129 related articles for article (PubMed ID: 32150116)
1. NMNAT1-ASSOCIATED CONE-ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT.
Bedoukian EC; Zhu X; Serrano LW; Scoles D; Aleman TS
Retin Cases Brief Rep; 2022 May; 16(3):385-392. PubMed ID: 32150116
[TBL] [Abstract][Full Text] [Related]
2. Bardet-Biedl syndrome-7 (
Aleman TS; O'Neil EC; O'Connor K; Jiang YY; Aleman IA; Bennett J; Morgan JIW; Toussaint BW
Ophthalmic Genet; 2021 Jun; 42(3):252-265. PubMed ID: 33729075
[No Abstract] [Full Text] [Related]
3. A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM.
Kumaran N; Robson AG; Michaelides M
Retin Cases Brief Rep; 2021 Mar; 15(2):139-144. PubMed ID: 30004997
[TBL] [Abstract][Full Text] [Related]
4. RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.
Aleman TS; Uyhazi KE; Serrano LW; Vasireddy V; Bowman SJ; Ammar MJ; Pearson DJ; Maguire AM; Bennett J
Invest Ophthalmol Vis Sci; 2018 Oct; 59(12):5225-5236. PubMed ID: 30372751
[TBL] [Abstract][Full Text] [Related]
5. ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
De Zaeytijd J; Van Cauwenbergh C; De Bruyne M; Van Heetvelde M; De Baere E; Coppieters F; Leroy BP
Retina; 2021 Jun; 41(6):1346-1355. PubMed ID: 34001834
[TBL] [Abstract][Full Text] [Related]
6. Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography.
Cho SC; Woo SJ; Park KH; Hwang JM
Korean J Ophthalmol; 2013 Feb; 27(1):19-27. PubMed ID: 23372375
[TBL] [Abstract][Full Text] [Related]
7. NPHP1 FULL DELETION CAUSES NEPHRONOPHTHISIS AND A CONE-ROD DYSTROPHY.
Tauqeer Z; O'Neil EC; Brucker AJ; Aleman TS
Retin Cases Brief Rep; 2023 Jul; 17(4):352-358. PubMed ID: 36913617
[TBL] [Abstract][Full Text] [Related]
8. DANON DISEASE: A MODEL OF PHOTORECEPTOR DEGENERATION SECONDARY TO PRIMARY RETINAL PIGMENT EPITHELIUM DISEASE.
O'Neil EC; Uyhazi KE; O'Connor K; Aleman IA; Pulido JS; Rossano JW; Aleman TS
Retin Cases Brief Rep; 2022 Nov; 16(6):707-713. PubMed ID: 36288619
[TBL] [Abstract][Full Text] [Related]
9. Acute Zonal Cone Photoreceptor Outer Segment Loss.
Aleman TS; Sandhu HS; Serrano LW; Traband A; Lau MK; Adamus G; Avery RA
JAMA Ophthalmol; 2017 May; 135(5):487-490. PubMed ID: 28384671
[TBL] [Abstract][Full Text] [Related]
10.
Bedoukian EC; O'Neil EC; Aleman TS
Ophthalmic Genet; 2022 Aug; 43(4):555-560. PubMed ID: 35484846
[TBL] [Abstract][Full Text] [Related]
11. Two cases of unilateral cone-rod dysfunction with negative electroretinograms.
Ozawa K; Takahashi S; Mochizuki K; Miyake Y
Doc Ophthalmol; 2019 Dec; 139(3):247-256. PubMed ID: 31375969
[TBL] [Abstract][Full Text] [Related]
12. Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.
Fuerst NM; Serrano L; Han G; Morgan JI; Maguire AM; Leroy BP; Kim BJ; Aleman TS
Ophthalmic Genet; 2016 Dec; 37(4):445-452. PubMed ID: 27028354
[TBL] [Abstract][Full Text] [Related]
13. Case Report: Multimodal Imaging Features of an ABCA4 Cone Dystrophy.
Monferrer-Adsuara C; Montero-Hernández J; Castro-Navarro V; Remolí-Sargues L; Cervera-Taulet E
Optom Vis Sci; 2022 Feb; 99(2):195-201. PubMed ID: 34897229
[TBL] [Abstract][Full Text] [Related]
14. Foveal cavitation as an optical coherence tomography finding in central cone dysfunction.
Leng T; Marmor MF; Kellner U; Thompson DA; Renner AB; Moore W; Sowden JC
Retina; 2012 Jul; 32(7):1411-9. PubMed ID: 22466470
[TBL] [Abstract][Full Text] [Related]
15. SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.
Matsui R; McGuigan Iii DB; Gruzensky ML; Aleman TS; Schwartz SB; Sumaroka A; Koenekoop RK; Cideciyan AV; Jacobson SG
Ophthalmic Genet; 2016 Sep; 37(3):333-8. PubMed ID: 26854980
[TBL] [Abstract][Full Text] [Related]
16. A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY.
Meunier I; Bocquet B; Charif M; Dhaenens CM; Manes G; Amati-Bonneau P; Roubertie A; Zanlonghi X; Lenaers G
Retina; 2021 Aug; 41(8):1771-1779. PubMed ID: 33315831
[TBL] [Abstract][Full Text] [Related]
17. A rare case of
Mermeklieva E; Kamenarova K; Mihova K; Shakola F; Kaneva R
Ophthalmic Genet; 2021 Dec; 42(6):747-752. PubMed ID: 34229535
[TBL] [Abstract][Full Text] [Related]
18. Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
Nasser F; Weisschuh N; Maffei P; Milan G; Heller C; Zrenner E; Kohl S; Kuehlewein L
Acta Ophthalmol; 2018 Jun; 96(4):e445-e454. PubMed ID: 29193673
[TBL] [Abstract][Full Text] [Related]
19. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
Jacobson SG; Cideciyan AV; Aleman TS; Sumaroka A; Roman AJ; Swider M; Schwartz SB; Banin E; Stone EM
Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):70-9. PubMed ID: 20702822
[TBL] [Abstract][Full Text] [Related]
20. Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Hedergott A; Volk AE; Herkenrath P; Thiele H; Fricke J; Altmüller J; Nürnberg P; Kubisch C; Neugebauer A
Graefes Arch Clin Exp Ophthalmol; 2015 Dec; 253(12):2239-46. PubMed ID: 26464178
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
