Ho D.K.,Thomas Jefferson University |
Flannigan K.P.,Pediatric Ophthalmology and Ocular Genetics |
Levin A.V.,Thomas Jefferson University
Journal of Glaucoma | Year: 2016
Purpose: To describe a novel technique to facilitate Tube Extender implantation. Materials and Methods: Two Tube Extender implantations were performed on 2 eyes of 2 patients. Results: Before implanting the Tube Extender onto the cut tube of the glaucoma drainage device, a 30-G cannula, coated with viscoelastic, is threaded through the distal end of the extender and emerges from the proximal end. The cannula, with the extender laced over it, is then inserted into the cut tube, and the surgeon slides the Tube Extender down the cannula for insertion onto the cut tube. Conclusions: Retraction of the glaucoma drainage device from the anterior chamber occurs for various reasons, often the growth of the globe in pediatric patients. Tube Extenders can be implanted to lengthen the glaucoma drainage device to reenter the anterior chamber. However, the surgical technique can often be technically difficult to perform due to the flexibility of the glaucoma drainage device tube. We present a novel technique for Tube Extender implantation that makes the procedure easier to perform. Copyright © 2014 Wolters Kluwer Health, Inc. All rights reserved.
Weh E.,Medical College of Wisconsin |
Reis L.M.,Medical College of Wisconsin |
Happ H.C.,Medical College of Wisconsin |
Levin A.V.,Pediatric Ophthalmology and Ocular Genetics |
And 6 more authors.
Human Genetics | Year: 2014
Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly lack a genetic diagnosis. We performed whole exome sequencing of 27 patients with syndromic or isolated Peters anomaly to search for pathogenic mutations in currently known ocular genes. Among the eight previously recognized Peters anomaly genes, we identified a de novo missense mutation in PAX6, c.155G>A, p.(Cys52Tyr), in one patient. Analysis of 691 additional genes currently associated with a different ocular phenotype identified a heterozygous splicing mutation c.1025+2T>A in TFAP2A, a de novo heterozygous nonsense mutation c.715C>T, p.(Gln239*) in HCCS, a hemizygous mutation c.385G>A, p.(Glu129Lys) in NDP, a hemizygous mutation c.3446C>T, p.(Pro1149Leu) in FLNA, and compound heterozygous mutations c.1422T>A, p.(Tyr474*) and c.2544G>A, p.(Met848Ile) in SLC4A11; all mutations, except for the FLNA and SLC4A11 c.2544G>A alleles, are novel. This is the first study to use whole exome sequencing to discern the genetic etiology of a large cohort of patients with syndromic or isolated Peters anomaly. We report five new genes associated with this condition and suggest screening of TFAP2A and FLNA in patients with Peters anomaly and relevant syndromic features and HCCS, NDP and SLC4A11 in patients with isolated Peters anomaly. © 2014, Springer-Verlag Berlin Heidelberg.
Sadagopan K.A.,Pediatric Ophthalmology and Ocular Genetics |
Wasserman B.N.,Wills Eye Institute
Current Opinion in Ophthalmology | Year: 2013
PURPOSE OF REVIEW: To provide clinically relevant information regarding the evaluation and current treatment options for oculomotor nerve palsies. We survey recent literature and provide some insights into these studies. RECENT FINDINGS: Recent case reports highlight emerging new causes of oculomotor cranial nerve palsies, including sellar chordoma, odontogenic abscess, nonaneurysmal subarachnoid hemorrhage, polycythemia, sphenoiditis, neurobrucellosis, interpeduncular fossa lipoma, metastatic pancreatic cancer, leukemia, and lymphoma. Surgical studies have focused on modifications and innovations regarding strabismus surgery for this condition. New globe fixation procedures may include fixation to the medial orbital wall by precaruncular and retrocaruncular approaches, apically based orbital bone periosteal flap fixation and the suture/T-plate anchoring platform system. SUMMARY: Management of oculomotor nerve palsy depends in part upon the underlying cause and anatomical location of the lesion. Careful clinical evaluation and appropriate imaging can identify a definitive cause in most cases. Surgical options depend on the number, extent, and severity of the muscles involved as well as the presence or absence of signs of aberrant regeneration. The clinician should also address issues that arise due to involvement of the pupil and accommodation. Strabismus surgery can be challenging but also rewarding with appropriate selection and staging of procedures. © 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins.
Dotan G.,Pediatric Ophthalmology and Ocular Genetics |
Truong B.,Pediatric Ophthalmology and Ocular Genetics |
Snitzer M.,Pediatric Ophthalmology and Ocular Genetics |
McCauley C.,Public Citizens for Children and Youth |
And 4 more authors.
JAMA Ophthalmology | Year: 2015
IMPORTANCE: Low-socioeconomic urban children often do not have access to ophthalmic care. OBJECTIVE: To characterize the demographic characteristics and ophthalmic conditions in children attending Give Kids Sight Day (GKSD), an outreach ophthalmic care program held annually in Philadelphia, Pennsylvania, providing vision screening and immediate treatment when needed. DESIGN, SETTING, AND PARTICIPANTS: Retrospective case-series study of children attending GKSD in 2012 (GKSD 2012) at an ophthalmology center in Philadelphia. Registration forms and records of all children attending GKSD 2012 were reviewed. MAINOUTCOMESANDMEASURES: Demographic characteristics, insurance status, spoken languages, reasons for attending, prior failure of vision screening, and attendance pattern of previous events were analyzed. The ophthalmological findings of these children were examined, including refractive errors, need for optical correction, and diagnoses for which continuous ophthalmic care was necessary. For children who needed ophthalmic follow-up, the rate of return to clinic and barriers for continuous care were analyzed. RESULTS: We studied 924 children (mean age, 9 years; age range, 0-18 years; 51% female; 25% speaking a non-English language) coming from 584 families who attended GKSD 2012, of whom 27% were uninsured and 10% were not aware of their insurance status. Forty-two percent of participants had public insurance, which covered vision care and glasses, but 35% did not know their benefits and did not realize vision care was covered. Forty-nine percent of children attended because they failed community vision screening. Provision of free glasses and failure of previous vision screening were the most common reasons families elected to attend GKSD (64% and 49%, respectively). Eighty-five percent of children attended GKSD 2012 for the first time, whereas 15% attended prior events. Glasses were provided to 61% of attendees. Ten percent of the attendees needed continuous ophthalmic care, most commonly for amblyopia. Ten children needed ocular surgery for cataract, strabismus, nystagmus, ptosis, or nasolacrimal duct obstruction. With the assistance of a social worker, 59% of children requiring continuous treatment returned to the clinic, compared with 2% in prior years before social worker intervention. CONCLUSIONS AND RELEVANCE: Programs suchas GKSD can bridge the gap between successful vision screening and ophthalmic treatment, a gap that often occurs in low-socioeconomic urban populations. Those with public insurance coverage for vision services may not realize these services are covered. Social worker intervention is useful in overcoming common barriers to follow-up care.
Zhang L.,Pediatric Ophthalmology and Ocular Genetics |
Zhang L.,Chongqing Medical University |
Lai Y.-H.,Pediatric Ophthalmology and Ocular Genetics |
Lai Y.-H.,Kaohsiung Medical University |
And 4 more authors.
American Journal of Medical Genetics, Part A | Year: 2015
Isolated ectopia lentis is usually autosomal dominant and commonly due to the mutations of FBN1 gene. We report on a family with ectopia lentis. The propositus is a 6-year-old boy with bilateral superior-temporal ectopia lentis. His echocardiogram was normal and he did not meet the revised Ghent criteria for Marfan syndrome. Molecular genetic testing revealed c.1948 C>T (p.Arg650Cys) in FBN1. The mother has visual acuity of 20/20 with -4.50 right eye and -2.50 left eye. She has no evidence of ectopia lentis. DNA analysis revealed that she has the same FBN1 mutation. Seven other maternal family members also have ectopia lentis. In conclusion, we report on a case of early-onset autosomal dominant isolated ectopia lentis caused by FBN1 mutation that has previously been reported only in Marfan syndrome. The child's mother presumably represents a rare case of nonpenetrance. © 2015 Wiley Periodicals, Inc.