Arif O Khan

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. Khan A. Buphthalmos in the setting of persistent hyperplastic primary vitreous cataract. Am J Ophthalmol. 2003;136:945-7 pubmed
    ..To report a case of unilateral persistent hyperplastic primary vitreous cataract presenting with ipsilateral buphthalmos...
  2. Khan A, Bolz H, Bergmann C. Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy. J AAPOS. 2014;18:203-5 pubmed publisher
    ..Genetic analysis revealed both to harbor recessive mutations in IFT140, a cilium gene recently associated with the skeletal ciliopathy conorenal syndrome. ..
  3. Khan A, Shinwari J, Al Tassan N. Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1. J AAPOS. 2016;20:542-544.e2 pubmed publisher
    ..None harbored pathogenic variants, evidence that exotropic Duane syndrome with synergistic divergence is notspecifically caused by mutations in the gene. ..
  4. AlBakri A, Alkuraya F, Khan A. Elevation deficiency in children with recessive RDH12-related retinopathy. J AAPOS. 2015;19:568-70 pubmed publisher
    ..We report 4 children from 3 consanguineous families with bilateral elevation deficiency in the context of retinal dystrophy. All were found to harbor recessive mutations in retinal dehydrogenase 12 (RDH12). ..
  5. Khan A, Alrashed M, Alkuraya F. 'Cone dystrophy with supranormal rod response' in children. Br J Ophthalmol. 2012;96:422-6 pubmed publisher
    ..ERG findings are characteristic and specific for KCNV2 mutations but do not necessarily include a scotopic b-wave flash response that is supranormal under standard ERG conditions. ..
  6. Khan A, Aldahmesh M, Al Ghadeer H, Mohamed J, Alkuraya F. Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. Ophthalmic Genet. 2012;33:235-9 pubmed publisher
    ..Asp218ThrfsX41) that segregated with the phenotype. Recessive ADAMTS17 mutations are a recurrent cause of isolated spherophakia with short stature. In Saudi Arabia this phenotype shows allelic heterogeneity rather than founder effect. ..
  7. Khan A, Becirovic E, Betz C, Neuhaus C, Altmuller J, Maria Riedmayr L, et al. A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. Sci Rep. 2017;7:1411 pubmed publisher
    ..Our finding underlines the potential of WGS to uncover atypically localized, hidden mutations in patients who lack exonic mutations in the known disease genes. ..
  8. Khan A, Aldahmesh M, Alkuraya F. Congenital hereditary endothelial dystrophy, not glaucoma, in a child with iris colobomas. J AAPOS. 2016;20:370-2 pubmed publisher
    ..We highlight the case of a 10-year-old boy with these clinical signs who was initially treated for glaucoma but in fact had congenital hereditary endothelial dystrophy, iris colobomas, and no glaucoma. ..
  9. Meeraalam Z, Khan A. Reasons for unplanned pediatric readmissions at a referral eye center in the Middle East. J AAPOS. 2016;20:362-4 pubmed publisher
    ..Of the top 5 reasons, 3 were related to problems following corneal suturing, often in the context of penetrating keratoplasty, highlighting that children for whom this is done require particular care and follow-up. ..
  10. Khan A. Genetics of primary glaucoma. Curr Opin Ophthalmol. 2011;22:347-55 pubmed publisher
    ..Primary adult-onset open-angle glaucoma rarely follows simple Mendelian genetics, but genomic studies in different populations are revealing potential genetic risk factors for the phenotype. ..

Locale

Detail Information

Publications43

  1. Khan A. Buphthalmos in the setting of persistent hyperplastic primary vitreous cataract. Am J Ophthalmol. 2003;136:945-7 pubmed
    ..To report a case of unilateral persistent hyperplastic primary vitreous cataract presenting with ipsilateral buphthalmos...
  2. Khan A, Bolz H, Bergmann C. Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy. J AAPOS. 2014;18:203-5 pubmed publisher
    ..Genetic analysis revealed both to harbor recessive mutations in IFT140, a cilium gene recently associated with the skeletal ciliopathy conorenal syndrome. ..
  3. Khan A, Shinwari J, Al Tassan N. Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1. J AAPOS. 2016;20:542-544.e2 pubmed publisher
    ..None harbored pathogenic variants, evidence that exotropic Duane syndrome with synergistic divergence is notspecifically caused by mutations in the gene. ..
  4. AlBakri A, Alkuraya F, Khan A. Elevation deficiency in children with recessive RDH12-related retinopathy. J AAPOS. 2015;19:568-70 pubmed publisher
    ..We report 4 children from 3 consanguineous families with bilateral elevation deficiency in the context of retinal dystrophy. All were found to harbor recessive mutations in retinal dehydrogenase 12 (RDH12). ..
  5. Khan A, Alrashed M, Alkuraya F. 'Cone dystrophy with supranormal rod response' in children. Br J Ophthalmol. 2012;96:422-6 pubmed publisher
    ..ERG findings are characteristic and specific for KCNV2 mutations but do not necessarily include a scotopic b-wave flash response that is supranormal under standard ERG conditions. ..
  6. Khan A, Aldahmesh M, Al Ghadeer H, Mohamed J, Alkuraya F. Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. Ophthalmic Genet. 2012;33:235-9 pubmed publisher
    ..Asp218ThrfsX41) that segregated with the phenotype. Recessive ADAMTS17 mutations are a recurrent cause of isolated spherophakia with short stature. In Saudi Arabia this phenotype shows allelic heterogeneity rather than founder effect. ..
  7. Khan A, Becirovic E, Betz C, Neuhaus C, Altmuller J, Maria Riedmayr L, et al. A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. Sci Rep. 2017;7:1411 pubmed publisher
    ..Our finding underlines the potential of WGS to uncover atypically localized, hidden mutations in patients who lack exonic mutations in the known disease genes. ..
  8. Khan A, Aldahmesh M, Alkuraya F. Congenital hereditary endothelial dystrophy, not glaucoma, in a child with iris colobomas. J AAPOS. 2016;20:370-2 pubmed publisher
    ..We highlight the case of a 10-year-old boy with these clinical signs who was initially treated for glaucoma but in fact had congenital hereditary endothelial dystrophy, iris colobomas, and no glaucoma. ..
  9. Meeraalam Z, Khan A. Reasons for unplanned pediatric readmissions at a referral eye center in the Middle East. J AAPOS. 2016;20:362-4 pubmed publisher
    ..Of the top 5 reasons, 3 were related to problems following corneal suturing, often in the context of penetrating keratoplasty, highlighting that children for whom this is done require particular care and follow-up. ..
  10. Khan A. Genetics of primary glaucoma. Curr Opin Ophthalmol. 2011;22:347-55 pubmed publisher
    ..Primary adult-onset open-angle glaucoma rarely follows simple Mendelian genetics, but genomic studies in different populations are revealing potential genetic risk factors for the phenotype. ..
  11. Khan A, Al Mesfer S. Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence. J AAPOS. 2015;19:463-5 pubmed publisher
    ..Further study is needed to understand how frequently recessive COL25A1 mutations underlie these specific ocular phenotypes. ..
  12. Khan A, Shinwari J, Al Sharif L, Khalil D, Al Tassan N. Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A. Arch Ophthalmol. 2011;129:936-40 pubmed publisher
    ..Clinicians can use the OKN drum to assess obligate female carriers in a family suspected of having X-linked nystagmus. ..
  13. Khan A, Shinwari J, Abu Dhaim N, Khalil D, Al Sharif L, Al Tassan N. Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3). Mol Vis. 2011;17:971-6 pubmed
    ..Linkage analysis in this unique family suggests that childhood strabismus can be recessive and that different phenotypic forms of childhood strabismus can share the same underlying genotype. ..
  14. Khan A, Aldahmesh M, Mohamed J, Al Mesfer S, Alkuraya F. The distinct ophthalmic phenotype of Knobloch syndrome in children. Br J Ophthalmol. 2012;96:890-5 pubmed publisher
    ..Although it is a defining feature of the syndrome, clinically discernible occipital defect is not a sine qua non for the diagnosis. Ophthalmologists are uniquely able to diagnose Knobloch syndrome. ..
  15. Khan A, Aldahmesh M, Meyer B. Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation. Ophthalmology. 2008;115:730-3 pubmed publisher
    ..The presence of peripheral retinal changes was not useful for carrier prediction in a family harboring ND. There are likely additional loci responsible for phenotypic expression. ..
  16. Khan A, Bifari I, Bolz H. Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome. Ophthalmology. 2015;122:1726-7.e2 pubmed publisher
  17. Khan A, Aldahmesh M, Alkuraya F. Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. Mol Vis. 2011;17:2570-9 pubmed
    ..Complete dislocation of the crystalline lens into the anterior chamber during early childhood can occur in young children with this unique phenotype. ..
  18. Khan A, Abu Amero K. Infantile esotropia with cross-fixation, inability to abduct, and underlying horizontal gaze palsy with progressive scoliosis. J AAPOS. 2014;18:389-91 pubmed publisher
    ....
  19. Khan A, Al Saif A, Kambouris M. A novel KERA mutation associated with autosomal recessive cornea plana. Ophthalmic Genet. 2004;25:147-52 pubmed
    ..This novel point mutation in KERA is the fourth thus far described. The ocular phenotype is characteristic of autosomal recessive cornea plana. ..
  20. Khan A, Aldahmesh M, Al Amri A. Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. Ophthalmic Genet. 2008;29:67-71 pubmed publisher
    ..FOXC1 mutation can be a cause of congenital glaucoma with clinical aniridia. Although such infants resemble the AN2 phenotype, the glaucoma of AN2 due to PAX6 mutation is typically secondary with onset several years after birth. ..
  21. Khan A, Aldahmesh M, Meyer B. Recessive cornea plana in the Kingdom of Saudi Arabia. Ophthalmology. 2006;113:1773-8 pubmed
    ....
  22. Khan A, Aldahmesh M, Ghadhfan F, Al Mesfer S, Alkuraya F. Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families. Mol Vis. 2009;15:1407-11 pubmed
    ..Coralliform cataract can represent variable expressivity for the same mutation rather than a distinct entity. ..
  23. Khan A, Oystreck D, Al Tassan N, Al Sharif L, Bosley T. Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu). Ophthalmology. 2008;115:2262-5 pubmed publisher
    ..The author(s) have no proprietary or commercial interest in any materials discussed in this article. ..
  24. Khan A, Aldahmesh M, Mohamed J, Alkuraya F. Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome). Ophthalmic Genet. 2012;33:89-95 pubmed publisher
    ..Lens opacities that did not have this characteristic morphology in a suspected female carrier were not a carrier sign, even in the context of her affected family members. ..
  25. Khan A, Aldahmesh M, Mohamed J, Alkuraya F. Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula. Br J Ophthalmol. 2012;96:650-5 pubmed publisher
    ..Primary management in children is typically spectacle correction based on cycloplegic retinoscopy to treat significant refractive error rather than paediatric cataract surgery. ..
  26. Khan A, Aldahmesh M, Meyer B. Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C). Am J Ophthalmol. 2007;144:949-952 pubmed
    ..The microcornea may have been caused by an inductive effect on the developing cornea from the abnormal lens and/or reduced CRYAA molecular chaperoning of the cornea. ..
  27. Khan A, Abu Safieh L, Eisenberger T, Bolz H, Alkuraya F. The RPGRIP1-related retinal phenotype in children. Br J Ophthalmol. 2013;97:760-4 pubmed publisher
    ..Spectacle correction of high refractive errors should be encouraged. ..
  28. Khan A, Shaheen R, Alkuraya F. The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder. J AAPOS. 2014;18:362-7 pubmed publisher
    ....
  29. Khan A, Khan Z. Gustatory lid retraction: an unusual congenital cranial dysinnervation disorder. J AAPOS. 2017;: pubmed publisher
    ..This report documents gustatory lid retraction as an unusual congenital cranial dysinnervation...
  30. Khan A. Retinoscopic (refractive) estimation of axial length in paediatric aphakia: a comparison with ultrasonic measurement. Br J Ophthalmol. 2006;90:987-9 pubmed
    ..To compare paediatric axial length values estimated from the aphakic refraction alone with axial length values measured by ultrasound...
  31. Khan A. Persistent diplopia following secondary intraocular lens placement in patients with sensory strabismus from uncorrected monocular aphakia. Br J Ophthalmol. 2008;92:51-3 pubmed
    ..To evaluate the incidence of persistent diplopia after secondary posterior chamber intraocular lens (PCIOL) implantation in patients with prolonged uncorrected monocular aphakia with associated sensory strabismus...
  32. Khan A. Bilateral inverse globe retraction (Duane's) syndrome. Indian J Ophthalmol. 2007;55:388-9 pubmed
    ..A case of true inverse Duane's retraction syndrome, bilateral inverse globe retraction syndrome apparently due to abnormal innervation, is the subject of this clinical report...
  33. Khan A, Oystreck D, Koenig M, Salih M. Ophthalmic features of ataxia telangiectasia-like disorder. J AAPOS. 2008;12:186-9 pubmed
    ..The purpose of this article is to describe the ophthalmic features of ATLD...
  34. Khan A, Al Assiri A. Lens coloboma associated with a ciliary body cyst. Ophthalmic Genet. 2007;28:208-9 pubmed
    ..The purpose of this report is to describe the association of lens coloboma with an adjacent cyst in the ciliary body and to suggest that ciliary body cysts may be an under-recognized cause of congenital lens coloboma...
  35. Khan A, Khalil D, Al Tassan N. Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian Peninsula. Ophthalmic Genet. 2008;29:25-8 pubmed publisher
    ..To assess for KIF21A mutation in the first two reported Saudi Arabian families with the classic phenotype of congenital fibrosis of the extraocular muscles type I (CFEOM1)...
  36. Khan A, Aldahmesh M, Mohamed J, Alkuraya F. Congenital glaucoma with acquired peripheral circumferential iris degeneration. J AAPOS. 2013;17:105-7 pubmed publisher
    ..Genetic testing revealed a common homozygous CYP1B1 mutation in one (p.Gly61Glu) and a novel heterozygous FOXC1 deletion in the other (p.Tyr81_Pro95del)...
  37. Khan A, Aldahmesh M. PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia. Ophthalmic Genet. 2008;29:145-8 pubmed publisher
    ..The purpose of this study to assess for PAX6 mutation in two unrelated families with classic hereditary aniridia from the Arabian Peninsula...
  38. Khan A, Kahn A. Cycloplegic refractions in children who never wore and who always wore prescribed spectacles for refractive accommodative esotropia: exploring the natural history of this form of strabismus and the effect of treatment on their hyperopia. Binocul Vis Strabismus Q. 2009;24:151-6 pubmed
    ..To compare cycloplegic refractions in accommodative esotropes who never and who always wore prescribed spectacles...
  39. Khan A, Khalil D, Al Sharif L, Al Ghadhfan F, Al Tassan N. Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles. Ophthalmology. 2010;117:154-8 pubmed publisher
    ..To document the genotype for familial congenital fibrosis of the extraocular muscles (CFEOM) with apparent autosomal recessive inheritance...
  40. Khan A, Shinwari J, Omar A, Al Sharif L, Khalil D, Alanazi M, et al. Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. Mol Vis. 2011;17:218-24 pubmed
    ..Further studies of such families will hopefully uncover the specific locus(loci). ..
  41. Khan A. Conditions that can be mistaken as early childhood glaucoma. Ophthalmic Genet. 2011;32:129-37 pubmed publisher
    ..These signs also occur in developmental glaucoma (anterior segment dysgeneses) with infantile onset. However, similar findings can occur in other pediatric conditions which are sometimes are mistaken as early childhood glaucoma...
  42. Khan A. The clinical presentation of bradyopsia in children. J AAPOS. 2017;: pubmed publisher
    ..This case series highlights the clinical presentations and features of 5 affected children (3 Arab families) who harbored the same homozygous RGS9 frameshift mutation, which seems to represent a founder effect for the Arabian Peninsula...
  43. Khan A, Aldahmesh M, Al Abdi L, Mohamed J, Hashem M, Al Ghamdi I, et al. Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. Ophthalmic Genet. 2011;32:138-42 pubmed publisher
    ..The fact that the 9% of cases that were CYP1B1-negative did not have mutations in LTBP2 suggests that there exists at least 1 additional locus for this condition. ..