The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood

D Jackson, M Moosajee - Annual Review of Genomics and …, 2023 - annualreviews.org
The axial length of the eye is critical for normal visual function by enabling light to precisely
focus on the retina. The mean axial length of the adult human eye is 23.5 mm, but the …

Glaucoma syndromes: insights into glaucoma genetics and pathogenesis from monogenic syndromic disorders

DA Balikov, A Jacobson, L Prasov - Genes, 2021 - mdpi.com
Monogenic syndromic disorders frequently feature ocular manifestations, one of which is
glaucoma. In many cases, glaucoma in children may go undetected, especially in those that …

Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation

S Koli, C Labelle-Dumais, Y Zhao, S Paylakhi… - PLoS …, 2021 - journals.plos.org
Precise regulation of ocular size is a critical determinant of normal visual acuity. Although it
is generally accepted that ocular growth relies on a cascade of signaling events transmitted …

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 …

The pathogenesis and treatment of complications in nanophthalmos

N Yang, S Jin, L Ma, J Liu, C Shan… - Journal of …, 2020 - Wiley Online Library
Microphthalmos is a type of developmental disorder ophthalmopathy, which can occur
isolated or combined with other ocular malformations and can occur secondary to a systemic …

Treatment of nanophthalmos cataracts: surgery and complications

MY He, JR Feng, L Zhang - Seminars in Ophthalmology, 2022 - Taylor & Francis
Purpose Cataract surgery in patients with nanophthalmos is complicated for
ophthalmologists to perform. Due to the unique ocular anatomy, there is a high incidence of …

A multiethnic genome-wide analysis of 19,420 individuals identifies novel loci associated with axial length and shared genetic influences with refractive error and …

C Jiang, RB Melles, J Yin, Q Fan, X Guo… - Frontiers in …, 2023 - frontiersin.org
Introduction: Long axial length (AL) is a risk factor for myopia. Although family studies
indicate that AL has an important genetic component with heritability estimates up to 0.94 …

Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse

MM Hassall, S Javadiyan, S Klebe, MS Awadalla… - Scientific reports, 2023 - nature.com
Nanophthalmos is characterised by shorter posterior and anterior segments of the eye, with
a predisposition towards high hyperopia and primary angle-closure glaucoma. Variants in …

Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients

J Ota, T Inooka, S Okado, N Maeda… - Ophthalmic …, 2023 - Taylor & Francis
Background Nanophthalmos (NNO) is a rare condition with significantly shorter axial length
than normal. Several genes are known to cause NNO, among them the MFRP and PRSS56 …

Clinical features of patients with mutations in genes for nanophthalmos

X Li, H Xiao, Y Su, X Xiao, S Li, S Lin, L Fang… - British Journal of …, 2024 - bjo.bmj.com
Background/Aims To distinguish the clinical feature of nanophthalmos (NNO) caused by
mutations in protease serine 56 (PRSS56), membrane-type frizzled-related protein (MFRP) …