Etiology
Saba TG,
Geddes GC,
Ware SM,
Schidlow DN,
Del Nido PJ,
Rubalcava NS,
Gadepalli SK,
Stillwell T,
Griffiths A,
Bennett Murphy LM,
Barber AT,
Leigh MW,
Sabin N,
Shapiro AJ
Orphanet J Rare Dis
2022 Sep 9;17(1):351.
doi: 10.1186/s13023-022-02515-2.
PMID: 36085154Free PMC Article
Ernst J,
Medsinge A,
Scanga HL,
Hiasat J,
Moore W,
Ali A,
Levin AV,
Stahl ED,
Nischal KK
J AAPOS
2022 Feb;26(1):4.e1-4.e5.
Epub 2022 Jan 17
doi: 10.1016/j.jaapos.2021.09.008.
PMID: 35051625
Arora S,
Surakiatchanukul T,
Arora T,
Cagini C,
Lupidi M,
Chhablani J
Surv Ophthalmol
2022 Mar-Apr;67(2):463-487.
Epub 2021 Jun 25
doi: 10.1016/j.survophthal.2021.06.004.
PMID: 34175342
Laver NV,
McLaughlin ME,
Duker JS
Arch Pathol Lab Med
2010 Dec;134(12):1778-84.
doi: 10.5858/2009-0441-RAR.1.
PMID: 21128775
Tarkkanen AH
Trans Ophthalmol Soc U K (1962)
1986;105 ( Pt 2):233-6.
PMID: 3492068
Diagnosis
Yates WB,
McCluskey PJ,
Fraser CL
J Neuroimmunol
2022 Jun 15;367:577851.
Epub 2022 Mar 26
doi: 10.1016/j.jneuroim.2022.577851.
PMID: 35405430
Ernst J,
Medsinge A,
Scanga HL,
Hiasat J,
Moore W,
Ali A,
Levin AV,
Stahl ED,
Nischal KK
J AAPOS
2022 Feb;26(1):4.e1-4.e5.
Epub 2022 Jan 17
doi: 10.1016/j.jaapos.2021.09.008.
PMID: 35051625
Finsterer J,
Zarrouk-Mahjoub S,
Daruich A
J Child Neurol
2016 Apr;31(5):652-62.
Epub 2015 Aug 14
doi: 10.1177/0883073815599263.
PMID: 26275973
Stefan C,
Iliescu DA,
Batras M,
Timaru CM,
De Simone A
Rom J Ophthalmol
2015 Jan-Mar;59(1):14-8.
PMID: 27373109Free PMC Article
Laver NV,
McLaughlin ME,
Duker JS
Arch Pathol Lab Med
2010 Dec;134(12):1778-84.
doi: 10.5858/2009-0441-RAR.1.
PMID: 21128775
Therapy
Nenninger A,
Ben-Shlomo G,
Allbaugh R,
Valentine B,
Snella E,
Jens J,
Ellinwood NM,
Smith J
J Inherit Metab Dis
2023 Mar;46(2):348-357.
Epub 2023 Jan 16
doi: 10.1002/jimd.12587.
PMID: 36601751
Arora S,
Surakiatchanukul T,
Arora T,
Cagini C,
Lupidi M,
Chhablani J
Surv Ophthalmol
2022 Mar-Apr;67(2):463-487.
Epub 2021 Jun 25
doi: 10.1016/j.survophthal.2021.06.004.
PMID: 34175342
Kaplowitz K,
Yung E,
Flynn R,
Tsai JC
Surv Ophthalmol
2015 May-Jun;60(3):229-41.
Epub 2014 Dec 27
doi: 10.1016/j.survophthal.2014.12.004.
PMID: 25639795
Sutherland MJ,
Ware SM
Am J Med Genet C Semin Med Genet
2009 Nov 15;151C(4):307-17.
doi: 10.1002/ajmg.c.30228.
PMID: 19876930
Afzelius BA
Am J Hum Genet
1981 Nov;33(6):852-64.
PMID: 7034533Free PMC Article
Prognosis
Ernst J,
Medsinge A,
Scanga HL,
Hiasat J,
Moore W,
Ali A,
Levin AV,
Stahl ED,
Nischal KK
J AAPOS
2022 Feb;26(1):4.e1-4.e5.
Epub 2022 Jan 17
doi: 10.1016/j.jaapos.2021.09.008.
PMID: 35051625
Dąbkowska S,
Kucińska-Chahwan A,
Beneturska A,
Ilnicka A,
Nowakowska B,
Panek G,
Roszkowski T,
Bijok J
Prenat Diagn
2020 Apr;40(5):612-617.
Epub 2020 Feb 12
doi: 10.1002/pd.5654.
PMID: 32003477
Kaplowitz K,
Yung E,
Flynn R,
Tsai JC
Surv Ophthalmol
2015 May-Jun;60(3):229-41.
Epub 2014 Dec 27
doi: 10.1016/j.survophthal.2014.12.004.
PMID: 25639795
Laver NV,
McLaughlin ME,
Duker JS
Arch Pathol Lab Med
2010 Dec;134(12):1778-84.
doi: 10.5858/2009-0441-RAR.1.
PMID: 21128775
Hagiwara H,
Ohwada N,
Aoki T,
Takata K
Med Electron Microsc
2000;33(3):109-14.
doi: 10.1007/s007950000009.
PMID: 11810467
Clinical prediction guides
Kinghorn B,
Rosenfeld M,
Sullivan E,
Onchiri F,
Ferkol TW,
Sagel SD,
Dell SD,
Milla C,
Shapiro AJ,
Sullivan KM,
Zariwala MA,
Pittman JE,
Mollica F,
Tiddens HAWM,
Kemner-van de Corput M,
Knowles MR,
Davis SD,
Leigh MW
Ann Am Thorac Soc
2023 Apr;20(4):539-547.
doi: 10.1513/AnnalsATS.202206-524OC.
PMID: 36442147Free PMC Article
Arora S,
Surakiatchanukul T,
Arora T,
Cagini C,
Lupidi M,
Chhablani J
Surv Ophthalmol
2022 Mar-Apr;67(2):463-487.
Epub 2021 Jun 25
doi: 10.1016/j.survophthal.2021.06.004.
PMID: 34175342
Li CQ,
Cho AA,
Edward NJ,
Edward DP,
Fajardo RG,
Mafee MF
Neuroradiology
2015 Aug;57(8):825-32.
Epub 2015 Apr 24
doi: 10.1007/s00234-015-1531-7.
PMID: 25903430
Huber C,
Cormier-Daire V
Am J Med Genet C Semin Med Genet
2012 Aug 15;160C(3):165-74.
Epub 2012 Jul 12
doi: 10.1002/ajmg.c.31336.
PMID: 22791528
Shiba D,
Yokoyama T
Differentiation
2012 Feb;83(2):S91-6.
Epub 2011 Dec 12
doi: 10.1016/j.diff.2011.11.006.
PMID: 22169048