Genomes and Genes
Alex V Levin
Affiliation: Wills Eye Hospital
- Genetics for the ophthalmologistKarthikeyan A Sadagopan
Wills Eye Institute, Philadelphia, Pennsylvania, USA
Oman J Ophthalmol 5:144-9. 2012..Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling...
- Retinal hemorrhages: advances in understandingAlex V Levin
Pediatric Ophthalmology and Ocular Genetics, Wills Eye Institute, 840 Walnut Street, 12th Floor, Philadelphia, PA 19107 5109, USA
Pediatr Clin North Am 56:333-44. 2009..Detailed description of the hemorrhages and documentation are critical to diagnosis. Vitreoretinal traction appears to be the major causative factor. Outcome is largely dependent on brain and optic nerve injury...
- Retinal haemorrhage description toolAnamika Tandon
Department of Ophthalmology and Visual Sciences, Toronto, Canada
Br J Ophthalmol 95:1719-22. 2011..There are no standardised and validated protocols to describe them in a consistent manner. The aim of this web-based study was to establish the reliability and validity of a new retinal haemorrhage description tool...
- Albinism for the busy clinicianAlex V Levin
Wills Eye Institute, Pediatric Ophthalmology and Ocular Genetics, Philadelphia, Pennsylvania 19107, USA
J AAPOS 15:59-66. 2011..In addition to the ocular and systemic manifestations, ophthalmologists must be familiar with the specific visual needs and psychological challenges of these individuals as well as those of their families...
- Retinal hemorrhage in abusive head traumaAlex V Levin
Pediatric Ophthalmology and Ocular Genetics, Wills Eye Institute, Suite 1210, 840 Walnut St, Philadelphia, PA 19107, USA
Pediatrics 126:961-70. 2010....
- Fee splitting in ophthalmologyAlex V Levin
Pediatric Ophthalmology and Ocular Genetics, Wills Eye Institute, Philadelphia, PA, USA
Can J Ophthalmol 46:21-7. 2011..A comparative view between 3 countries, Canada, the United States, and Oman, was conducted; illustrating that even in disparate cultures, there may be some universality to the application of ethical principles...
- Ocular manifestations of 22q11.2 microduplicationJose A Cordovez
Ocular Genetics, Wills Eye Institute, Philadelphia, Pennsylvania
Ophthalmology 121:392-8. 2014..To report a new ocular manifestation of the dup22q11 syndrome and explore involved genes that may offer insight to mechanisms of pathogenesis...
- Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) GeneJose A Cordovez
a Ocular Genetics, Wills Eye Institute, Philadelphia, PA, USA
Ophthalmic Genet 36:257-64. 2015..To report the occurrence of intraretinal cystoid spaces presumably due to retinal degeneration caused by CRB1 mutations, and the response to treatment with carbonic anhydrase inhibitors...
- Macular cystoid spaces in patients with retinal dystrophyMichelle D Lingao
a Wills Eye Hospital, Philadelphia, Pennsylvania, USA
Ophthalmic Genet 37:377-383. 2016..Non leaking macular cystoid spaces (MCS) are seen in some retinal dystrophies. Carbonic anhydrase inhibitor (CAI) treatment may reduce the size of MSC and improve vision...
- Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK geneYu Hung Lai
a Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA
Ophthalmic Genet 37:424-426. 2016..Cystoid macular edema (CME) and non-leaking intraretinal cystoid spaces (ICS) have different pathophysiologic mechanisms...
- How genetics works? An illustrative case reportVikas Khetan
Department of Ocular Genetics, Wills Eye Hospital, Philadelphia, PA, USA
Indian J Ophthalmol 64:399-402. 2016..The growing field of ocular genetics now allows for improved diagnosis using step-wise cost efficient testing as demonstrated herein. ..
- Giant Ocular Horn Occurring in a 10-Year-Old FemaleBlair K Armstrong
Neuro Ophthalmology, Oculoplastics and Orbital Surgery, University of Southwestern Texas Medical Center, Dallas, Texas Oculoplastics and Orbital Surgery Service, Pediatric Ophthalmology and Ocular Genetics Service, and Department of Pathology, Wills Eye Hospital, Philadelphia, PA
Ophthal Plast Reconstr Surg . 2016..The authors present a patient who underwent a perinatal buccal mucosal graft for corneal perforation due to congenital corneal ectasia, most likely resulting from Peters anomaly. She developed a giant ocular horn 10 years later...
- Peters anomaly in cri-du-chat syndromeWilliam C Hope
Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, Pennsylvania
J AAPOS 19:277-9. 2015..We report the first child with cri-du-chat and the findings of unilateral corneal staphyloma due to Peters anomaly and retinal dysplasia. ..
- Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and SonKarthikeyan Arcot Sadagopan
Pediatric Ophthalmology and Ocular Genetics, Wills Eye Institute, Philadelphia, PA, USA and
Ophthalmic Genet 36:156-9. 2015..Leber congenital amaurosis (LCA) is most often an autosomal recessive disorder. We report a father and son with autosomal dominant LCA due to a mutation in the CRX gene...
- Outcomes of an inner-city vision outreach program: give kids sight dayGad Dotan
Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania
JAMA Ophthalmol 133:527-32. 2015..Low-socioeconomic urban children often do not have access to ophthalmic care...
- Patterns of retinal hemorrhage associated with increased intracranial pressure in childrenGil Binenbaum
Division of Ophthalmology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Pediatrics 132:e430-4. 2013..We examined the incidence and patterns of RHs associated with increased ICP in children without trauma, measured by lumbar puncture (LP)...
- Evaluation and management of retinal hemorrhages in infants with and without abusive head traumaBrian J Forbes
Department of Ophthalmology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
J AAPOS 14:267-73. 2010..Ascertainment of abusive head trauma is critical to prevent a potentially fatal recurrence...
- Macular cysts in retinal dystrophyAnuradha Ganesh
Pediatric Ophthalmology and Ocular Genetics, Wills Eye Institute, Philadelphia, Pennsylvania 19107 5109, USA
Curr Opin Ophthalmol 22:332-9. 2011..To describe the entity of macular cysts in retinal dystrophy, differentiate it from cystoid macular edema (CME), and review the role of carbonic anhydrase inhibitors in management...
- Improving access to vision screening in urban Philadelphia elementary schoolsLisa A Hark
Department of Research, Wills Eye Hospital, Philadelphia, Pennsylvania Department of Ophthalmology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania Electronic address
J AAPOS 20:439-443.e1. 2016....
- Anterior Chamber Pathology in Alagille SyndromeDerek K Ho
Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA
Ocul Oncol Pathol 2:270-275. 2016..We present the second report of ocular pathology in two cases of Alagille syndrome...
- Cost and effectiveness of an eye care adherence program for Philadelphia children with significant visual impairmentLaura T Pizzi
1Jefferson School of Pharmacy, Thomas Jefferson University, Philadelphia, Pennsylvania
Popul Health Manag 18:223-31. 2015..CECAP significantly improved adherence to eye care but comes at an additional cost. Future efforts should focus on reducing operational efficiencies and targeting CECAP based on predictors of follow-up...
- Early onset ectopia lentis due to a FBN1 mutation with non-penetranceLi Zhang
Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania
Am J Med Genet A 167:1365-8. 2015..The child's mother presumably represents a rare case of nonpenetrance...
- Anirdia-like phenotype caused by 6p25 dosage aberrationsKarthikeyan Arcot Sadagopan
Ocular Genetics, Wills Eye Institute, Philadelphia, Pennsylvania Department of Pediatric Ophthalmology, Strabismus and Ocular Genetics, Ocular Genetics Service, Aravind Eye Hospital, Madurai, India
Am J Med Genet A 167:524-8. 2015..Distinguishing these two syndromes has critical implications for prognosis and treatment. We demonstrate how chromosomal microarray can be instrumental in differentiating these phenotypes...
- Unusual retinal abnormalities in sisters with tetralogy of FallotMario T Zanolli
Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania
J AAPOS 18:601-4. 2014..We report unusual focal bilateral retinal defects in sisters with TOF. ..
- Anterior lentiplane associated with posterior lenticonus and microcorneaMichelle D Lingao
Pediatric Ophthalmology and Ocular Genetics, Wills Eye Institute, Philadelphia, Pennsylvania
J AAPOS 18:191-2. 2014..We report a 12-year-old boy with a rare condition consisting of familial bilateral anterior lentiplane (a flat anterior lens capsule) posterior lenticonus, and microcornea. ..
- The challenges to ophthalmologic follow-up care in at-risk pediatric populationsSummer Williams
Jefferson Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA
J AAPOS 17:140-3. 2013..To identify barriers to ophthalmological follow-up in high-risk children who are identified by vision screening and eye examination...
- Pediatric glaucoma terminologyAnuradha Ganesh
Pediatric Ophthalmology and Ocular Genetics, Wills Eye Institute, Philadelphia, Pennsylvania Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman
Am J Med Genet A 161:3205-15. 2013..The objective of this report is to assist geneticists in understanding glaucoma and recognizing the importance of detailed terminology in clinical genetic diagnosis...
- Vertically oval corneas in a child with holoprosencephalyEsther S Lee
Thomas Jefferson Medical College, Philadelphia, PA, USA
J Pediatr Ophthalmol Strabismus 49:e30-2. 2012..The etiology of vertically oval corneas is unclear. This report presents a case of bilateral vertical oval corneas in a male infant with semilobar holoprosencephaly...
- Ocular anomalies in an infant with Klinefelter SyndromeAlexander T Juhn
Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA
Ophthalmic Genet 33:232-4. 2012..Here we present a 2-month-old infant with Klinefelter syndrome and a unique combination of ocular abnormalities including microphthalmia, cataracts, and malformed pupils...
- Hypertensive retinopathy in a child caused by pheochromocytoma: identification after a failed school vision screeningMichael D Tibbetts
Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania 19107 5109, USA
J AAPOS 16:97-9. 2012..The identification of an abdominal malignancy through a school vision screening may have saved this child's life. The need for repeated blood pressure measurement is also highlighted...
- Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membraneJohn J Castorino
Department of Pathology, Anatomy, and Cell Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
Invest Ophthalmol Vis Sci 52:6774-84. 2011..Q215X) causes juvenile cataract with a dominant inheritance pattern. In the present study, in vitro and in vivo experimental models were used to gain insight into how the SLC16A12 (c.643C>T) mutation leads to cataract formation...