PURPOSE: To report the efficacy of electrolysis as a treatment of corneal opac ities in a young patient with the superficial variant of granular corneal dystro phy. DESIGN: Interventional case report. METHODS: An 11-y...PURPOSE: To report the efficacy of electrolysis as a treatment of corneal opac ities in a young patient with the superficial variant of granular corneal dystro phy. DESIGN: Interventional case report. METHODS: An 11-year-old boy presented with subepithelial opacities in both eyes. His visual acuity was 0.2 in the lef t eye; he received corneal electrolysis under topical anesthesia. RESULTS: The e lectrolysis, which required only 5 minutes, resulted in the disappearance of the subepithelial opacities. His visual acuity improved to 0.4 on the next day and was 1.0 eight months later. The corneal curvature and thickness were not altered by the electrolysis. CONCLUSIONS: Corneal electrolysis proved to be an effectiv e treatment for subepithelial opacities, and we recommend electrolysis as an eff ective and simple treatment for young patients with SGCD.展开更多
To report a novel missense mutation in TACSTD2 gene, L186P, responsible for gelatinous droplike dystrophy (GDLD). Case report and experimental study. A 10- year-old Japanese boy suffering from typical GDLD was studied...To report a novel missense mutation in TACSTD2 gene, L186P, responsible for gelatinous droplike dystrophy (GDLD). Case report and experimental study. A 10- year-old Japanese boy suffering from typical GDLD was studied. A 1.1- kbDNA fragment of the TACSTD2 gene was amplified and analyzed using a molecular biological method. cDNA from the patient’ s cornea was also analyzed to determine which allele was expressed in the patient’ s corneal epithelium. Sequence analysis revealed that the patient is a compound heterozygote for the Q118X mutation and the L186P, the first missense mutation found in Japanese GDLD. Polymerase chain reaction-restriction fragment length polymorphism analysis from cDNA of patient’ s cornea revealed that the L186P missense mutation allele is expressed in the patient’ s corneal epithelium. We describe a novel mutation in one case of Japanese GDLD. The results confirm that the missense mutation L186P in the TACSTD2 gene is also responsible for the GDLD phenotype.展开更多
Aims: Gelatinous drop-like corneal dystrophy (GDLD) is an early-onset, autos omal recessive condition characterised by amyloid deposits within the cornea. We report the histopathological and molecular genetic findings...Aims: Gelatinous drop-like corneal dystrophy (GDLD) is an early-onset, autos omal recessive condition characterised by amyloid deposits within the cornea. We report the histopathological and molecular genetic findings in a Caucasian chil d with GDLD who also exhibited global developmental delay. Methods: Bilateral la mellar keratoplasty was carried out at age 6 and 7 years. Tissue was fixed for l ight and electron microscopy, including immunoelectronmicroscopy. The coding reg ion of the M1S1 gene was screened for mutations in the affected proband and avai lable relatives, using DNA extracted from mouthwashes. Results: Nodular deposits , which were present subepithelially and in the central superficial stroma, stai ned typically for amyloid with PAS and Congo red. A nodular deposit of amyloid, together with large amounts of lactoferrin and sparse amounts of keratoepithelin (βig-h3), was present in the central superficial stroma, causing destruction of Bowman’s layer and elevation of the thinned, degenerate epithelium. Around t he deposit zone, the stroma exhibited large numbers of thick filamentous proteog lycan deposits. While the affected child was homozygous for a novel A1133 C sing lenucleotide polymorphism (SNP) that resulted in an aspartic acid to alanine sub stitution at position 173 of the M1S1 coding sequence, this polymorphism was als o found at relatively high frequency in a sample of normal controls, enabling ex clusion of the M1S1 gene as the disease locus. Conclusion: Increased epithelial permeability in GDLD may be explained in part by an altered membrane permeabilit y of the superficial epithelial cells. An association with developmental delay h as not been reported previously.展开更多
文摘PURPOSE: To report the efficacy of electrolysis as a treatment of corneal opac ities in a young patient with the superficial variant of granular corneal dystro phy. DESIGN: Interventional case report. METHODS: An 11-year-old boy presented with subepithelial opacities in both eyes. His visual acuity was 0.2 in the lef t eye; he received corneal electrolysis under topical anesthesia. RESULTS: The e lectrolysis, which required only 5 minutes, resulted in the disappearance of the subepithelial opacities. His visual acuity improved to 0.4 on the next day and was 1.0 eight months later. The corneal curvature and thickness were not altered by the electrolysis. CONCLUSIONS: Corneal electrolysis proved to be an effectiv e treatment for subepithelial opacities, and we recommend electrolysis as an eff ective and simple treatment for young patients with SGCD.
文摘To report a novel missense mutation in TACSTD2 gene, L186P, responsible for gelatinous droplike dystrophy (GDLD). Case report and experimental study. A 10- year-old Japanese boy suffering from typical GDLD was studied. A 1.1- kbDNA fragment of the TACSTD2 gene was amplified and analyzed using a molecular biological method. cDNA from the patient’ s cornea was also analyzed to determine which allele was expressed in the patient’ s corneal epithelium. Sequence analysis revealed that the patient is a compound heterozygote for the Q118X mutation and the L186P, the first missense mutation found in Japanese GDLD. Polymerase chain reaction-restriction fragment length polymorphism analysis from cDNA of patient’ s cornea revealed that the L186P missense mutation allele is expressed in the patient’ s corneal epithelium. We describe a novel mutation in one case of Japanese GDLD. The results confirm that the missense mutation L186P in the TACSTD2 gene is also responsible for the GDLD phenotype.
文摘Aims: Gelatinous drop-like corneal dystrophy (GDLD) is an early-onset, autos omal recessive condition characterised by amyloid deposits within the cornea. We report the histopathological and molecular genetic findings in a Caucasian chil d with GDLD who also exhibited global developmental delay. Methods: Bilateral la mellar keratoplasty was carried out at age 6 and 7 years. Tissue was fixed for l ight and electron microscopy, including immunoelectronmicroscopy. The coding reg ion of the M1S1 gene was screened for mutations in the affected proband and avai lable relatives, using DNA extracted from mouthwashes. Results: Nodular deposits , which were present subepithelially and in the central superficial stroma, stai ned typically for amyloid with PAS and Congo red. A nodular deposit of amyloid, together with large amounts of lactoferrin and sparse amounts of keratoepithelin (βig-h3), was present in the central superficial stroma, causing destruction of Bowman’s layer and elevation of the thinned, degenerate epithelium. Around t he deposit zone, the stroma exhibited large numbers of thick filamentous proteog lycan deposits. While the affected child was homozygous for a novel A1133 C sing lenucleotide polymorphism (SNP) that resulted in an aspartic acid to alanine sub stitution at position 173 of the M1S1 coding sequence, this polymorphism was als o found at relatively high frequency in a sample of normal controls, enabling ex clusion of the M1S1 gene as the disease locus. Conclusion: Increased epithelial permeability in GDLD may be explained in part by an altered membrane permeabilit y of the superficial epithelial cells. An association with developmental delay h as not been reported previously.
