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Medicine (Baltimore) 2021 Mar;100(9):e24633

Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.

Rationale: Familial exudative vitreoretinopathy (FEVR) is an inherited disorder, which is mostly reported to be associated with the mutation of genes involved in the Wnt signaling pathway related to β-catenin. To the best of our knowledge, the involvement of Adams-Oliver syndrome (AOS) genes in FEVR patients have not been reported before.

Patient Concerns: Two patients with FEVR presented with microcephaly. Read More

J Clin Invest 2021 Mar;131(6)

Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.

Familial exudative vitreoretinopathy (FEVR) is a severe retinal vascular disease that causes blindness. FEVR has been linked to mutations in several genes associated with inactivation of the Norrin/β-catenin signaling pathway, but these account for only approximately 50% of cases. We report that mutations in α-catenin (CTNNA1) cause FEVR by overactivating the β-catenin pathway and disrupting cell adherens junctions. Read More

Ophthalmic Genet 2021 Apr 10;42(2):200-203. Epub 2020 Dec 10.

Department of Ophthalmology, California Pacific Medical Center, San Francisco, California, USA.

: To report novel mutations in the and , associated with familial exudative vitreoretinopathy (FEVR), and to correlate with clinical features of 7 FEVR patients.: In this retrospective case series, 7 patients who had undergone genetic panel testing and carried a diagnosis of FEVR were identified. Comprehensive ophthalmic examination and direct DNA sequencing of FEVR-associated genes were performed in all patients. Read More

J Ophthalmol 2020 20;2020:4212158. Epub 2020 Aug 20.

Department of Ophthalmology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Purpose: We have observed that some preterm infants whose fundus appears very similar to eyes with familial exudative vitreoretinopathy (FEVR) present with atypical retinopathy of prematurity (ROP). To establish a definitive diagnosis and explore the possible genetic mechanism of atypical ROP, we performed gene sequencing of these cases using next-generation sequencing technology.

Methods: A retrospective review of infants who presented with atypical ROP from October 2013 to February 2017 was performed. Read More

Prog Retin Eye Res 2020 Aug 26:100898. Epub 2020 Aug 26.

UCL Institute of Ophthalmology, University College London, UK; Moorfields Eye Hospital NHS Foundation Trust, London, UK; Department of Ophthalmology, Guy's & St Thomas' NHS Foundation Trust, London, UK; Section of Ophthalmology, King's College London, UK; Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK. Electronic address:

X-linked retinopathies represent a significant proportion of monogenic retinal disease. They include progressive and stationary conditions, with and without syndromic features. Many are X-linked recessive, but several exhibit a phenotype in female carriers, which can help establish diagnosis and yield insights into disease mechanisms. Read More