Nanophthalmos and posterior microphthalmos are ocular abnormalities in which botheyes are abnormally small, and typically associated with extreme hyperopia. We rec-ruited 40 individuals from 13 kindreds with nanophthalmos or posteriormicrophthalmos, with 12 probands subjected to exome sequencing. Nine probands(69.2%) were assigned a genetic diagnosis, with variants inMYRF,TMEM98,MFRP,andPRSS56. Two of fourPRSS56families harbored the previously describedc.1066dupC variant implicated in over half of all reportedPRSS56kindreds, withdifferent surrounding haplotypes in each family suggesting a mutational hotspot. Indi-viduals with a genetic diagnosis had shorter mean axial lengths and higher hyperopiathan those without, with recessive forms associated with the most extreme pheno-types. These findings detail the genetic architecture of nanophthalmos and posteriormicrophthalmos in a cohort of predominantly European ancestry, their relative clinicalphenotypes, and highlight the shared genetic architecture of rare and common disor-ders of refractive error.
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. This author accepted manuscript is made available following 12 month embargo from date of publication (February 2020) in accordance with the publisher’s archiving policy
- Axial Length
- Posterier Microphthalmos
- axial length
- posterior microphthalmos