- ►bmj.com [PDF] AO Khan, M Aldahmesh, A Al-Saif, B Meyer - British Medical Journal, 2005 - bjo.bmj.com Bilateral naevus of Ota with choroidal melanoma and diffuse retinal pigmentation
in a dark skinned person Naevus of Ota (naevus fusculocoeruleus
ophthalmomaxillaris) was described by the Japanese dermatologist, Ota, in ... Cited by 8 - Related articles - All 8 versions
AO Khan, M Aldahmesh, B Meyer - Ophthalmology, 2006 - Elsevier To characterize the molecular genetics of clinically diagnosed recessive cornea
plana in the Kingdom of Saudi Arabia and establish the presence of common or
limited founders (ancestors who originally harbored the disease-causing ... Cited by 6 - Related articles - All 20 versions
A Khan, M Kambouris - Ophthalmic Genetics, 2004 - informahealthcare.com Abstract Purpose: To report a novel KERA mutation associated with autosomal
recessive cornea plana in members of a nuclear family and to describe their
ophthalmic phenotypes. Methods: Ophthalmic examination, biometry, and ... Cited by 10 - Related articles - BL Direct - All 4 versions
ND Ebenezer, CB Patel, SM Hariprasad, LL … - Archives of Ophthalmology, 2005 - archopht.highwire.org You are seeing this message because your Web browser does not support basic Web
standards. Find out more about why this message is appearing and what you can do
to make your experience on this site better. ... Background Autosomal ... Cited by 5 - Related articles - BL Direct - All 4 versions
AO Khan, M Aldahmesh, B Meyer - Ophthalmic Genetics, 2006 - informahealthcare.com Purpose: To report the development of corneal ectasia and hydrops in a patient
with autosomal recessive cornea plana. Methods: Retrospective observational case
report. Results: A 16-year-old male with a prior diagnosis of autosomal ... Cited by 2 - Related articles - BL Direct - All 5 versions
- ►nih.gov AM Alazami, A Al-Saif, A Al-Semari, S Bohlega … - The American Journal of Human Genetics, 2008 - Elsevier Hypogonadism, alopecia, diabetes mellitus, mental retardation, and
extrapyramidal syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare
autosomal recessive multisystemic disorder. We have identified a founder ... Cited by 2 - Related articles - All 9 versions
- ►iovs.org OJ Lehmann, MF El-ashry, ND Ebenezer, L … - Investigative ophthalmology & visual science, 2001 - ARVO PURPOSE. Mutations in keratocan (KERA), a small leucine-rich proteoglycan, have
recently been shown to be responsible for cases of autosomal recessive cornea
plana (CNA2). A consanguineous pedigree in which cornea plana cosegregated ... Cited by 18 - Related articles - BL Direct - All 4 versions
A Sigler-Villanueva, E Tahvanainen, S Lindh, … - Ophthalmic genetics, 1997 - informahealthcare.com Abstract Cornea plana may occur in connection with malformations of the eye or
of other parts of the body. As an isolated ocular anomaly, it may be inherited
in an autosomal recessive or in an autosomal dominant fash- ion. We have ... Cited by 14 - Related articles - BL Direct - All 4 versions
P Liskova, PG Hysi, D Williams, JR Ainsworth, … - Molecular Vision, 2007 - molvis.org Cornea plana is a rare disorder in which the cornea is flattened with a low
refractive power. Other features include microcornea, central corneal opacity, a
widened corneal lim- bus, early arcus senilis, shallow anterior chamber, ... Cited by 4 - Related articles - View as HTML - All 3 versions
- ►psu.edu [PDF] LJ Fang, W Li, N Chalhoub, J Feingold, J … - Annales de genetique, 2002 - Elsevier Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder which afflicts
about one in 3500 individuals. NF1 is characterized by clinical features of
café-au-lait spots, Lisch nodules and fibromatous skin tumours. Patients ... Cited by 5 - Related articles - BL Direct - All 7 versions
