1
|
Waardenburg PJ: A new syndrome combining
developmental anomalies of the eyelids, eyebrows and nose root with
pigmentary defects of the iris and head hair and with congenital
deafness. Am J Hum Genet. 3:195–253. 1951.PubMed/NCBI
|
2
|
Read AP and Newton VE: Waardenburg
syndrome. J Med Genet. 34:656–665. 1997.PubMed/NCBI View Article : Google Scholar
|
3
|
Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z,
Xia K and Feng Y: Novel mutations of PAX3, MITF, and SOX10 genes in
Chinese patients with type I or type II Waardenburg syndrome.
Biochem Biophys Res Commun. 397:70–74. 2010.PubMed/NCBI View Article : Google Scholar
|
4
|
Müllner-Eidenböck A, Moser E, Frisch H and
Read AP: Waardenburg syndrome type 2 in a Turkish family:
Implications for the importance of the pattern of fundus
pigmentation. Br J Ophthalmol. 85:1384–1386. 2001.PubMed/NCBI View Article : Google Scholar
|
5
|
Cortés-González V, Zenteno JC,
Guzmán-Sánchez M, Giordano-Herrera V, Guadarrama-Vallejo D,
Ruíz-Quintero N and Villanueva-Mendoza C: Tietz/Waardenburg type 2A
syndrome associated with posterior microphthalmos in two unrelated
patients with novel MITF gene mutations. Am J Med Genet A.
170:3294–3297. 2016.PubMed/NCBI View Article : Google Scholar
|
6
|
Gupta V and Aggarwal HC: Open angle
glaucoma as a manifestation of Waardenburg's syndrome. Indian J
Ophthalmol. 48:49–50. 2000.PubMed/NCBI
|
7
|
Kadoi C, Hayasaka S and Yamamoto S: Branch
retinal vein occlusion in a patient with Waardenburg syndrome.
Ophthalmologica. 210:354–357. 1996.PubMed/NCBI View Article : Google Scholar
|
8
|
Meire F, Standaert L, De Laey JJ and Zeng
LH: Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn
ptosis. Am J Med Genet. 27:683–686. 1987.PubMed/NCBI View Article : Google Scholar
|
9
|
Farrer LA, Grundfast KM, Amos J, Arnos KS,
Asher JH Jr, Beighton P, Diehl SR, Fex J, Foy C, Friedman TB, et
al: Waardenburg syndrome (WS) type I is caused by defects at
multiple loci, one of which is near ALPP on chromosome 2: First
report of the WS consortium. Am J Hum Genet. 50:902–913.
1992.PubMed/NCBI
|
10
|
Shields CL, Nickerson SJ, Al-Dahmash S and
Shields JA: Waardenburg syndrome: Iris and choroidal
hypopigmentation: Findings on anterior and posterior segment
imaging. JAMA Ophthalmol. 131:1167–1173. 2013.PubMed/NCBI View Article : Google Scholar
|
11
|
Li J, Lin M, Zhou H, Jia R and Fan X:
Double-eyelid blepharoplasty incorporating blepharoptosis surgery
for ‘latent’ aponeurotic ptosis. J Plast Reconstr Aesthet Surg.
64:993–999. 2011.PubMed/NCBI View Article : Google Scholar
|
12
|
Quaranta-Leoni FM, Sposato S, Leonardi A,
Iacoviello L and Costanzo S: Timing of surgical correction for the
treatment of unilateral congenital ptosis: Effects on cosmetic and
functional results. Orbit. 36:382–387. 2017.PubMed/NCBI View Article : Google Scholar
|
13
|
Clauser L, Tieghi R and Galie M: Palpebral
ptosis: Clinical classification, differential diagnosis, and
surgical guidelines: An overview. J Craniofac Surg. 17:246–254.
2006.PubMed/NCBI View Article : Google Scholar
|
14
|
Gazzola R, Piozzi E, Vaienti L and Wilhelm
Baruffaldi Preis F: Therapeutic algorithm for congenital ptosis
repair with levator resection and frontalis suspension: Results and
literature review. Semin Ophthalmol. 33:454–460. 2018.PubMed/NCBI View Article : Google Scholar
|
15
|
Dave TV, Sharma P, Nayak A, Moharana R and
Naik MN: Outcomes of frontalis sling versus levator resection in
patients with monocular elevation deficiency associated ptosis.
Ophthalmic Plast Reconstr Surg. 35:251–255. 2019.PubMed/NCBI View Article : Google Scholar
|
16
|
Chrisp P and Sorkin EM: Ocular carteolol.
A review of its pharmacological properties, and therapeutic use in
glaucoma and ocular hypertension. Drugs Aging. 2:58–77.
1992.PubMed/NCBI View Article : Google Scholar
|
17
|
Wallace DK, Repka MX, Lee KA, Melia M,
Christiansen SP, Morse CL and Sprunger DT: American Academy of
Pediatric Ophthalmology/Strabismus Preferred Practice Pattern
Pediatric Ophthalmology Panel: Amblyopia preferred practice
pattern®. Ophthalmology. 125:P105–P142. 2018.PubMed/NCBI View Article : Google Scholar
|
18
|
Liu XZ, Newton VE and Read AP: Waardenburg
syndrome type II: Phenotypic findings and diagnostic criteria. Am J
Med Genet. 55:95–100. 1995.PubMed/NCBI View Article : Google Scholar
|
19
|
Cahill KV, Bradley EA, Meyer DR, Custer
PL, Holck DE, Marcet MM and Mawn LA: Functional indications for
upper eyelid ptosis and blepharoplasty surgery: A report by the
American Academy of Ophthalmology. Ophthalmology. 118:2510–2517.
2011.PubMed/NCBI View Article : Google Scholar
|
20
|
Tamayo ML, Gelvez N, Rodriguez M, Florez
S, Varon C, Medina D and Bernal JE: Screening program for
Waardenburg syndrome in Colombia: Clinical definition and
phenotypic variability. Am J Med Genet A. 146A:1026–1031.
2008.PubMed/NCBI View Article : Google Scholar
|
21
|
Akal A, Göncü T, Boyaci N and Yilmaz ÖF:
Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.
BMJ Case Rep. 2013(bcr2013201140)2013.PubMed/NCBI View Article : Google Scholar
|
22
|
SooHoo JR, Davies BW, Allard FD and
Durairaj VD: Congenital ptosis. Surv Ophthalmol. 59:483–492.
2014.PubMed/NCBI View Article : Google Scholar
|
23
|
Nork TM, Shihab ZM, Young RS and Price J:
Pigment distribution in Waardenburg's syndrome: A new hypothesis.
Graefes Arch Clin Exp Ophthalmol. 224:487–492. 1986.PubMed/NCBI View Article : Google Scholar
|
24
|
Ohno N, Kiyosawa M, Mori H, Wang WF,
Takase H and Mochizuki M: Clinical findings in Japanese patients
with Waardenburg syndrome type 2. Jpn J Ophthalmol. 47:77–84.
2003.PubMed/NCBI View Article : Google Scholar
|