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Itsuka Matsushita, Hiroyuki Kondo, Shingo Ishibashi, Tsutomu Ogata, Sachiko Nishina, Noriyuki Azuma, Akihiko Tawara; Novel mutations in MFRP Gene in Japanese Patients with Microphthalmos. Invest. Ophthalmol. Vis. Sci. 2012;53(14):1544.
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© ARVO (1962-2015); The Authors (2016-present)
Mutations in the MFRP gene were identified in eleven families with three distinct microphthalmic disorders: nanophthalmos, posterior microphthalmos (PM), and microphthalmos with retinitis pigmentosa. We report the characteristics of Japanese patients with the microphthalmic disorders caused by mutations in the MFRP gene.
Five microphthalmic patients with high hyperopia underwent standard ophthalmological examinations. They were categorized into three distinct clinical types depending on the associated findings; microcornea with shallow anterior chamber and retinitis pigmentosa. The age of the patients ranged from 5- to 69-years. One patient was a man and four were women. Genetic screening was performed on the patients by direct sequencing of the MFRP gene.
Clinical examinations showed that two patients had nanophthaomos, two had PM, and one had microphthalmos with retinitis pigmentosa. Molecular analysis showed four novel mutations in the MFRP gene in three patients. One patient with nanophthalmos had a homozygous nonsense mutation (W443X). One with PM had compound heterozygous nonsense mutations (Q123X and W443X), and the other with PM had compound heterozygous missense mutations (L373P and P537S).
Our results indicate that nanophthalmos and PM are caused by mutations in the MFRP gene. Patients with both conditions shared nonsense mutations homozygously or compound heterozygously. There is no evidence of an association between the type of the mutations and the disease categories. In two patients without MFRP mutation, their conditions may have been caused by mutations in other genes.
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