Structural eye disease
Gene: KERA
RH 1. A novel keratocan mutation causing autosomal recessive cornea plana. Lehmann et al Invest Ophthalmol Vis Sci. 2001 Dec;42(13):3118-22. Mutation in KERA segregating in a family with cornea plana and microphthalmia. 2. A novel KERA mutation associated with autosomal recessive cornea plana. Khan et al Ophthalmic Genet. 2004 Jun;25(2):147-52. - 5 of 6 sibs had small flat corneas, variable anterior chamber depths, and short axial lengths - all affecteds are homozygous for a KERA nonsense mutation. Parents are carriers and unaffected.. Unaffected sib does not carry the mutation. DOESN'T MEET GREEN CRITERIA AS FAR AS I CAN TELL, BUT MIGHT BE WORTHY OF BEING AMBER, ESPECIALLY IF THE KHAN ET AL PHENOTYPE WOULD COUNT AS MICROCORNEA.Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cornea plana congenita, recessive; 217300
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). RH 1. A novel keratocan mutation causing autosomal recessive cornea plana. Lehmann et al Invest Ophthalmol Vis Sci. 2001 Dec;42(13):3118-22. Mutation in KERA segregating in a family with cornea plana and microphthalmia. 2. A novel KERA mutation associated with autosomal recessive cornea plana. Khan et al Ophthalmic Genet. 2004 Jun;25(2):147-52. - 5 of 6 sibs had small flat corneas, variable anterior chamber depths, and short axial lengths - all affecteds are homozygous for a KERA nonsense mutation. Parents are carriers and unaffected.. Unaffected sib does not carry the mutation. DOESN'T MEET GREEN CRITERIA AS FAR AS I CAN TELL, BUT MIGHT BE WORTHY OF BEING AMBER, ESPECIALLY IF THE KHAN ET AL PHENOTYPE WOULD COUNT AS MICROCORNEA.Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cornea plana congenita, recessive; 217300
gene: KERA was added gene: KERA was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KERA were set to Cornea plana congenita, recessive, 217300