Blepharophimosis: a recommendation for early surgery in patients with severe ptosis.

PURPOSE: To determine the optimal age for surgical correction of blepharophimosis. Associated features and their effects on incidence of amblyopia were also investigated. METHODS: The study was a retrospective case series of 28 patients with blepharophimosis, ptosis and epicanthus inversus syndrome presenting to a tertiary referral eyelid, lacrimal and orbital clinic. RESULTS: Amblyopia was present in 39% of patients. Patients with coexistent strabismus had a 64% incidence of amblyopia compared to 24% for those without strabismus. Hypermetropia was present in 43% of patients and 7% were myopic. Significant astigmatism was found in 40% of patients, but these factors did not increase the risk of amblyopia. Patients with severe ptosis had lower rates of amblyopia than those with moderate ptosis but had their ptosis corrected at a median age of 2 years compared to 5 years for those with moderate ptosis. There was an 18% incidence of nasolacrimal drainage problems. A good to excellent cosmetic outcome was achieved in 86% of patients. A positive family history was noted in 75% of patients, usually with paternal inheritance. CONCLUSIONS: Patients with blepharophimosis have a high rate of amblyopia. Co-existent strabismus doubles the risk of amblyopia. Ptosis alone causes mild to moderate amblyopia only. Patients with severe ptosis should have their ptosis corrected before 3 years of age, and all other patients should undergo surgery before 5 years of age.

Management of myogenic ptosis.

OBJECTIVE: To review the genetics, clinical features, and management of patients affected by myogenic ptosis. DESIGN: Retrospective, noncomparative interventional case series. PARTICIPANTS: Twenty-eight patients with myogenic ptosis. METHODS: A review of all patients with myogenic ptosis between 1992 and 2000 was made in a tertiary oculoplastics practice. MAIN OUTCOME MEASURES: Ocular and systemic findings associated with myogenic ptosis were examined. Patients were diagnosed clinically, and ancillary tests (including genetic tests and muscle biopsy histologic findings) were reviewed. Surgical management principles and complications are discussed. RESULTS: Most of our ptosis patients had chronic progressive external ophthalmoplegia (43%), oculopharyngeal muscular dystrophy (OPMD; 18%), and myotonic dystrophy (18%). Fifty percent of myogenic ptosis patients in our series underwent frontalis suspensions. Twenty-one percent of patients who initially had operations at our institution had minor complications, most related to corneal exposure. The most common ocular finding other than ptosis and ophthalmoplegia was pigmentary retinopathy (25%). The most common systemic finding in our patients was dysphagia (43%). Genetic testing for OPMD was highly sensitive. Muscle biopsy results for mitochondrial myopathies were less accurate as adjunctive diagnostic tests. CONCLUSIONS: Myogenic ptosis should be considered in the differential diagnosis of any atypical ptosis presentation. To avoid complications, surgery should be performed only when the visual axis is obscured. We recommend the use of silicone slings in any patient with severe ptosis and less than 8 mm of levator function. Genetic testing of patients with myogenic ptosis is important to allow accurate diagnosis and to permit appropriate counseling on potentially life-threatening health issues.

Management of periocular basal cell carcinoma with modified en face frozen section controlled excision.

PURPOSE: To determine the rate of recurrence of basal cell carcinomas (BCCs) after modified en face frozen section-controlled excision in a high-risk population in Queensland, Australia. METHODS: Retrospective, noncomparative interventional case series. A review was conducted of all patients with periocular BCCs examined between 1992 to 2001 in a tertiary oculoplastics practice. Basal cell carcinomas were surgically excised, and the recurrence rates under modified en face frozen section control, Mohs micrographic surgery, and no frozen section control were documented. Epidemiologic aspects of periocular BCC in Queensland, Australia were also studied. RESULTS: In patients with primary BCCs, 0.71% (3 of 423 lesions) recurred when excised under frozen section control (mean follow-up, 2.6 years). At 5-year follow-up, the recurrence rate was 2.1% (2 of 97 lesions). Excision without frozen section control yielded a recurrence rate of 1.8% (2 of 113 lesions; mean follow-up, 2.6 years). There were 6 additional lesions, however, that were incompletely excised. At 5 years, the recurrence rate was 5%. Six patients had lesions removed with Mohs micrographic surgery. There were no recurrences after a mean follow-up of 1.7 years. Of 653 total lesions, 361 involved the right eye (55%). Most BCCs were on the lower eyelid (53%) and inner canthus (29%). Solid BCCs were the most common type (54%), followed by the infiltrative type (15%). The majority of complications were minor and caused no ocular damage. CONCLUSIONS: Carefully performed, modified en face frozen section controlled excision of periocular BCCs yields cure rates comparable to Mohs micrographic surgery at 5-year follow-up. Close communication with a skilled pathologist is essential to achieve these low recurrence rates. The fact that lesions involved the right periocular region more than the left may reflect greater sun exposure on that side from driving.