Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1998 1
2014 1
2015 2
2016 1
2018 1
2019 2
2021 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Exudative vitreoretinopathy 2, X-linked"
Page 1
Familial exudative vitreoretinopathy and related retinopathies.
Gilmour DF. Gilmour DF. Eye (Lond). 2015 Jan;29(1):1-14. doi: 10.1038/eye.2014.70. Epub 2014 Oct 17. Eye (Lond). 2015. PMID: 25323851 Free PMC article. Review.
Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. ...Expressivity may be asymmetric and is highly variable. Five genes have been identified that when mutated, cause FEVR; NDP (X-linked), FZD4 (auto …
Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder of retinal angiogenesis. ...Expressivity may be asymm …
Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease.
Liu J, Zhu J, Yang J, Zhang X, Zhang Q, Zhao P. Liu J, et al. Mol Genet Genomic Med. 2019 Jan;7(1):e00503. doi: 10.1002/mgg3.503. Epub 2018 Nov 25. Mol Genet Genomic Med. 2019. PMID: 30474316 Free PMC article.
BACKGROUND: Both familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) are hereditary retinal disorders which can cause severe visual impairment and blindness at a young age. ...The pregnancy progressed uneventfully to a normal outcome. Case 2: …
BACKGROUND: Both familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) are hereditary retinal disorders which ca …
Immediate Sequential Bilateral Pediatric Vitreoretinal Surgery: An International Multicenter Study.
Yonekawa Y, Wu WC, Kusaka S, Robinson J, Tsujioka D, Kang KB, Shapiro MJ, Padhi TR, Jain L, Sears JE, Kuriyan AE, Berrocal AM, Quiram PA, Gerber AE, Paul Chan RV, Jonas KE, Wong SC, Patel CK, Abbey AM, Spencer R, Blair MP, Chang EY, Papakostas TD, Vavvas DG, Sisk RA, Ferrone PJ, Henderson RH, Olsen KR, Hartnett ME, Chau FY, Mukai S, Murray TG, Thomas BJ, Meza PA, Drenser KA, Trese MT, Capone A Jr. Yonekawa Y, et al. Ophthalmology. 2016 Aug;123(8):1802-1808. doi: 10.1016/j.ophtha.2016.04.033. Epub 2016 May 22. Ophthalmology. 2016. PMID: 27221737 Free PMC article.
Nonexclusive indications for ISBVS were rapidly progressive disease (74.6%), systemic morbidity placing the child at high anesthesia risk (76.0%), and residence remote from surgery location (30.2%). The most common diagnoses were retinopathy of prematurity (ROP; 72.7% [P & …
Nonexclusive indications for ISBVS were rapidly progressive disease (74.6%), systemic morbidity placing the child at high anesthesia risk (7 …
Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.
Jia LY, Ma K. Jia LY, et al. BMC Ophthalmol. 2021 Feb 15;21(1):84. doi: 10.1186/s12886-021-01852-3. BMC Ophthalmol. 2021. PMID: 33588793 Free PMC article.
PURPOSE: This study aims to analyze the Norrie disease gene (NDP) variants in patients with familial exudative vitreoretinopathy (FEVR) and their clinical features. METHODS: Thirty-three Chinese patients (22 familial and 11 simplex) who were diagnosed as FEVR underw …
PURPOSE: This study aims to analyze the Norrie disease gene (NDP) variants in patients with familial exudative vitreoretinopathy …
PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY.
Flores Pimentel MA, De la Huerta I, Duncan JL, Slavotinek AM, Moore AT, de Alba Campomanes AG. Flores Pimentel MA, et al. Retin Cases Brief Rep. 2021 May 1;15(3):324-329. doi: 10.1097/ICB.0000000000000796. Retin Cases Brief Rep. 2021. PMID: 30074570
He was found to have bilateral retinal avascular periphery abnormalities and preretinal hemorrhages on the left eye. The patient received bilateral laser treatment at 2 months of age. He was found to be doing well at 16 months after treatment with adequate visual acuity an …
He was found to have bilateral retinal avascular periphery abnormalities and preretinal hemorrhages on the left eye. The patient received bi …
Outcomes of vitreoretinal surgery in patients with X-linked retinoschisis.
Rosenfeld PJ, Flynn HW Jr, McDonald HR, Rubsamen PE, Smiddy WE, Sipperley JO, Boniuk I, Packer AJ. Rosenfeld PJ, et al. Ophthalmic Surg Lasers. 1998 Mar;29(3):190-7. Ophthalmic Surg Lasers. 1998. PMID: 9547772
All the patients had a documented positive family history of X-linked retinoschisis, and all patients had bilateral macular disease. ...CONCLUSION: Vitreoretinal surgery is often helpful in stabilizing or improving visual function in patients with posterior segment …
All the patients had a documented positive family history of X-linked retinoschisis, and all patients had bilateral macular di …
Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.
Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q. Sun W, et al. Invest Ophthalmol Vis Sci. 2019 Jan 2;60(1):93-97. doi: 10.1167/iovs.18-25142. Invest Ophthalmol Vis Sci. 2019. PMID: 30640974
All four mutations, namely, c.999delC (p.Tyr333*), c.1104delT (p.His369Thrfs*2), c.1738_1742delinsACA (p.Leu580Thrfs*28), and c.1867C>T (p.Gln623*), were heterozygotes and considered to have a germline origin. ...
All four mutations, namely, c.999delC (p.Tyr333*), c.1104delT (p.His369Thrfs*2), c.1738_1742delinsACA (p.Leu580Thrfs*28), and c.1867C …
Surgical management of complications associated with X-linked retinoschisis.
Regillo CD, Tasman WS, Brown GC. Regillo CD, et al. Arch Ophthalmol. 1993 Aug;111(8):1080-6. doi: 10.1001/archopht.1993.01090080076021. Arch Ophthalmol. 1993. PMID: 8352691
OBJECTIVE: To evaluate the role of surgical intervention in cases with severe, vision-threatening complications of X-linked retinoschisis. DESIGN: A retrospective survey of consecutive patients with X-linked retinoschisis who underwent surgery at our i …
OBJECTIVE: To evaluate the role of surgical intervention in cases with severe, vision-threatening complications of X-linked re …
Frizzled-4 Variations Associated with Retinopathy and Intrauterine Growth Retardation: A Potential Marker for Prematurity and Retinopathy.
Dailey WA, Gryc W, Garg PG, Drenser KA. Dailey WA, et al. Ophthalmology. 2015 Sep;122(9):1917-23. doi: 10.1016/j.ophtha.2015.05.036. Epub 2015 Jun 26. Ophthalmology. 2015. PMID: 26119001
PARTICIPANTS: Patients referred to our practice for management of a variety of pediatric vitreoretinopathies were offered participation in an ophthalmic biobank (421 participants with vitreoretinopathies were included in this study). ...Retrospective genetic analysi …
PARTICIPANTS: Patients referred to our practice for management of a variety of pediatric vitreoretinopathies were offered participati …