Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

SJ Garnai, ML Brinkmeier, B Emery, TS Aleman… - PLoS …, 2019 - journals.plos.org
Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes
with relatively normal anatomy, a high hyperopic refractive error, and frequent association …

[HTML][HTML] Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF

OM Siggs, E Souzeau, J Breen, A Qassim, T Zhou… - Molecular …, 2019 - ncbi.nlm.nih.gov
Purpose Nanophthalmos is a rare subtype of microphthalmia associated with high
hyperopia and an increased risk of angle-closure glaucoma. We investigated the genetic …

[HTML][HTML] Mutations in a novel serine protease PRSS56 in families with nanophthalmos

A Orr, MP Dubé, JC Zenteno, H Jiang, G Asselin… - Molecular …, 2011 - ncbi.nlm.nih.gov
Purpose Nanophthalmos is a rare genetic ocular disorder in which the eyes of affected
individuals are abnormally small. Patients suffer from severe hyperopia as a result of their …

Detection of clinically relevant genetic variants in Chinese patients with nanophthalmos by trio-based whole-genome sequencing study

C Guo, Z Zhao, D Chen, S He, N Sun… - … & visual science, 2019 - iovs.arvojournals.org
Purpose: Nanophthalmos is a rare genetic disorder commonly characterized by a short axial
length (AL) and severe hyperopia. Mutations that have been identified through Mendelian …

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and …

B Almoallem, G Arno, J De Zaeytijd, H Verdin… - Scientific reports, 2020 - nature.com
This study aimed to genetically and clinically characterize a unique cohort of 25 individuals
from 21 unrelated families with autosomal recessive nanophthalmos (NNO) and posterior …

Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort

L Prasov, B Guan, E Ullah, SM Archer, BM Ayres… - Scientific reports, 2020 - nature.com
Nanophthalmos is a rare condition defined by a small, structurally normal eye with resultant
high hyperopia. While six genes have been implicated in this hereditary condition (MFRP …

Genotype–phenotype spectrum in isolated and syndromic nanophthalmos

E Lang, S Koller, D Atac, OA Pfäffli… - Acta …, 2021 - Wiley Online Library
Purpose To (i) describe a series of patients with isolated or syndromic nanophthalmos with
the underlying genetic causes, including novel pathogenic variants and their functional …

The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification

SH Cross, L Mckie, TW Hurd, S Riley, J Wills… - PLoS …, 2020 - journals.plos.org
The precise control of eye size is essential for normal vision. TMEM98 is a highly conserved
and widely expressed gene which appears to be involved in eye size regulation. Mutations …

[HTML][HTML] Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos

D Khorram, M Choi, BR Roos, EM Stone, T Kopel… - Molecular …, 2015 - ncbi.nlm.nih.gov
Purpose Autosomal dominant nanophthalmos is an inherited eye disorder characterized by
a structurally normal but smaller eye. Patients with nanophthalmos have high hyperopia (far …

Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12

MS Awadalla, KP Burdon, E Souzeau… - JAMA …, 2014 - jamanetwork.com
Importance Nanophthalmos is a congenital disorder characterized by small eyes, with the
main complications being severe hyperopia and angle-closure glaucoma. Objective To …