Ocular findings in pediatric turner syndrome.

OBJECTIVE: Turner syndrome (TS) is associated with abnormalities across several organ systems, including the visual system. There is a relative paucity of literature describing ophthalmic manifestations of TS. We sought to investigate eye manifestations in our cross-sectional population of pediatric TS patients. METHODS: All patients managed by the TS program of a tertiary children's hospital were identified. Patients with documentation of at least one eye exam were included for analysis. Chart review was retrospectively performed to identify all documented ocular abnormalities as well as patient demographics, including TS karyotype. Statistical analysis was performed to identify any association between karyotype and ocular abnormality. RESULTS: A total of 187 patients with TS were identified. The mean age of the cohort was 14.3 ± 7.2 years. Ametropia was the most common ocular abnormality, occurring in 79 patients (42%), followed by strabismus in 25 (13%). Of the patients with strabismus, 17 had exotropia and 8 had esotropia, with only 2 patients requiring surgical intervention. Posterior segment abnormalities were identified in five patients without accompanying visual deficits. Two patients had ocular tumors: one with retinoblastoma and one with retinal astrocytic hamartoma. There was no association between TS karyotype and occurrence of ocular abnormalities. CONCLUSION: Ophthalmic manifestations of TS were common, particularly ametropia and strabismus. Management of strabismus was conservative in the vast majority of patients. Ocular manifestations were not associated with TS karyotype. Early screening and routine ophthalmic evaluation of patients with TS is needed to prevent progression of potentially vision-threatening abnormalities.

Long-term surgical outcomes of ab externo trabeculotomy in the management of primary congenital glaucoma.

PURPOSE: To analyze the long-term results of ab externo trabeculotomy with a Harms trabeculotome at a single, tertiary care pediatric hospital. METHODS: The medical records of pediatric patients operated on between September 2006 and June 2018 were reviewed retrospectively. Kaplan-Meier analysis was performed, with success defined as postoperative intraocular pressure (IOP) of ≤21 mm Hg, >20% reduction from preoperative IOP, and no need for further glaucoma surgery. Risk factors for failure were identified using Cox proportional hazards ratio. RESULTS: A total of 63 eyes of 40 patients were included. The cumulative probability of success rate was 83% at 3 months, 76% at 6, 73% at 12, 72% at 18, and 65% at final visit. Presentation within 3 months of life was associated with a less favorable outcome. Thirty-five eyes (56%) underwent repeat trabeculotomy to treat a different area of the trabecular meshwork because of inadequately controlled IOP after the first session. Of those who needed another session of trabeculotomy, the final success rate was 60.2%. IOP significantly decreased from 29.79 ± 7.67 mm Hg at baseline to 16.13 ± 3.41 mm Hg by final follow-up (P = 0.001). Patients were followed for an average of 85.74 ± 32.95 months. IOP and success rates remained stable 18 months after surgery. CONCLUSIONS: In our patient cohort, ab externo trabeculotomy was associated with good long-term results. More extensive trabeculotomy (ie, more than one procedure) was associated with better long-term success rates.