A novel deep intronic COL2A1 mutation in a family with early‐onset high myopia/ocular‐only Stickler syndrome

2020 ◽  
Vol 40 (3) ◽  
pp. 281-288 ◽  
Author(s):  
Wenmin Sun ◽  
Xueshan Xiao ◽  
Shiqiang Li ◽  
Xiaoyun Jia ◽  
Qingjiong Zhang
Keyword(s):  
Early Onset ◽  
High Myopia ◽  
Stickler Syndrome ◽  
Col2a1 Mutation

scholarly journals Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Noémi Széll ◽  
Tamás Fehér ◽  
Zoltán Maróti ◽  
Tibor Kalmár ◽  
Dóra Latinovics ◽  
...  
Keyword(s):  
Middle Ages ◽  
Early Onset ◽  
Colour Vision ◽  
High Myopia ◽  
Field Testing ◽  
Cone Dystrophy ◽  
Ophthalmological Examination ◽  
Whole Exome ◽  
Caucasian Family ◽  
Cone System

Abstract Background Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects females only, with males being asymptomatic carriers. Previously, this disease has only been observed in Asian families and has not gone through detailed investigation concerning collateral symptoms or pathogenesis. Results We found a large Hungarian family displaying female-limited early-onset high myopia. Whole exome sequencing of two individuals identified a novel nonsense mutation (c.214C>T, p.Arg72*) in the ARR3 gene. We carried out basic ophthalmological testing for 18 family members, as well as detailed ophthalmological examination (intraocular pressure, axial length, fundus appearance, optical coherence tomography, visual field- testing) as well as colour vision- and electrophysiology tests (standard and multifocal electroretinography, pattern electroretinography and visual evoked potentials) for eight individuals. Ophthalmological examinations did not reveal any signs of cone dystrophy as opposed to animal models. Electrophysiology and colour vision tests similarly did not evidence a general cone system alteration, rather a central macular dysfunction affecting both the inner and outer (postreceptoral and receptoral) retinal structures in all patients with ARR3 mutation. Conclusions This is the first description of a Caucasian family displaying Myopia-26. We present two hypotheses that could potentially explain the pathomechanism of this disease.

scholarly journals Bilateral Sturge-Weber syndrome presenting with early onset convulsion and high myopia

2015 ◽  
Vol 8 (1) ◽  
pp. 78
Author(s):  
Sabyasachi Bandyopadhyay ◽  
Indrani Bhattacharjee ◽  
SanatKumar Ghosh ◽  
KanchanKumar Mondal
Keyword(s):  
Early Onset ◽  
High Myopia ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation

2011 ◽  
Vol 15 (3) ◽  
pp. 311-313 ◽  
Author(s):  
Christina Gerth-Kahlert ◽  
Salvatore Grisanti ◽  
Eike Berger ◽  
Rene Höhn ◽  
Gabriele Witt ◽  
...  
Keyword(s):  
Vitreous Hemorrhage ◽  
Stickler Syndrome ◽  
Col2a1 Mutation

scholarly journals COL2A1 Mutation (c.611G>C) Leads to Early-Onset Osteoarthritis in a Chinese Family

2021 ◽  
Vol Volume 14 ◽  
pp. 2569-2574
Author(s):  
Pengyu Li ◽  
Anran Wang ◽  
Jiangxia Li ◽  
Xi Li ◽  
Wenjie Sun ◽  
...  
Keyword(s):  
Early Onset ◽  
Chinese Family ◽  
Col2a1 Mutation

scholarly journals Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family

2021 ◽  
Author(s):  
Noémi Széll ◽  
Tamas Feher ◽  
Zoltán Maróti ◽  
Tibor Kalmár ◽  
Dóra Latinovics ◽  
...  
Keyword(s):  
Middle Ages ◽  
Early Onset ◽  
Colour Vision ◽  
High Myopia ◽  
Field Testing ◽  
Cone Dystrophy ◽  
Ophthalmological Examination ◽  
Whole Exome ◽  
Caucasian Family ◽  
Cone System

Abstract Background: Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects females only, with males being asymptomatic carriers. Previously, this disease has only been observed in Asian families and has not gone through detailed investigation concerning collateral symptoms or pathogenesis Results: We found a large Hungarian family displaying female-limited early-onset high myopia. Whole exome sequencing of two individuals identified a novel nonsense mutation (c.214C>T, p.Arg72*) in the ARR3 gene. We carried out basic ophthalmological testing for 18 family members, as well as detailed ophthalmological examination (intraocular pressure, axial length, fundus appearance, optical coherence tomography, visual field- testing) as well as colour vision- and electrophysiology tests (standard and multifocal electroretinography, pattern electroretinography and visual evoked potentials) for eight individuals. Ophthalmological examinations did not reveal any signs of cone dystrophy as opposed to animal models. Electrophysiology and colour vision tests similarly did not evidence a general cone system alteration, rather a central macular dysfunction affecting both the inner and outer (postreceptoral and receptoral) retinal structures in all patients with ARR3 mutation. Conclusions: This is the first description of a Caucasian family displaying Myopia-26. We present two hypotheses that could potentially explain the pathomechanism of this disease.

Mutation screening of 17 candidate genes in a cohort of 67 probands with early‐onset high myopia

2020 ◽  
Vol 40 (3) ◽  
pp. 271-280 ◽  
Author(s):  
Fang Liu ◽  
Junwen Wang ◽  
Yiqiao Xing ◽  
Tuo Li
Keyword(s):  
Candidate Genes ◽  
Early Onset ◽  
High Myopia ◽  
Mutation Screening

Cone-Rod Dysfunction Is a Sign of Early-Onset High Myopia

2013 ◽  
Vol 90 (11) ◽  
pp. 1327-1330 ◽  
Author(s):  
Panfeng Wang ◽  
Xueshan Xiao ◽  
Li Huang ◽  
Xiangming Guo ◽  
Qingjiong Zhang
Keyword(s):  
Early Onset ◽  
High Myopia
Sign in / Sign up

Export Citation Format

Share Document