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The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Almoallem B, Arno G, De Zaeytijd J, Verdin H, Balikova I, Casteels I, de Ravel T, Hull S, Suzani M, Destrée A, Peng M, Williams D, Ainsworth JR, Webster AR, Leroy BP, Moore AT, De Baere E. Almoallem B, et al. Among authors: ainsworth jr. Sci Rep. 2020 Jan 28;10(1):1289. doi: 10.1038/s41598-019-57338-2. Sci Rep. 2020. PMID: 31992737 Free PMC article.
Progressive cone dystrophy associated with mutation in CNGB3.
Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM. Michaelides M, et al. Among authors: ainsworth jr. Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82. doi: 10.1167/iovs.03-0898. Invest Ophthalmol Vis Sci. 2004. PMID: 15161866
A phenotypic variant of Knobloch syndrome.
Williams TA, Kirkby GR, Williams D, Ainsworth JR. Williams TA, et al. Among authors: ainsworth jr. Ophthalmic Genet. 2008 Jun;29(2):85-6. doi: 10.1080/13816810701850041. Ophthalmic Genet. 2008. PMID: 18484314
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER, Moore AT, Hunt DM. Johnson S, et al. Among authors: ainsworth jr. J Med Genet. 2004 Feb;41(2):e20. doi: 10.1136/jmg.2003.011437. J Med Genet. 2004. PMID: 14757870 Free PMC article. No abstract available.
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK. Bakrania P, et al. Among authors: ainsworth j. Br J Ophthalmol. 2007 Nov;91(11):1471-6. doi: 10.1136/bjo.2007.117929. Epub 2007 May 23. Br J Ophthalmol. 2007. PMID: 17522144 Free PMC article.
77 results