Etiology
Karaconji T,
Zagora S,
Grigg JR
Clin Exp Ophthalmol
2022 Mar;50(2):232-246.
Epub 2022 Jan 25
doi: 10.1111/ceo.14039.
PMID: 35023613
Olsen GM,
Nackers A,
Drolet BA
Semin Pediatr Surg
2020 Oct;29(5):150969.
Epub 2020 Sep 16
doi: 10.1016/j.sempedsurg.2020.150969.
PMID: 33069287
Seifi M,
Walter MA
Clin Genet
2018 Jun;93(6):1123-1130.
Epub 2018 Jan 25
doi: 10.1111/cge.13148.
PMID: 28972279
Garzon MC,
Epstein LG,
Heyer GL,
Frommelt PC,
Orbach DB,
Baylis AL,
Blei F,
Burrows PE,
Chamlin SL,
Chun RH,
Hess CP,
Joachim S,
Johnson K,
Kim W,
Liang MG,
Maheshwari M,
McCoy GN,
Metry DW,
Monrad PA,
Pope E,
Powell J,
Shwayder TA,
Siegel DH,
Tollefson MM,
Vadivelu S,
Lew SM,
Frieden IJ,
Drolet BA
J Pediatr
2016 Nov;178:24-33.e2.
Epub 2016 Sep 19
doi: 10.1016/j.jpeds.2016.07.054.
PMID: 27659028Free PMC Article
Bachmann-Gagescu R,
Dempsey JC,
Phelps IG,
O'Roak BJ,
Knutzen DM,
Rue TC,
Ishak GE,
Isabella CR,
Gorden N,
Adkins J,
Boyle EA,
de Lacy N,
O'Day D,
Alswaid A,
Ramadevi A R,
Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
Tuysuz B,
Topçu M;
University of Washington Center for Mendelian Genomics,
Chance P,
Parisi MA,
Glass IA,
Shendure J,
Doherty D
J Med Genet
2015 Aug;52(8):514-22.
Epub 2015 Jun 19
doi: 10.1136/jmedgenet-2015-103087.
PMID: 26092869Free PMC Article
Diagnosis
Reis LM,
Maheshwari M,
Capasso J,
Atilla H,
Dudakova L,
Thompson S,
Zitano L,
Lay-Son G,
Lowry RB,
Black J,
Lee J,
Shue A,
Kremlikova Pourova R,
Vaneckova M,
Skalicka P,
Jedlickova J,
Trkova M,
Williams B,
Richard G,
Bachman K,
Seeley AH,
Costakos D,
Glaser TM,
Levin AV,
Liskova P,
Murray JC,
Semina EV
J Med Genet
2023 Apr;60(4):368-379.
Epub 2022 Jul 26
doi: 10.1136/jmg-2022-108646.
PMID: 35882526Free PMC Article
Spahiu L,
Behluli E,
Grajçevci-Uka V,
Liehr T,
Temaj G
J Mother Child
2022 Mar 1;26(1):118-123.
Epub 2023 Feb 22
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
PMID: 36803942Free PMC Article
Kylat RI
Acta Paediatr
2022 May;111(5):948-951.
Epub 2022 Jan 31
doi: 10.1111/apa.16260.
PMID: 35044009
Karaconji T,
Zagora S,
Grigg JR
Clin Exp Ophthalmol
2022 Mar;50(2):232-246.
Epub 2022 Jan 25
doi: 10.1111/ceo.14039.
PMID: 35023613
Seifi M,
Walter MA
Clin Genet
2018 Jun;93(6):1123-1130.
Epub 2018 Jan 25
doi: 10.1111/cge.13148.
PMID: 28972279
Therapy
Yuan Y,
Wang W,
Xiong R,
Zhang J,
Li C,
Yang S,
Friedman DS,
Foster PJ,
He M
Ophthalmology
2023 Aug;130(8):786-794.
Epub 2023 Apr 6
doi: 10.1016/j.ophtha.2023.03.024.
PMID: 37030454
Ying S,
Sidoti PA,
Panarelli JF
Curr Opin Ophthalmol
2023 Mar 1;34(2):162-167.
Epub 2022 Nov 9
doi: 10.1097/ICU.0000000000000929.
PMID: 36730733
He MY,
Feng JR,
Zhang L
Semin Ophthalmol
2022 Oct-Nov;37(7-8):849-855.
Epub 2022 Jul 20
doi: 10.1080/08820538.2022.2102929.
PMID: 35856463
Venkataraman P,
Haripriya A,
Mohan N,
Rajendran A
Indian J Ophthalmol
2022 Jul;70(7):2262-2271.
doi: 10.4103/ijo.IJO_2888_21.
PMID: 35791105Free PMC Article
Nelson LB,
Maumenee IH
Surv Ophthalmol
1982 Nov-Dec;27(3):143-60.
doi: 10.1016/0039-6257(82)90069-8.
PMID: 6984233
Prognosis
Kylat RI
Acta Paediatr
2022 May;111(5):948-951.
Epub 2022 Jan 31
doi: 10.1111/apa.16260.
PMID: 35044009
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
Meuwissen ME,
Halley DJ,
Smit LS,
Lequin MH,
Cobben JM,
de Coo R,
van Harssel J,
Sallevelt S,
Woldringh G,
van der Knaap MS,
de Vries LS,
Mancini GM
Genet Med
2015 Nov;17(11):843-53.
Epub 2015 Feb 26
doi: 10.1038/gim.2014.210.
PMID: 25719457
Hoa M,
Slattery WH 3rd
Otolaryngol Clin North Am
2012 Apr;45(2):315-32, viii.
doi: 10.1016/j.otc.2011.12.005.
PMID: 22483819
Vajsar J,
Schachter H
Orphanet J Rare Dis
2006 Aug 3;1:29.
doi: 10.1186/1750-1172-1-29.
PMID: 16887026Free PMC Article
Clinical prediction guides
Aksu Uzunhan T,
Ertürk B,
Aydın K,
Ayaz A,
Altunoğlu U,
Yarar MH,
Gezdirici A,
İçağasıoğlu DF,
Gökpınar İli E,
Uyanık B,
Eser M,
Kutbay YB,
Topçu Y,
Kılıç B,
Bektaş G,
Arduç Akçay A,
Ekici B,
Chousein A,
Avcı Ş,
Yüksel A,
Kayserili H
Clin Neurol Neurosurg
2023 Jan;224:107560.
Epub 2022 Dec 13
doi: 10.1016/j.clineuro.2022.107560.
PMID: 36580738
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
Gus PI,
Donis KC,
Marinho D,
Martins TF,
de Souza CFM,
Carloto RB,
Leivas G,
Schwartz IVD
Ophthalmic Genet
2021 Feb;42(1):71-74.
Epub 2020 Sep 17
doi: 10.1080/13816810.2020.1821384.
PMID: 32940091
Bachmann-Gagescu R,
Dempsey JC,
Phelps IG,
O'Roak BJ,
Knutzen DM,
Rue TC,
Ishak GE,
Isabella CR,
Gorden N,
Adkins J,
Boyle EA,
de Lacy N,
O'Day D,
Alswaid A,
Ramadevi A R,
Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
Tuysuz B,
Topçu M;
University of Washington Center for Mendelian Genomics,
Chance P,
Parisi MA,
Glass IA,
Shendure J,
Doherty D
J Med Genet
2015 Aug;52(8):514-22.
Epub 2015 Jun 19
doi: 10.1136/jmedgenet-2015-103087.
PMID: 26092869Free PMC Article
Meuwissen ME,
Halley DJ,
Smit LS,
Lequin MH,
Cobben JM,
de Coo R,
van Harssel J,
Sallevelt S,
Woldringh G,
van der Knaap MS,
de Vries LS,
Mancini GM
Genet Med
2015 Nov;17(11):843-53.
Epub 2015 Feb 26
doi: 10.1038/gim.2014.210.
PMID: 25719457