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1988 1
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136 results

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Page 1
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ. Verbakel SK, et al. Prog Retin Eye Res. 2018 Sep;66:157-186. doi: 10.1016/j.preteyeres.2018.03.005. Epub 2018 Mar 27. Prog Retin Eye Res. 2018. PMID: 29597005 Free article. Review.
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. ...RP typically manifests with night blindness in adolescence, followed by concentric visual field loss, r …
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.
Cremers FPM, Lee W, Collin RWJ, Allikmets R. Cremers FPM, et al. Prog Retin Eye Res. 2020 Nov;79:100861. doi: 10.1016/j.preteyeres.2020.100861. Epub 2020 Apr 9. Prog Retin Eye Res. 2020. PMID: 32278709 Free PMC article. Review.
The ABCA4 protein (then called a "rim protein") was first identified in 1978 in the rims and incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and variants were identified as the cause of autosomal recessive Stargardt disease (STGD1). Over …
The ABCA4 protein (then called a "rim protein") was first identified in 1978 in the rims and incisures of rod photoreceptors. The cor …
Retinitis pigmentosa.
Hamel C. Hamel C. Orphanet J Rare Dis. 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. Orphanet J Rare Dis. 2006. PMID: 17032466 Free PMC article. Review.
Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which the first symptom is night blindness, followed by the progressive loss in the peripheral visual field in daylight, and eventually leading to …
Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which t …
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), CHM (choroideremia), RS1 (X-linked retinoschisis), NYX (complete congenital stationary night blindness (CSNB)), C …
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), R …
Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.
Georgiou M, Fujinami K, Michaelides M. Georgiou M, et al. Clin Exp Ophthalmol. 2021 Apr;49(3):270-288. doi: 10.1111/ceo.13917. Epub 2021 Mar 20. Clin Exp Ophthalmol. 2021. PMID: 33686777 Review.
The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: (1) macular dystrophies, (2) cone and cone-rod dystrophies, (3) cone dysfunction syndromes, (4) Le …
The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: …
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. Nassisi M, et al. Hum Mutat. 2021 Jun;42(6):641-666. doi: 10.1002/humu.24205. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33847019 Free PMC article. Review.
Cyclic nucleotide-gated channel beta1 (CNGB1) encodes the 240-kDa beta subunit of the rod photoreceptor cyclic nucleotide-gated ion channel. Disease-causing sequence variants in CNGB1 lead to autosomal recessive rod-cone dystrophy/retinitis pigmentosa …
Cyclic nucleotide-gated channel beta1 (CNGB1) encodes the 240-kDa beta subunit of the rod photoreceptor cyclic nucleotide-gated ion c …
Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR).
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:53-60. doi: 10.1007/978-3-319-95046-4_12. Adv Exp Med Biol. 2018. PMID: 30578485 Review.
A heterogenous group of diseases, progressive cone dystrophy usually begins in the mid-teenage years or later in life. ...Visual acuity deteriorates to 20/200 or even counting fingers. There is some association between X-linked cone-rod dystrophy
A heterogenous group of diseases, progressive cone dystrophy usually begins in the mid-teenage years or later in life. ...Visu …
An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.
Chiu W, Lin TY, Chang YC, Isahwan-Ahmad Mulyadi Lai H, Lin SC, Ma C, Yarmishyn AA, Lin SC, Chang KJ, Chou YB, Hsu CC, Lin TC, Chen SJ, Chien Y, Yang YP, Hwang DK. Chiu W, et al. Int J Mol Sci. 2021 Apr 26;22(9):4534. doi: 10.3390/ijms22094534. Int J Mol Sci. 2021. PMID: 33926102 Free PMC article. Review.
Inherited retinal dystrophies (IRDs) are a group of rare eye diseases caused by gene mutations that result in the degradation of cone and rod photoreceptors or the retinal pigment epithelium. ...
Inherited retinal dystrophies (IRDs) are a group of rare eye diseases caused by gene mutations that result in the degradation of c
Wide-Field Fundus Autofluorescence for Retinitis Pigmentosa and Cone/Cone-Rod Dystrophy.
Oishi A, Oishi M, Ogino K, Morooka S, Yoshimura N. Oishi A, et al. Adv Exp Med Biol. 2016;854:307-13. doi: 10.1007/978-3-319-17121-0_41. Adv Exp Med Biol. 2016. PMID: 26427426 Review.
Retinitis pigmentosa and cone/cone-rod dystrophy are inherited retinal diseases characterized by the progressive loss of rod and/or cone photoreceptors. ...With wide-field analysis, an association between abnormal FAF areas and visual fun …
Retinitis pigmentosa and cone/cone-rod dystrophy are inherited retinal diseases characterized by the progressive …
RPGRIP1 and cone-rod dystrophy in dogs.
Kuznetsova T, Zangerl B, Aguirre GD. Kuznetsova T, et al. Adv Exp Med Biol. 2012;723:321-8. doi: 10.1007/978-1-4614-0631-0_42. Adv Exp Med Biol. 2012. PMID: 22183349 Free PMC article. Review. No abstract available.
136 results