Etiology
Rodriguez-Martinez AC,
Higgins BE,
Tailor-Hamblin V,
Malka S,
Cheloni R,
Collins AM,
Bladen J,
Henderson R,
Moosajee M
Int J Mol Sci
2023 Sep 11;24(18)
doi: 10.3390/ijms241813932.
PMID: 37762234Free PMC Article
Ma J,
Ma X,
Lin K,
Huang R,
Bi X,
Ming C,
Li L,
Li X,
Li G,
Zhao L,
Yang T,
Gao Y,
Zhang T
Hum Genomics
2023 Jan 4;17(1):1.
doi: 10.1186/s40246-022-00449-1.
PMID: 36597107Free PMC Article
Haqq AM,
Chung WK,
Dollfus H,
Haws RM,
Martos-Moreno GÁ,
Poitou C,
Yanovski JA,
Mittleman RS,
Yuan G,
Forsythe E,
Clément K,
Argente J
Lancet Diabetes Endocrinol
2022 Dec;10(12):859-868.
Epub 2022 Nov 7
doi: 10.1016/S2213-8587(22)00277-7.
PMID: 36356613Free PMC Article
Kuehlewein L,
Zobor D,
Stingl K,
Kempf M,
Nasser F,
Bernd A,
Biskup S,
Cremers FPM,
Khan MI,
Mazzola P,
Schäferhoff K,
Heinrich T,
Haack TB,
Wissinger B,
Zrenner E,
Weisschuh N,
Kohl S
Int J Mol Sci
2021 Feb 27;22(5)
doi: 10.3390/ijms22052374.
PMID: 33673512Free PMC Article
Karali M,
Testa F,
Brunetti-Pierri R,
Di Iorio V,
Pizzo M,
Melillo P,
Barillari MR,
Torella A,
Musacchia F,
D'Angelo L,
Banfi S,
Simonelli F
Int J Mol Sci
2019 Dec 20;21(1)
doi: 10.3390/ijms21010086.
PMID: 31877679Free PMC Article
Diagnosis
Ma J,
Ma X,
Lin K,
Huang R,
Bi X,
Ming C,
Li L,
Li X,
Li G,
Zhao L,
Yang T,
Gao Y,
Zhang T
Hum Genomics
2023 Jan 4;17(1):1.
doi: 10.1186/s40246-022-00449-1.
PMID: 36597107Free PMC Article
Haqq AM,
Chung WK,
Dollfus H,
Haws RM,
Martos-Moreno GÁ,
Poitou C,
Yanovski JA,
Mittleman RS,
Yuan G,
Forsythe E,
Clément K,
Argente J
Lancet Diabetes Endocrinol
2022 Dec;10(12):859-868.
Epub 2022 Nov 7
doi: 10.1016/S2213-8587(22)00277-7.
PMID: 36356613Free PMC Article
Garg A,
Margolin E,
Micieli JA
J Neuroophthalmol
2022 Mar 1;42(1):e225-e229.
Epub 2021 Jul 27
doi: 10.1097/WNO.0000000000001340.
PMID: 34334760
Gao F,
Wang J,
Chen J,
Wang X,
Chen Y,
Sun X
Graefes Arch Clin Exp Ophthalmol
2021 Aug;259(8):2379-2387.
Epub 2021 Apr 19
doi: 10.1007/s00417-021-05172-6.
PMID: 33876278Free PMC Article
Ge Z,
Bowles K,
Goetz K,
Scholl HP,
Wang F,
Wang X,
Xu S,
Wang K,
Wang H,
Chen R
Sci Rep
2015 Dec 15;5:18287.
doi: 10.1038/srep18287.
PMID: 26667666Free PMC Article
Therapy
Haqq AM,
Chung WK,
Dollfus H,
Haws RM,
Martos-Moreno GÁ,
Poitou C,
Yanovski JA,
Mittleman RS,
Yuan G,
Forsythe E,
Clément K,
Argente J
Lancet Diabetes Endocrinol
2022 Dec;10(12):859-868.
Epub 2022 Nov 7
doi: 10.1016/S2213-8587(22)00277-7.
PMID: 36356613Free PMC Article
Huang H,
Wang J,
Li H,
Lei R,
Zou W,
Huang Q,
Gao N,
Zheng Y
BMJ Open
2021 Nov 12;11(11):e049245.
doi: 10.1136/bmjopen-2021-049245.
PMID: 34772749Free PMC Article
Kuehlewein L,
Zobor D,
Andreasson SO,
Ayuso C,
Banfi S,
Bocquet B,
Bernd AS,
Biskup S,
Boon CJF,
Downes SM,
Fischer MD,
Holz FG,
Kellner U,
Leroy BP,
Meunier I,
Nasser F,
Rosenberg T,
Rudolph G,
Stingl K,
Thiadens AAHJ,
Wilhelm B,
Wissinger B,
Zrenner E,
Kohl S,
Weisschuh N;
RD-CURE Consortium
JAMA Ophthalmol
2020 Dec 1;138(12):1241-1250.
doi: 10.1001/jamaophthalmol.2020.4206.
PMID: 33057649Free PMC Article
Zong Y,
Lin L,
Yi C,
Huang X,
Fu Y,
Dong Y,
Qian X,
Li Y,
Gao Q
Graefes Arch Clin Exp Ophthalmol
2016 Feb;254(2):243-52.
Epub 2015 May 8
doi: 10.1007/s00417-015-3039-6.
PMID: 25952041
Guadagni V,
Novelli E,
Piano I,
Gargini C,
Strettoi E
Prog Retin Eye Res
2015 Sep;48:62-81.
Epub 2015 Jun 22
doi: 10.1016/j.preteyeres.2015.06.005.
PMID: 26113212
Prognosis
Sen P,
Srikrupa N,
Maitra P,
Srilekha S,
Porkodi P,
Gnanasekaran H,
Bhende M,
Khetan V,
Mathavan S,
Bhende P,
Ratra D,
Raman R,
Rao C,
Sripriya S
Indian J Ophthalmol
2023 Jun;71(6):2512-2520.
doi: 10.4103/IJO.IJO_2579_22.
PMID: 37322672Free PMC Article
Kuehlewein L,
Zobor D,
Andreasson SO,
Ayuso C,
Banfi S,
Bocquet B,
Bernd AS,
Biskup S,
Boon CJF,
Downes SM,
Fischer MD,
Holz FG,
Kellner U,
Leroy BP,
Meunier I,
Nasser F,
Rosenberg T,
Rudolph G,
Stingl K,
Thiadens AAHJ,
Wilhelm B,
Wissinger B,
Zrenner E,
Kohl S,
Weisschuh N;
RD-CURE Consortium
JAMA Ophthalmol
2020 Dec 1;138(12):1241-1250.
doi: 10.1001/jamaophthalmol.2020.4206.
PMID: 33057649Free PMC Article
Albarry MA,
Hashmi JA,
Alreheli AQ,
Albalawi AM,
Khan B,
Ramzan K,
Basit S
Ophthalmic Genet
2019 Dec;40(6):507-513.
Epub 2019 Dec 13
doi: 10.1080/13816810.2019.1703014.
PMID: 31833436
Chaumet-Riffaud AE,
Chaumet-Riffaud P,
Cariou A,
Devisme C,
Audo I,
Sahel JA,
Mohand-Said S
Am J Ophthalmol
2017 May;177:169-174.
Epub 2017 Feb 22
doi: 10.1016/j.ajo.2017.02.016.
PMID: 28237413
Roberts PA,
Gaffney EA,
Luthert PJ,
Foss AJE,
Byrne HM
Prog Retin Eye Res
2016 Jul;53:48-69.
Epub 2016 Apr 7
doi: 10.1016/j.preteyeres.2016.04.001.
PMID: 27063291
Clinical prediction guides
Rodriguez-Martinez AC,
Higgins BE,
Tailor-Hamblin V,
Malka S,
Cheloni R,
Collins AM,
Bladen J,
Henderson R,
Moosajee M
Int J Mol Sci
2023 Sep 11;24(18)
doi: 10.3390/ijms241813932.
PMID: 37762234Free PMC Article
Ma J,
Ma X,
Lin K,
Huang R,
Bi X,
Ming C,
Li L,
Li X,
Li G,
Zhao L,
Yang T,
Gao Y,
Zhang T
Hum Genomics
2023 Jan 4;17(1):1.
doi: 10.1186/s40246-022-00449-1.
PMID: 36597107Free PMC Article
Kuehlewein L,
Zobor D,
Stingl K,
Kempf M,
Nasser F,
Bernd A,
Biskup S,
Cremers FPM,
Khan MI,
Mazzola P,
Schäferhoff K,
Heinrich T,
Haack TB,
Wissinger B,
Zrenner E,
Weisschuh N,
Kohl S
Int J Mol Sci
2021 Feb 27;22(5)
doi: 10.3390/ijms22052374.
PMID: 33673512Free PMC Article
Karali M,
Testa F,
Brunetti-Pierri R,
Di Iorio V,
Pizzo M,
Melillo P,
Barillari MR,
Torella A,
Musacchia F,
D'Angelo L,
Banfi S,
Simonelli F
Int J Mol Sci
2019 Dec 20;21(1)
doi: 10.3390/ijms21010086.
PMID: 31877679Free PMC Article
Roberts PA,
Gaffney EA,
Luthert PJ,
Foss AJE,
Byrne HM
Prog Retin Eye Res
2016 Jul;53:48-69.
Epub 2016 Apr 7
doi: 10.1016/j.preteyeres.2016.04.001.
PMID: 27063291