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Biomedical subjects

Nicolas Uzcategui

Publications and source records attributed to Nicolas Uzcategui.

4 recordsLinked to original sources
PubMed2006

Efficacy and complications of the transconjunctival entropion repair for lower eyelid involutional entropion.

PURPOSE: To evaluate the efficacy of the transconjunctival entropion repair (TCER) for lower eyelid involutional entropion. DESIGN: Retrospective, noncomparative, interventional case series. PARTICIPANTS: One hundred fifty-one eyelids in 120 patients who underwent TCER for involutional entropion over a 12-year period from February 1991 through January 2003. METHODS: Surgical technique addressed all 3 anatomic factors underlying the entropion and was performed through a transconjunctival incision. Lateral tarsal strip procedure addressed horizontal eyelid laxity, lower eyelid retractor reinsertion addressed retractor disinsertion, and excision of a strip of the preseptal orbicularis oculi addressed preseptal orbicularis override. MAIN OUTCOME MEASURES: Entropion resolution, entropion recurrence, postoperative eyelid retraction, and complication rate. RESULTS: Transconjunctival entropion repair resulted in resolution of entropion, with a success rate of 96.7% (146 of 151 eyelids); entropion recurrence rate was 3.3% (5 of 151 eyelids). No patient had postoperative eyelid retraction or scleral show, and there were no overcorrections or secondary ectropions in any of the 151 eyelids. Postoperative complications occurred in 6 of 151 eyelids (4.0%) of 6 of 120 patients (5.0%) and included stitch abscess (1 eyelid, 0.7%), lateral tarsal strip dehiscence (2 eyelids, 1.3%), lateral canthal dystopia (2 eyelids, 1.3%), and conjunctivochalasis (1 eyelid, 0.7%). CONCLUSIONS: The transconjunctival lower eyelid entropion repair is effective and safe with low recurrence and complication rates. The TCER circumvents the risk of lower eyelid retraction and overcorrections that may occur with the transcutaneous approach.

Aged↗
PubMed2004

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

PURPOSE: Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A. This study was conducted to determine the incidence of KIF21A and PHOX2A mutations among individuals with the third CFEOM phenotype, CFEOM3. METHODS: All pedigrees and sporadic individuals with CFEOM3 in the authors' database were identified, whether the pedigrees were linked or consistent with linkage to the FEOM1, FEOM2, and/or FEOM3 loci was determined, and the appropriate pedigrees and the sporadic individuals were screened for mutations in KIF21A and PHOX2A. RESULTS: Twelve CFEOM3 pedigrees and 10 CFEOM3 sporadic individuals were identified in the database. The structures of eight of the pedigrees permitted the generation of meaningful linkage data. KIF21A was screened in 17 probands, and mutations were identified in two CFEOM3 pedigrees. One pedigree harbored a novel mutation (2841G-->A, M947I) and one harbored the most common and recurrent of the CFEOM1 mutations identified previously (2860C-->T, R954W). None of CFEOM3 pedigrees or sporadic individuals harbored mutations in PHOX2A. CONCLUSIONS: The results demonstrate that KIF21A mutations are a rare cause of CFEOM3 and that KIF21A mutations can be nonpenetrant. Although KIF21A is the first gene to be associated with CFEOM3, the results imply that mutations in the unidentified FEOM3 gene are the more common cause of this phenotype.

DNA Mutational Analysis↗