Sridevi Abboy - Academia.edu (original) (raw)
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Papers by Sridevi Abboy
Genetics in Medicine, Aug 30, 2012
Genetics in Medicine, 2012
Journal of Pediatric Ophthalmology & Strabismus, 2016
To examine the incidence, presentation, and outcome of optic gliomas in children with neurofibrom... more To examine the incidence, presentation, and outcome of optic gliomas in children with neurofibromatosis type 1 (NF1) in Southern California Kaiser Permanente. Methods: The authors queried the Southern California Kaiser Permanente electronic medical record database to find patients diagnosed as having NF1. Genetics, ophthalmology, and imaging medical records of patients with optic glioma were reviewed. Results: A total of 708 patients younger than 21 years had a diagnosis of NF1 in Southern California Kaiser Permanente and 30 (4.2%) had a diagnosis of optic glioma. The average age of diagnosis was 5 years, with a range of 18 months to 12 years. Half (15 of 30) of the patients diagnosed as having optic glioma presented with symptoms (eg, vision loss, proptosis, and precocious puberty). Eight of 15 of the symptomatic patients were treated with surgery and/or chemotherapy. Symptomatic children were diagnosed later than those diagnosed through routine screening (5.7 vs 3.9 years old). The oldest child presented with symptoms at age 12 years. One asymptomatic patient had prophylactic chemotherapy. Sixty-three percent (19 of 30) of the gliomas were bilateral, 23% (7 of 30) were right-sided, and 13% (4 of 30) were left-sided. Fifty-three percent (17 of 30) of the gliomas involved the optic chiasm. Conclusions: Screening practices for optic glioma are inconsistent. Most children with NF1 at risk for optic glioma do not have even one visit with an ophthalmologist. Children with NF1 can develop asymptomatic optic glioma as early as age 1 year. Annual ophthalmologic examination and screening for precocious puberty in children with NF1 is important for early diagnosis of optic gliomas and may reduce morbidity.
Journal of Genetic Counseling
Genetics in Medicine, Aug 30, 2012
Genetics in Medicine, 2012
Journal of Pediatric Ophthalmology & Strabismus, 2016
To examine the incidence, presentation, and outcome of optic gliomas in children with neurofibrom... more To examine the incidence, presentation, and outcome of optic gliomas in children with neurofibromatosis type 1 (NF1) in Southern California Kaiser Permanente. Methods: The authors queried the Southern California Kaiser Permanente electronic medical record database to find patients diagnosed as having NF1. Genetics, ophthalmology, and imaging medical records of patients with optic glioma were reviewed. Results: A total of 708 patients younger than 21 years had a diagnosis of NF1 in Southern California Kaiser Permanente and 30 (4.2%) had a diagnosis of optic glioma. The average age of diagnosis was 5 years, with a range of 18 months to 12 years. Half (15 of 30) of the patients diagnosed as having optic glioma presented with symptoms (eg, vision loss, proptosis, and precocious puberty). Eight of 15 of the symptomatic patients were treated with surgery and/or chemotherapy. Symptomatic children were diagnosed later than those diagnosed through routine screening (5.7 vs 3.9 years old). The oldest child presented with symptoms at age 12 years. One asymptomatic patient had prophylactic chemotherapy. Sixty-three percent (19 of 30) of the gliomas were bilateral, 23% (7 of 30) were right-sided, and 13% (4 of 30) were left-sided. Fifty-three percent (17 of 30) of the gliomas involved the optic chiasm. Conclusions: Screening practices for optic glioma are inconsistent. Most children with NF1 at risk for optic glioma do not have even one visit with an ophthalmologist. Children with NF1 can develop asymptomatic optic glioma as early as age 1 year. Annual ophthalmologic examination and screening for precocious puberty in children with NF1 is important for early diagnosis of optic gliomas and may reduce morbidity.
Journal of Genetic Counseling