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
Objective: To investigate the relationship between tear volume and tear menisc us curvature by means of the video meniscometer. Methods: Eleven eyes of 11 pati ents with severe dry eye were studied (all female; mean &...Objective: To investigate the relationship between tear volume and tear menisc us curvature by means of the video meniscometer. Methods: Eleven eyes of 11 pati ents with severe dry eye were studied (all female; mean ±SD age, 66.2 ±7.7 yea rs; 7 left eyes and 4 right eyes), each of whose puncta had been therapeutically occluded. Four instillations of balanced salt solution were given at intervals of 1 minute in each studied eye, with the concentration increasing in 5-μL ste ps from 5 to 20 μL. Before and after the instillation of balanced salt solution , tear meniscus changes were recorded by video meniscometer and radius of the me niscus was calculated from the printed images by means of the concave mirror for mula. Results: The mean radius of the meniscus increased linearly with increased drop volume (r 2=0.65, P < 0.001), with mean±SD radius values of 0.24±0.08 mm at baseline and 0.48±0.13, 0.62±0.13, 0.84±0 .26, and 1.00±0.32 mm after separate instillations of 5, 10, 15, and 20 μL of balanced salt solution, respectively. For each subject, a significantly differen t slope defining the relationship between instilled volume and meniscus radius w as seen (0.016-0.063 mm/μl; mean±SD, 0.039±0.015 mm/μl), which was thought to depend on the difference in capacity of the fluid reservoir over the ocular s urface. Conclusions: This study confirmed that the volume of instilled eyedrops is linearly related to the resulting radius of the tear meniscus, suggesting tha t this radius is a useful measure in monitoring the tear volume. This is likely to have implications both for dry eye diagnosis and for confirming the efficacy of punctal occlusion in this condition.展开更多
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.
文摘Objective: To investigate the relationship between tear volume and tear menisc us curvature by means of the video meniscometer. Methods: Eleven eyes of 11 pati ents with severe dry eye were studied (all female; mean ±SD age, 66.2 ±7.7 yea rs; 7 left eyes and 4 right eyes), each of whose puncta had been therapeutically occluded. Four instillations of balanced salt solution were given at intervals of 1 minute in each studied eye, with the concentration increasing in 5-μL ste ps from 5 to 20 μL. Before and after the instillation of balanced salt solution , tear meniscus changes were recorded by video meniscometer and radius of the me niscus was calculated from the printed images by means of the concave mirror for mula. Results: The mean radius of the meniscus increased linearly with increased drop volume (r 2=0.65, P < 0.001), with mean±SD radius values of 0.24±0.08 mm at baseline and 0.48±0.13, 0.62±0.13, 0.84±0 .26, and 1.00±0.32 mm after separate instillations of 5, 10, 15, and 20 μL of balanced salt solution, respectively. For each subject, a significantly differen t slope defining the relationship between instilled volume and meniscus radius w as seen (0.016-0.063 mm/μl; mean±SD, 0.039±0.015 mm/μl), which was thought to depend on the difference in capacity of the fluid reservoir over the ocular s urface. Conclusions: This study confirmed that the volume of instilled eyedrops is linearly related to the resulting radius of the tear meniscus, suggesting tha t this radius is a useful measure in monitoring the tear volume. This is likely to have implications both for dry eye diagnosis and for confirming the efficacy of punctal occlusion in this condition.
