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
1965 1
2001 1
2004 1
2007 1
2013 2
2020 1
2022 2
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

11 results

Results by year

Filters applied: . Clear all
Page 1
Experiences of genetic testing among individuals with retinitis pigmentosa.
Krauss E, Macher J, Capasso J, Bernhardt B, Ali-KhanCatts Z, Levin A, Brandt R. Krauss E, et al. Ophthalmic Genet. 2022 Oct;43(5):633-640. doi: 10.1080/13816810.2022.2096243. Epub 2022 Jul 7. Ophthalmic Genet. 2022. PMID: 35796432
BACKGROUND: Retinitis pigmentosa (RP) is a genetically heterogeneous retinal dystrophy which results in progressive vision loss. ...Reported motivations for genetic testing included qualification for clinical trials (58% of total participants), determination …
BACKGROUND: Retinitis pigmentosa (RP) is a genetically heterogeneous retinal dystrophy which results in progressive vision los …
Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J. Dąbkowska S, et al. Prenat Diagn. 2020 Apr;40(5):612-617. doi: 10.1002/pd.5654. Epub 2020 Feb 12. Prenat Diagn. 2020. PMID: 32003477 Review.
RESULTS: Twenty-one out of 36 fetuses were found to have additional structural anomalies (58.3%). In four fetuses, anomalies were consistent with limb-body wall complex, in five with Meckel-Gruber syndrome, and in one with amniotic band syndrome. ...
RESULTS: Twenty-one out of 36 fetuses were found to have additional structural anomalies (58.3%). In four fetuses, anomalies were con …
Clinical characteristics of comorbid retinal dystrophies and primary angle closure disease.
Parameswarappa DC, Doctor MB, Natarajan R, Rani PK, Garudadri C, Jalali S, Senthil S. Parameswarappa DC, et al. Int Ophthalmol. 2022 Oct;42(10):3137-3144. doi: 10.1007/s10792-022-02313-6. Epub 2022 May 18. Int Ophthalmol. 2022. PMID: 35585370
The most common retinal dystrophy associated with PACD was retinitis pigmentosa (RP) followed by RP with retinoschisis. The hospital-based prevalence of PACD among all patients with RP and retinoschisis was 0.19% and 0.15% respectively. ...CONCLUSION: Retinitis …
The most common retinal dystrophy associated with PACD was retinitis pigmentosa (RP) followed by RP with retinoschisis. The ho …
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ. Stephenson KAJ, et al. Invest Ophthalmol Vis Sci. 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. Invest Ophthalmol Vis Sci. 2023. PMID: 37466950 Free PMC article.
PURPOSE: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal degenerations (IRDs) representing 50% of deaf-blindness. All subtypes include retinitis pigmentosa, sensorineural hearing loss, and vestibular …
PURPOSE: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal degenerations (IR …
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa.
Kelbsch C, Kempf M, Jung R, Kortüm F, Reith M, Kuehlewein L, Kohl S, Strasser T, Peters T, Wilhelm H, Wilhelm B, Stingl K, Stingl K. Kelbsch C, et al. Invest Ophthalmol Vis Sci. 2023 Aug 1;64(11):18. doi: 10.1167/iovs.64.11.18. Invest Ophthalmol Vis Sci. 2023. PMID: 37578425 Free PMC article.
PURPOSE: Verifying whether specific genotypes causing retinitis pigmentosa (RP) show differences in the preservation of rod and cone function measured by chromatic pupil campimetry (CPC). ...Prolonged time dynamics for cones in RPE65 mutations suggest an impact on c …
PURPOSE: Verifying whether specific genotypes causing retinitis pigmentosa (RP) show differences in the preservation of rod an …
Psychosocial adjustment to visual loss in patients with retinitis pigmentosa.
Jangra D, Ganesh A, Thackray R, Austin L, Ulster A, Sutherland J, Levin AV. Jangra D, et al. Ophthalmic Genet. 2007 Mar;28(1):25-30. doi: 10.1080/13816810701201930. Ophthalmic Genet. 2007. PMID: 17454744
PURPOSE: To investigate psychosocial adjustment to visual loss in patients with retinitis pigmentosa (RP). DESIGN: Cross-sectional study. METHODS: Thirty-three legally blind patients with RP participated in the study. ...The total PAIS score was significantly elevat …
PURPOSE: To investigate psychosocial adjustment to visual loss in patients with retinitis pigmentosa (RP). DESIGN: Cross-secti …
A historical perspective on the early treatment of night blindness and the use of dubious and unproven treatment strategies for patients with retinitis pigmentosa.
Fishman GA. Fishman GA. Surv Ophthalmol. 2013 Nov-Dec;58(6):652-63. doi: 10.1016/j.survophthal.2013.04.002. Epub 2013 Aug 1. Surv Ophthalmol. 2013. PMID: 23911150
Retinitis pigmentosa (RP) is a form of inherited night blindness. Over decades, various dubious treatment strategies that lacked sufficient theoretically sound underpinnings were explored. ...
Retinitis pigmentosa (RP) is a form of inherited night blindness. Over decades, various dubious treatment strategies that lack …
Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.
Oh KT, Oh DM, Weleber RG, Stone EM, Parikh A, White J, Deboer-Shields KA, Streb L, Vallar C. Oh KT, et al. Br J Ophthalmol. 2004 Dec;88(12):1533-7. doi: 10.1136/bjo.2004.043653. Br J Ophthalmol. 2004. PMID: 15548806 Free PMC article.
AIM: To describe the clinical characteristics and disease course of a large family with retinitis pigmentosa (RP) from an Arg135Leu change in rhodopsin. METHODS: 29 patients in this family were evaluated. Goldmann visual fields were performed on 14 affected individu …
AIM: To describe the clinical characteristics and disease course of a large family with retinitis pigmentosa (RP) from an Arg1 …
11 results