Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation [10]

British Journal of Ophthalmology

Volumn 89, Issue 11, 2005, Pages 1538-1540

  Khan, Arif O ^a   Aldahmesh, M ^b   Al Saif, A ^b   Meyer, B ^b  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

KERATOCAN;

ADOLESCENT; ADULT; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; FLAT CORNEA; GENE; GENE MUTATION; HUMAN; HYPERMETROPIA; KERA GENE; KERATOMETRY; LETTER; PRIORITY JOURNAL; SENILE ARCH;

ADOLESCENT; ADULT; CHILD; CORNEA; CORNEAL DISEASES; EYE DISEASES, HEREDITARY; EYE PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PROTEOGLYCANS;

EID: 27344458726     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2005.073510     Document Type: Letter

References (7)

1. Pellegata NS, Dieguez-Lucena JL, Joensuu T, et al. Mutations in KERA, encoding keratocan, cause cornea plana. Nat Genet 2000;25:91-5.
2. Lehmann OJ, El-Ashry MF, Ebenezer N, et al. A novel keratocan mutation causing autosomal recessive cornea plana. Invest Ophthatmol Vis Sci 2001;42:3118-22.
3. Khan AO, Al-Saif A, Kamburosis M. A novel KERA mutation associated with autosomal recessive cornea plana. Ophthal Genet 2004;25:147-52.
4. Sridhar MS, Mashesh S, Bansal AK, et al. Pellucid marginal corneal degeneration. Ophthalmology 2004;111:1102-7.
5. Sridhar MS, Mahesh S, Bansak AK, et al. Superior pellucid marginal corneal degeneration. Eye 2004;18:393-9.
6. Forsius H, Damsten M, Eriksson AW, et al. Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland. Acta Ophthalmol Scand 1998;76:196-203.
7. Dipple KM, McCabe ERB. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet 2000;66:1729-35.