Iridocorneal Endothelial Syndrome in a 14-Year-Old Male.

The iridocorneal endothelial syndrome is a rare cause of unilateral glaucoma that is almost never seen in children. We report a case of iridocorneal endothelial in a 14-year-old boy who did not yet have ocular hypertension or glaucoma.

Medical and surgical outcomes in childhood glaucoma: a population-based study.

INTRODUCTION: To describe the clinical and surgical outcomes among patients younger than 20 years of age diagnosed with glaucoma in a defined population during a 40-year period. METHODS: The medical records of all patients (<20 years) diagnosed with glaucoma in Olmsted County, Minnesota, from January 1, 1965, through December 31, 2004, were retrospectively reviewed. RESULTS: Thirty children (45 eyes) were diagnosed with various forms of glaucoma during the 40-year study period. During a mean follow-up of 12.5 years (range, 7 days to 32 years), 18 (60%) of the 30 children underwent a mean of 2.7 surgeries (range, 1 to 10), including 6 (20%) patients whose sole surgery consisted of enucleation or evisceration for a blind, painful eye. Twenty-eight (93%) of the 30 children required medical management during the follow-up period, including 14 (47%) treated before their first surgery. At the final follow-up examination, 11 (37%) had a visual acuity of 20/200 or worse. The 10-year Kaplan-Meier risk of vision decreasing less than 20/200 in all glaucoma patients was 22.7% (95% CI, 0-40.9), and patients requiring any glaucoma surgery was 68.3% (95% CI, 42.4-82.6). CONCLUSIONS: In this population-based study of children diagnosed with glaucoma during a 40-year period, most patients required surgery, with few being successfully controlled by medications alone. A poor visual outcome or the loss of an eye was relatively common.

Anesthesia considerations for patients with de Barsy syndrome.

STUDY OBJECTIVE: To determine anesthetic considerations for patients with de Barsy syndrome, a rare complex whose hallmark findings include cutis laxa, progeria, and multiple orthopedic and ophthalmologic abnormalities. DESIGN: Retrospective chart review. SETTING: Medical center. MEASUREMENTS: A search of Mayo Clinic medical records from 1968 to 2007 identified two patients with de Barsy syndrome who underwent a combined total of 35 anesthetics for diagnostic and surgical procedures. Data collected included: age, gender, ASA physical status, relevant comorbidities, surgical procedures, airway management, vascular access, monitoring, anesthetic induction, maintenance, and other observations. MAIN RESULTS: A wide range of anesthetics and techniques were used. Apart from 4 episodes of intraoperative hyperthermia and postoperative tachycardia, no complications were noted. These episodes may be similar to the nonmalignant hyperthermia reported in osteogenesis imperfecta and Costello syndrome patients. CONCLUSIONS: While the safety of any anesthetic technique cannot be established or extrapolated from a small series, given the extreme rarity of the syndrome, these cases suggest the relative safety of anesthesia in de Barsy syndrome patients.

Incidence and clinical characteristics of childhood glaucoma: a population-based study.

OBJECTIVE: To describe the incidence and clinical characteristics of childhood glaucoma in a defined population of the United States. METHODS: The medical records of all pediatric patients younger than 20 years living in Olmstead County, Minnesota, from January 1, 1965, through December 31, 2004, who met diagnostic criteria for glaucoma or glaucoma suspect were reviewed. RESULTS: Thirty children were diagnosed as having glaucoma during the 40-year study period. The incidence of childhood glaucoma was 2.29 (95% confidence interval, 1.47-3.12) per 100,000 residents younger than 20 years, with the following types and incidences: 19 acquired (1.46/100,000; 0.80-2.12), 6 secondary (0.45/100,000; 0.08-0.82), and 5 primary glaucoma (0.38/100,000; 0.05-0.72). The birth prevalence of primary congenital glaucoma during the 40-year period was 1 per 68 254 residents younger than 20 years or 1.46 per 100,000 (95% confidence interval, 0.03-8.16). Twenty-four individuals with glaucoma suspect were also identified, yielding an incidence of 1.9 per 100,000 residents younger than 20 years (95% confidence interval, 1.14-2.66). CONCLUSION: The incidence of childhood glaucoma in this population was 2.29 per 100,000 residents younger than 20 years or 1 per 43 575 residents younger than 20 years. Acquired and secondary forms of glaucoma were the most common, whereas congenital and juvenile glaucoma were rare.

A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy.

BACKGROUND: Mutations in the Norrie Disease gene, Norrie Disease Pseudoglioma (NDP) lead to a phenotypically heterogeneous group of retinopathies. We report a novel mutation in the NDP gene identified in a patient whose clinical presentation was suggestive of unilateral persistent fetal vasculature (PFV). MATERIALS AND METHODS: Ophthalmic examinations, ocular ultrasounds and sequence analysis of the exons of the NDP gene on peripheral blood DNA were performed. RESULTS: A four-month-old boy was referred to our institution for presumed unilateral retinoblastoma. The clinical and ultrasonographic exams were consistent with PFV and retinal detachment of the left eye as well as retinal fibrovascular changes in the right eye. A vitrectomy of the left eye revealed the absence of a retrolenticular stalk and mutation analysis of the NDP gene of the proband and mother demonstrated a novel missense mutation at codon 66, designated as c. 196G > A at the cDNA level and E66K at the protein level. CONCLUSION: We report a novel mutation in the NDP gene in a patient whose presentation demonstrates the phenotypic heterogeneity of NDP-related disorders.