Etiology
Bharti K,
den Hollander AI,
Lakkaraju A,
Sinha D,
Williams DS,
Finnemann SC,
Bowes-Rickman C,
Malek G,
D'Amore PA
Exp Eye Res
2022 Sep;222:109170.
Epub 2022 Jul 11
doi: 10.1016/j.exer.2022.109170.
PMID: 35835183Free PMC Article
Soh Z,
Richards AJ,
McNinch A,
Alexander P,
Martin H,
Snead MP
Genes (Basel)
2022 Jun 18;13(6)
doi: 10.3390/genes13061089.
PMID: 35741851Free PMC Article
Spaide RF,
Gemmy Cheung CM,
Matsumoto H,
Kishi S,
Boon CJF,
van Dijk EHC,
Mauget-Faysse M,
Behar-Cohen F,
Hartnett ME,
Sivaprasad S,
Iida T,
Brown DM,
Chhablani J,
Maloca PM
Prog Retin Eye Res
2022 Jan;86:100973.
Epub 2021 May 21
doi: 10.1016/j.preteyeres.2021.100973.
PMID: 34029721
Agarwal R,
Nagpal R,
Todi V,
Sharma N
Surv Ophthalmol
2021 Jan-Feb;66(1):2-19.
Epub 2020 Oct 13
doi: 10.1016/j.survophthal.2020.10.004.
PMID: 33058926
Tsang SH,
Sharma T
Adv Exp Med Biol
2018;1085:201-203.
doi: 10.1007/978-3-319-95046-4_42.
PMID: 30578515
Diagnosis
Thomas MG,
Papageorgiou E,
Kuht HJ,
Gottlob I
Br J Ophthalmol
2022 May;106(5):593-599.
Epub 2020 Nov 4
doi: 10.1136/bjophthalmol-2020-316348.
PMID: 33148537
Chiang MF,
Quinn GE,
Fielder AR,
Ostmo SR,
Paul Chan RV,
Berrocal A,
Binenbaum G,
Blair M,
Peter Campbell J,
Capone A Jr,
Chen Y,
Dai S,
Ells A,
Fleck BW,
Good WV,
Elizabeth Hartnett M,
Holmstrom G,
Kusaka S,
Kychenthal A,
Lepore D,
Lorenz B,
Martinez-Castellanos MA,
Özdek Ş,
Ademola-Popoola D,
Reynolds JD,
Shah PK,
Shapiro M,
Stahl A,
Toth C,
Vinekar A,
Visser L,
Wallace DK,
Wu WC,
Zhao P,
Zin A
Ophthalmology
2021 Oct;128(10):e51-e68.
Epub 2021 Jul 8
doi: 10.1016/j.ophtha.2021.05.031.
PMID: 34247850
Agarwal R,
Nagpal R,
Todi V,
Sharma N
Surv Ophthalmol
2021 Jan-Feb;66(1):2-19.
Epub 2020 Oct 13
doi: 10.1016/j.survophthal.2020.10.004.
PMID: 33058926
Lima Cunha D,
Arno G,
Corton M,
Moosajee M
Genes (Basel)
2019 Dec 17;10(12)
doi: 10.3390/genes10121050.
PMID: 31861090Free PMC Article
Onwochei BC,
Simon JW,
Bateman JB,
Couture KC,
Mir E
Surv Ophthalmol
2000 Nov-Dec;45(3):175-94.
doi: 10.1016/s0039-6257(00)00151-x.
PMID: 11094243
Therapy
Shivanna M,
Anand M,
Chakrabarti S,
Khanna H
Curr Med Chem
2019;26(17):3120-3131.
doi: 10.2174/0929867325666180917102557.
PMID: 30221600Free PMC Article
Kotwal A,
Stan M
Horm Metab Res
2018 Dec;50(12):871-886.
Epub 2018 Oct 4
doi: 10.1055/a-0739-8134.
PMID: 30286486
Rotter A,
Samorano LP,
Rivitti-Machado MC,
Oliveira ZNP,
Gontijo B
An Bras Dermatol
2018 Jun;93(3):405-411.
doi: 10.1590/abd1806-4841.20187693.
PMID: 29924216Free PMC Article
Moutray T,
Evans JR,
Lois N,
Armstrong DJ,
Peto T,
Azuara-Blanco A
Cochrane Database Syst Rev
2018 Mar 15;3(3):CD012314.
doi: 10.1002/14651858.CD012314.pub2.
PMID: 29543992Free PMC Article
Kupersmith MJ,
Martin V,
Heller G,
Shah A,
Mitnick HJ
Neurology
2004 Mar 9;62(5):686-94.
doi: 10.1212/01.wnl.0000113748.53023.b7.
PMID: 15007115
Prognosis
Hiatt SM,
Trajkova S,
Sebastiano MR,
Partridge EC,
Abidi FE,
Anderson A,
Ansar M,
Antonarakis SE,
Azadi A,
Bachmann-Gagescu R,
Bartuli A,
Benech C,
Berkowitz JL,
Betti MJ,
Brusco A,
Cannon A,
Caron G,
Chen Y,
Cochran ME,
Coleman TF,
Crenshaw MM,
Cuisset L,
Curry CJ,
Darvish H,
Demirdas S,
Descartes M,
Douglas J,
Dyment DA,
Elloumi HZ,
Ermondi G,
Faoucher M,
Farrow EG,
Felker SA,
Fisher H,
Hurst ACE,
Joset P,
Kelly MA,
Kmoch S,
Leadem BR,
Lyons MJ,
Macchiaiolo M,
Magner M,
Mandrile G,
Mattioli F,
McEown M,
Meadows SK,
Medne L,
Meeks NJL,
Montgomery S,
Napier MP,
Natowicz M,
Newberry KM,
Niceta M,
Noskova L,
Nowak CB,
Noyes AG,
Osmond M,
Prijoles EJ,
Pugh J,
Pullano V,
Quélin C,
Rahimi-Aliabadi S,
Rauch A,
Redon S,
Reymond A,
Schwager CR,
Sellars EA,
Scheuerle AE,
Shukarova-Angelovska E,
Skraban C,
Stolerman E,
Sullivan BR,
Tartaglia M,
Thiffault I,
Uguen K,
Umaña LA,
van Bever Y,
van der Crabben SN,
van Slegtenhorst MA,
Waisfisz Q,
Washington C,
Rodan LH,
Myers RM,
Cooper GM
Am J Hum Genet
2023 Feb 2;110(2):215-227.
Epub 2022 Dec 30
doi: 10.1016/j.ajhg.2022.12.007.
PMID: 36586412Free PMC Article
Nisenbaum E,
Thielhelm TP,
Nourbakhsh A,
Yan D,
Blanton SH,
Shu Y,
Koehler KR,
El-Amraoui A,
Chen Z,
Lam BL,
Liu X
Ear Hear
2022 Jan/Feb;43(1):1-8.
doi: 10.1097/AUD.0000000000001066.
PMID: 34039936Free PMC Article
Thomas MG,
Papageorgiou E,
Kuht HJ,
Gottlob I
Br J Ophthalmol
2022 May;106(5):593-599.
Epub 2020 Nov 4
doi: 10.1136/bjophthalmol-2020-316348.
PMID: 33148537
Kashyap S,
Meel R,
Singh L,
Singh M
Semin Diagn Pathol
2016 May;33(3):141-7.
Epub 2016 Mar 10
doi: 10.1053/j.semdp.2015.10.005.
PMID: 26972224
Onwochei BC,
Simon JW,
Bateman JB,
Couture KC,
Mir E
Surv Ophthalmol
2000 Nov-Dec;45(3):175-94.
doi: 10.1016/s0039-6257(00)00151-x.
PMID: 11094243
Clinical prediction guides
Miroševič Š,
Khandelwal S,
Sušjan P,
Žakelj N,
Gosar D,
Forstnerič V,
Lainšček D,
Jerala R,
Osredkar D
Int J Mol Sci
2022 Oct 19;23(20)
doi: 10.3390/ijms232012564.
PMID: 36293418Free PMC Article
Tong J,
Phu J,
Alonso-Caneiro D,
Khuu SK,
Kalloniatis M
Transl Vis Sci Technol
2022 Apr 1;11(4):18.
doi: 10.1167/tvst.11.4.18.
PMID: 35438719Free PMC Article
McAnany JJ,
Persidina OS,
Park JC
Surv Ophthalmol
2022 May-Jun;67(3):712-722.
Epub 2021 Sep 4
doi: 10.1016/j.survophthal.2021.08.011.
PMID: 34487740Free PMC Article
Nisenbaum E,
Thielhelm TP,
Nourbakhsh A,
Yan D,
Blanton SH,
Shu Y,
Koehler KR,
El-Amraoui A,
Chen Z,
Lam BL,
Liu X
Ear Hear
2022 Jan/Feb;43(1):1-8.
doi: 10.1097/AUD.0000000000001066.
PMID: 34039936Free PMC Article
Thomas MG,
Papageorgiou E,
Kuht HJ,
Gottlob I
Br J Ophthalmol
2022 May;106(5):593-599.
Epub 2020 Nov 4
doi: 10.1136/bjophthalmol-2020-316348.
PMID: 33148537