Surgical management of infantile cataracts in dystrophic epidermolysis bullosa

Type VII Collagen in the Human Accommodation System: Expression in Ciliary Body, Zonules, and Lens Capsule

“…Interestingly, accommodation system histopathology has not been reported in Col VII-deficient patients. 7,8 By Western blot, the intense zonular IHC labeling appears to be due to the presence of NC-1 globuli. Although isolation of the relative minute quantities of Col VII from any extracellular matrix can be complicated due to its firm embedding therein, mAb (14) was able to detect a full-length Col VII (290-kDa) signal in zonular/lens capsule lysates.…”

“…6 Intraocular manifestations are mentioned only in rare case reports, where no clinical or histological abnormalities are found, 7 or are limited to lens (also surface ectoderm) sclerosis. [7][8][9] Interestingly, however, retinal COL7A1 gene expression was recently established (FANTOM5 consortium 10 ). Moreover, its protein product was demonstrated at the vitreoretinal junction 11,12 and inner layers of the normal retina, 12,13 although no anchoring fibrils were visualized.…”

Intraoperative complication during phacoemulsification in patient with epidermolysis bullosa

“…Intraoperatively, the conjunctiva was thin and friable and the corneal epithelium began to peel away from the stroma as the anterior chamber was entered. However, Motley et al 8 report their management of a 7-month-old boy with dystrophic epidermolysis bullosa and dense cataracts who had cataract extraction, limited vitrectomy, and IOL implantation with no conjunctiva-or cornea-related complications.…”

“…[1][2][3][4] Ocular involvement of variable severity has been reported in all types of epidermolysis bullosa, with corneal erosions/blisters, corneal scarring, symblepharon, eyelid and conjunctival blistering, blepharitis, ectropion, and lacrimal duct obstruction representing the most common manifestations. [5][6][7][8] We present a patient who experienced an extensive corneal epithelial blister during phacoemulsification cataract surgery.…”