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Festschrift: Reviews

Reconciling genotype with phenotype: Lessons learned on the Arabian Peninsula

Pages 2-6 | Received 22 Jul 2016, Accepted 25 Jul 2016, Published online: 13 Jan 2017

References

  • Khan AO. Ocular genetic disease in the Middle East. Curr Opin Ophthalmol 2013;24:369–378.
  • Khan AO, Aldahmesh MA, Alkuraya FS. Phenotypes of recessive pediatric cataract in a cohort of children with identified homozygous gene mutations (An American Ophthalmological Society Thesis). Trans Am Ophthalmol Soc 2015;113:T71–T715.
  • Khan AO, Abu Safieh L, Alkuraya FS. Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W). Ophthalmic Genet 2010;31:30–36.
  • Khan AO, Khalil DS, Al Sharif LJ, et al. Germline mosaicism for KIF21A mutation (p.R954L) mimicking recessive inheritance for congenital fibrosis of the extraocular muscles. Ophthalmology 2010;117:154–158.
  • Khan AO, Tamimi M, Lenzner S, et al. Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula. Clin Genet 2016;90:96–98.
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  • Yzer S, Barbazetto I, Allikmets R, et al. Expanded clinical spectrum of enhanced S-cone syndrome. JAMA Ophthalmol 2013;131:1324–1330.
  • Chavala SH, Sari A, Lewis H, et al. An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. Br J Ophthalmol 2005;89:1065–1066.
  • Khan AO, Bergmann C, Eisenberger T, et al. A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula. Br J Ophthalmol 2015;99:488–492.
  • Aldahmesh MA, Khan AO, Hijazi H, et al. Mutations in ALDH1A3 cause microphthalmia. Clin Genet 2013;84:128–131.
  • Knobloch WH, Layer IM. Retinal detachment and encephalocele. J Pediat Ophthal 1971;8:181–184.
  • Seaver LH, Joffe L, Spark RP, et al. Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. Am J Med Genet 1993;46:203–208.
  • Khan AO, Aldahmesh MA, Mohamed JY, et al. The distinct ophthalmic phenotype of Knobloch syndrome in children. Br J Ophthalmol 2012;96:890–895.
  • AlBakri A, Ghazi NG, Khan AO. Biometry, optical coherence tomography, and further clinical observations in Knobloch syndrome. Ophthalmic Genet 2016 Apr 18:1–5. [Epub ahead of print]
  • Aldahmesh MA, Khan AO, Mohamed JY, et al. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. J Med Genet 2011;48:597–601.
  • Khan AO. Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome. Ophthalmic Genet 2012;33:196–199.
  • Aldahmesh MA, Alshammari MJ, Khan AO, et al. The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. Hum Mutat 2013;34:1195–1199.
  • Aldahmesh MA, Khan AO, Mohamed JY, et al. No evidence for locus heterogeneity in Knobloch syndrome. J Med Genet 2013;50:565–566.
  • Khan AO, Alrashed M, Alkuraya FS. ‘Cone dystrophy with supranormal rod response’ in children. Br J Ophthalmol 2012;96:422–426.

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