Etiology
Heyang M,
Warren JL,
Ocieczek P,
Duncan JL,
Moosajee M,
Del Priore LV,
Shen LL
Br J Ophthalmol
2025 Feb 24;109(3):383-390.
doi: 10.1136/bjo-2024-325323.
PMID: 39103200Free PMC Article
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
Shimokawa S,
Murakami Y,
Fujiwara K,
Funatsu J,
Nakatake S,
Koyanagi Y,
Akiyama M,
Yoshida N,
Takeda A,
Ikeda Y,
Sonoda KH
Retina
2022 Jan 1;42(1):168-173.
doi: 10.1097/IAE.0000000000003286.
PMID: 34393209
Diagnosis
Heyang M,
Warren JL,
Ocieczek P,
Duncan JL,
Moosajee M,
Del Priore LV,
Shen LL
Br J Ophthalmol
2025 Feb 24;109(3):383-390.
doi: 10.1136/bjo-2024-325323.
PMID: 39103200Free 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
Koffler T,
Ushakov K,
Avraham KB
Otolaryngol Clin North Am
2015 Dec;48(6):1041-61.
Epub 2015 Oct 9
doi: 10.1016/j.otc.2015.07.007.
PMID: 26443487Free PMC Article
Acton JH,
Greenstein VC
Can J Ophthalmol
2013 Oct;48(5):358-63.
Epub 2013 Sep 2
doi: 10.1016/j.jcjo.2013.03.021.
PMID: 24093180Free PMC Article
Therapy
Heyang M,
Warren JL,
Ocieczek P,
Duncan JL,
Moosajee M,
Del Priore LV,
Shen LL
Br J Ophthalmol
2025 Feb 24;109(3):383-390.
doi: 10.1136/bjo-2024-325323.
PMID: 39103200Free 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
Shimokawa S,
Murakami Y,
Fujiwara K,
Funatsu J,
Nakatake S,
Koyanagi Y,
Akiyama M,
Yoshida N,
Takeda A,
Ikeda Y,
Sonoda KH
Retina
2022 Jan 1;42(1):168-173.
doi: 10.1097/IAE.0000000000003286.
PMID: 34393209
Poulton J,
Deadman ME,
Ramacharan S,
Gardiner RM
Am J Hum Genet
1991 Apr;48(4):649-53.
PMID: 2014792Free PMC Article
Garcia CA
Ann N Y Acad Sci
1983;411:48-51.
doi: 10.1111/j.1749-6632.1983.tb47285.x.
PMID: 6349496
Prognosis
Hashem SA,
Georgiou M,
Wright G,
Fujinami-Yokokawa Y,
Laich Y,
Daich Varela M,
de Guimaraes TAC,
Mahroo OA,
Webster AR,
Fujinami K,
Michaelides M
Ophthalmol Retina
2025 Mar;9(3):278-287.
Epub 2024 Aug 31
doi: 10.1016/j.oret.2024.08.018.
PMID: 39218074
Heyang M,
Warren JL,
Ocieczek P,
Duncan JL,
Moosajee M,
Del Priore LV,
Shen LL
Br J Ophthalmol
2025 Feb 24;109(3):383-390.
doi: 10.1136/bjo-2024-325323.
PMID: 39103200Free PMC Article
Shimokawa S,
Murakami Y,
Fujiwara K,
Funatsu J,
Nakatake S,
Koyanagi Y,
Akiyama M,
Yoshida N,
Takeda A,
Ikeda Y,
Sonoda KH
Retina
2022 Jan 1;42(1):168-173.
doi: 10.1097/IAE.0000000000003286.
PMID: 34393209
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
Poulton J,
Deadman ME,
Ramacharan S,
Gardiner RM
Am J Hum Genet
1991 Apr;48(4):649-53.
PMID: 2014792Free PMC Article
Clinical prediction guides
Hashem SA,
Georgiou M,
Wright G,
Fujinami-Yokokawa Y,
Laich Y,
Daich Varela M,
de Guimaraes TAC,
Mahroo OA,
Webster AR,
Fujinami K,
Michaelides M
Ophthalmol Retina
2025 Mar;9(3):278-287.
Epub 2024 Aug 31
doi: 10.1016/j.oret.2024.08.018.
PMID: 39218074
Heyang M,
Warren JL,
Ocieczek P,
Duncan JL,
Moosajee M,
Del Priore LV,
Shen LL
Br J Ophthalmol
2025 Feb 24;109(3):383-390.
doi: 10.1136/bjo-2024-325323.
PMID: 39103200Free PMC Article
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