Objective: Keratitis- ichthyosis- deafness (KID) syndrome is a rare congenital ectodermal dysplasia characterized by the association of hyperkeratotic skin lesions, moderate to profound sensorineural hearing loss and ...Objective: Keratitis- ichthyosis- deafness (KID) syndrome is a rare congenital ectodermal dysplasia characterized by the association of hyperkeratotic skin lesions, moderate to profound sensorineural hearing loss and vascularizing keratitis. Mutations in the GJB2 gene coding for connexin 26, a component of gap junctions in epithelial cells, have been observed in several KID patients. Variable ocular manifestations of the disease in 3 patients with molecular genetically confirmed KID syndrome are reported. Design: Retrospective case series. Methods: Clinical examination and molecular genetic analysis for mutations in the GJB2 gene were performed in 3 patients with KID syndrome ages5, 13, and41 years. Results: Visual acuity ranged from normal to severe visual loss. The ocular signs included loss of eyebrows and lashes, thickened and keratinized lids, trichiasis, recurrent corneal epithelial defects, superficial and deep corneal stromal vascularization with scarring, keratoconjunctivitis sicca, and, in one patient, presumed limbal insufficiency. Whereas ocular surface integrity could be maintained with artificial tears in one patient, and an epithelial defect healed under conservative treatment in the second patient, multiple surgical procedures including superficial keratectomies, limbal allograft transplantation with systemic immunosuppression, amniotic membrane transplantation,lateral tarsorrhaphies, and lamellar keratoplasty could not preserve useful vision in the third patient. Conclusions: KID syndrome may affect the ocular adnexae and surface with variable severity independent of the age of the patient. Lid abnormalities, corneal surface instability, limbal stem cell deficiency with resulting corneal complications, and dry eye are the main ocular manifestations.展开更多
Purpose: To investigate whether intraoperative application of mitomycin C may enhance the success of amniotic membrane transplantation in symblepharon lysis a nd fornix reconstruction in severe cicatricial ocular surf...Purpose: To investigate whether intraoperative application of mitomycin C may enhance the success of amniotic membrane transplantation in symblepharon lysis a nd fornix reconstruction in severe cicatricial ocular surface diseases. Design: Noncomparative interventional case series. Participants: Sixteen patients (8 fem ale, 8male; 18 eyes)with amean age of 41±23.4 years (range, 3-79) and sufferin g from severe chemical/thermal burns (7 eyes), multiple recurrent pterygia and p seudopterygia (5 eyes), Stevens-Johnson syndrome (4 eyes), and ocular cicatrici al pemphigoid (2 eyes) were consecutively enrolled. All except for 2 eyes had ha d prior surgical attempts of surgical reconstruction, including 6 eyes with a mu cous membrane graft (MMG), but still presented with symblepharon and persistent ocular surface inflammation. Intervention: After excision of subconjunctival fib rovascular tissues, 0.04%mitomycin C was applied for 5 minutes in the deep forn ix before amniotic membrane transplantation. Main Outcome Measures: Deeper forni x, noninflamed ocular surface, and full motility. Results: The mean epithelial h ealing time was 4.2±1.9 weeks. During the follow-up of 14.16±5.2 months, all eyes showed a marked reduction of conjunctival inflammation, a deep fornix, and a continuous tear meniscus. Of 12 eyes with motility restriction, 2 eyes with mu ltiple recurrent pterygia and 1 eye with severe thermal burn showed recurrence o f partial motility restriction 2 months after surgery. The vision of 9 eyes was successfully restored by an additional keratolimbal allograft with subsequent pe netrating keratoplasty (6 eyes). Conclusion: Intraoperative application of mitom ycin C is an effective means to reduce chronic and deep-seated conjunctival inf lammation, and helps amniotic membrane restore a deep fornix after symblepharon lysis, even in eyes that had a failed MMG. Restoration of deep fornix and tear m eniscus is an important prerequisite to achieve successful reconstruction by sub sequent limbal stem cell transplantation.展开更多
文摘Objective: Keratitis- ichthyosis- deafness (KID) syndrome is a rare congenital ectodermal dysplasia characterized by the association of hyperkeratotic skin lesions, moderate to profound sensorineural hearing loss and vascularizing keratitis. Mutations in the GJB2 gene coding for connexin 26, a component of gap junctions in epithelial cells, have been observed in several KID patients. Variable ocular manifestations of the disease in 3 patients with molecular genetically confirmed KID syndrome are reported. Design: Retrospective case series. Methods: Clinical examination and molecular genetic analysis for mutations in the GJB2 gene were performed in 3 patients with KID syndrome ages5, 13, and41 years. Results: Visual acuity ranged from normal to severe visual loss. The ocular signs included loss of eyebrows and lashes, thickened and keratinized lids, trichiasis, recurrent corneal epithelial defects, superficial and deep corneal stromal vascularization with scarring, keratoconjunctivitis sicca, and, in one patient, presumed limbal insufficiency. Whereas ocular surface integrity could be maintained with artificial tears in one patient, and an epithelial defect healed under conservative treatment in the second patient, multiple surgical procedures including superficial keratectomies, limbal allograft transplantation with systemic immunosuppression, amniotic membrane transplantation,lateral tarsorrhaphies, and lamellar keratoplasty could not preserve useful vision in the third patient. Conclusions: KID syndrome may affect the ocular adnexae and surface with variable severity independent of the age of the patient. Lid abnormalities, corneal surface instability, limbal stem cell deficiency with resulting corneal complications, and dry eye are the main ocular manifestations.
文摘Purpose: To investigate whether intraoperative application of mitomycin C may enhance the success of amniotic membrane transplantation in symblepharon lysis a nd fornix reconstruction in severe cicatricial ocular surface diseases. Design: Noncomparative interventional case series. Participants: Sixteen patients (8 fem ale, 8male; 18 eyes)with amean age of 41±23.4 years (range, 3-79) and sufferin g from severe chemical/thermal burns (7 eyes), multiple recurrent pterygia and p seudopterygia (5 eyes), Stevens-Johnson syndrome (4 eyes), and ocular cicatrici al pemphigoid (2 eyes) were consecutively enrolled. All except for 2 eyes had ha d prior surgical attempts of surgical reconstruction, including 6 eyes with a mu cous membrane graft (MMG), but still presented with symblepharon and persistent ocular surface inflammation. Intervention: After excision of subconjunctival fib rovascular tissues, 0.04%mitomycin C was applied for 5 minutes in the deep forn ix before amniotic membrane transplantation. Main Outcome Measures: Deeper forni x, noninflamed ocular surface, and full motility. Results: The mean epithelial h ealing time was 4.2±1.9 weeks. During the follow-up of 14.16±5.2 months, all eyes showed a marked reduction of conjunctival inflammation, a deep fornix, and a continuous tear meniscus. Of 12 eyes with motility restriction, 2 eyes with mu ltiple recurrent pterygia and 1 eye with severe thermal burn showed recurrence o f partial motility restriction 2 months after surgery. The vision of 9 eyes was successfully restored by an additional keratolimbal allograft with subsequent pe netrating keratoplasty (6 eyes). Conclusion: Intraoperative application of mitom ycin C is an effective means to reduce chronic and deep-seated conjunctival inf lammation, and helps amniotic membrane restore a deep fornix after symblepharon lysis, even in eyes that had a failed MMG. Restoration of deep fornix and tear m eniscus is an important prerequisite to achieve successful reconstruction by sub sequent limbal stem cell transplantation.
