoring fibrils, defects of Bowman layer, keratocyte cytoplasmic segregation, and secondary corneal amyloid deposition.…”

In Vivo Confocal Microscopy in Patients With Central Cloudy Dystrophyof François

“…8,9 Arcus senilis and anterior or posterior crocodile shagreen are usually seen in the peripheral cornea and are considered to be age-related corneal degenerations. Ichthyosis is also known to cause bilateral cloudy cornea 10 ; however, in our patients this possibility was ruled out by a dermatologist.…”

In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report

“…Curran et al [15] first performed a histopathological analysis of the cornea from a case of PDCD and found that the keratocytes were enlarged with accumulation of vacuoles in the intracellular compartment containing lipofuscin-like lipoproteins. In an ultrastructural study of a corneal button from a patient with X-linked ichthyosis, Kempster et al [16] found electron-dense polymorphic and lamellated materials along the anterior aspect of Descemet membrane. By contrast, the corneal histopathological features of PDCD and X-linked ichthyosis were similar, and were consistent with the IVCM findings of enlarged keratocytes with intracellular hyperreflective particles in the present case.…”

“…STS is found throughout the body, including the epidermis, where it is thought to play a role in the steroid production and lipid regulation of the stratum corneum [20]. As STS deficiency leads to elevated plasma levels of cholesterol sulfate, the characteristic feature of posterior stromal opacities in PDCD has been postulated to represent focal accumulations of cholesterol sulfate [7, 16]. Therefore, we propose that STS deficiency may lead to lysosomal dysfunction and lipid metabolism disorder, thus leading to accumulation of undigested substances in the intracellular and extracellular compartments of keratocytes.…”

Ocular Findings in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

“…[1][2][3] Myopia may be caused by defective control of eye growth owing to reduced visual input (form deprivation myopia). Gray stromal opacities, known to occur in patients with X-linked ichthyosis, 4,5 or an ectropion, a typical feature of lamellar ichthyosis, were not seen in our patient. In addition to already known ocular features of IFAP syndrome, we demonstrated anomalies of desmosomes and tonofilaments in the corneal epithelium, basement membrane defects, and focal multilamellar reduplications significantly increasing basement membrane thickness, unanchored anchoring fibrils, defects of Bowman layer, keratocyte cytoplasmic segregation, and secondary corneal amyloid deposition.…”

In Vivo Confocal Microscopy in Patients With Central Cloudy Dystrophyof François

“…8,9 Arcus senilis and anterior or posterior crocodile shagreen are usually seen in the peripheral cornea and are considered to be age-related corneal degenerations. Ichthyosis is also known to cause bilateral cloudy cornea 10 ; however, in our patients this possibility was ruled out by a dermatologist.…”

In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report

“…Curran et al [15] first performed a histopathological analysis of the cornea from a case of PDCD and found that the keratocytes were enlarged with accumulation of vacuoles in the intracellular compartment containing lipofuscin-like lipoproteins. In an ultrastructural study of a corneal button from a patient with X-linked ichthyosis, Kempster et al [16] found electron-dense polymorphic and lamellated materials along the anterior aspect of Descemet membrane. By contrast, the corneal histopathological features of PDCD and X-linked ichthyosis were similar, and were consistent with the IVCM findings of enlarged keratocytes with intracellular hyperreflective particles in the present case.…”

“…STS is found throughout the body, including the epidermis, where it is thought to play a role in the steroid production and lipid regulation of the stratum corneum [20]. As STS deficiency leads to elevated plasma levels of cholesterol sulfate, the characteristic feature of posterior stromal opacities in PDCD has been postulated to represent focal accumulations of cholesterol sulfate [7, 16]. Therefore, we propose that STS deficiency may lead to lysosomal dysfunction and lipid metabolism disorder, thus leading to accumulation of undigested substances in the intracellular and extracellular compartments of keratocytes.…”

Ocular Findings in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

“…[1][2][3] Myopia may be caused by defective control of eye growth owing to reduced visual input (form deprivation myopia). Gray stromal opacities, known to occur in patients with X-linked ichthyosis, 4,5 or an ectropion, a typical feature of lamellar ichthyosis, were not seen in our patient. In addition to already known ocular features of IFAP syndrome, we demonstrated anomalies of desmosomes and tonofilaments in the corneal epithelium, basement membrane defects, and focal multilamellar reduplications significantly increasing basement membrane thickness, unanchored anchoring fibrils, defects of Bowman layer, keratocyte cytoplasmic segregation, and secondary corneal amyloid deposition.…”

In Vivo Confocal Microscopy in Patients With Central Cloudy Dystrophyof François

“…8,9 Arcus senilis and anterior or posterior crocodile shagreen are usually seen in the peripheral cornea and are considered to be age-related corneal degenerations. Ichthyosis is also known to cause bilateral cloudy cornea 10 ; however, in our patients this possibility was ruled out by a dermatologist.…”

In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report

“…Curran et al [15] first performed a histopathological analysis of the cornea from a case of PDCD and found that the keratocytes were enlarged with accumulation of vacuoles in the intracellular compartment containing lipofuscin-like lipoproteins. In an ultrastructural study of a corneal button from a patient with X-linked ichthyosis, Kempster et al [16] found electron-dense polymorphic and lamellated materials along the anterior aspect of Descemet membrane. By contrast, the corneal histopathological features of PDCD and X-linked ichthyosis were similar, and were consistent with the IVCM findings of enlarged keratocytes with intracellular hyperreflective particles in the present case.…”

“…STS is found throughout the body, including the epidermis, where it is thought to play a role in the steroid production and lipid regulation of the stratum corneum [20]. As STS deficiency leads to elevated plasma levels of cholesterol sulfate, the characteristic feature of posterior stromal opacities in PDCD has been postulated to represent focal accumulations of cholesterol sulfate [7, 16]. Therefore, we propose that STS deficiency may lead to lysosomal dysfunction and lipid metabolism disorder, thus leading to accumulation of undigested substances in the intracellular and extracellular compartments of keratocytes.…”