Abstract
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.
Original language | English |
---|---|
Pages (from-to) | 764-769 |
Number of pages | 6 |
Journal | Clinical Genetics |
Volume | 97 |
Issue number | 5 |
Early online date | Feb 2020 |
DOIs | |
Publication status | Published - May 2020 |
Keywords
- Axial Length
- MRFP
- Microphthalmia
- MYRF
- Nanophthalmos
- Posterier Microphthalmos
- PRSS56
- TMEM98
- microphthalmia
- axial length
- posterior microphthalmos
- MFRP
- nanophthalmos