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Comment & Response |

Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?—Reply

Mona S. Awadalla, MBBS, PhD1; Kathryn P. Burdon, PhD2; Jamie E. Craig, MBBS, DPhil, FRANZCO1
[+] Author Affiliations
1Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia
2Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia
JAMA Ophthalmol. 2015;133(3):359-360. doi:10.1001/jamaophthalmol.2014.4919.
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In Reply We agree with Sun and Zhang that the association of TMEM98 with nanophthalmos1 requires further confirmation, ideally by identifying additional pathogenic mutations in families who have nanophthalmos with a similar phenotype combined with molecular evidence of gene dysfunction. However, the identification of variants in individuals with different phenotypes as reported in the letter by Sun and Zhang in no way discounts TMEM98 as the likely cause of nanophthalmos in the reported family. Sequencing this gene in a large number of patients with phenotypes similar to the reported family would be a more useful strategy to determine its contribution to nanophthalmos and related phenotypes.

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March 1, 2015
Wenmin Sun, MD, PhD; Qingjiong Zhang, MD, PhD
1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China
JAMA Ophthalmol. 2015;133(3):358-359. doi:10.1001/jamaophthalmol.2014.4915.
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