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Abstract #61697 Published in IGR 17-1
A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma
Kumari D; Tiwari A; Choudhury M; Kumar A; Rao A; Dixit MJournal of Glaucoma 2016; 25: e106-e109
PURPOSE: Keratocan is a cornea-specific keratan sulfate proteoglycan found predominantly in the adult vertebrate eye. In human beings, mutations in keratocan (KERA) are associated with autosomal recessive cornea plana (CNA2), which is characterized by a flattened forward convex curvature of the cornea. Here, we report a novel mutation in a case of autosomal recessive bilateral cornea plana presenting with primary angle-closure glaucoma in a 41-year-old woman from Eastern India. METHODS: The KERA gene of the patient and her sons was directly sequenced. RESULTS: Mutational analysis of the KERA revealed 2 novel mutations. The first mutation was a 3 base-pair deletion (c.371_373delTCT), leading to the loss of a highly conserved amino acid (p.Phe125del). The second mutation was a base substitution resulting in a silent mutation (c.69G>A). One of her 2 sons carried the homozygous substitution (c.69G>A), whereas the other son was heterozygous (c.69G>R). CONCLUSIONS: The mutation that we report here leads to the deletion of a conserved amino acid (p.Phe125del) from the third LRR motif of the keratocan protein, which might lead to an abnormal tertiary structure of the protein, thereby leading to the disease.
*School of Biological Sciences, National Institute of Science Education and Research, Institute of Physics Campus †Glaucoma Services, LV Prasad Eye Institute, Bhubaneswar, Odisha, India.
Full articleClassification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
2.2 Cornea (Part of: 2 Anatomical structures in glaucoma)
9.4.2.5 Other (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders > 9.4.2 Glaucomas associated with disorders of the cornea, conjunctiva, sclera)