Congenital ptosis

Congenital ptosis is characterized by superior eyelid drop present at birth.

Aniridia

Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.


Total: 5

                       


(per page)
PMID (PMCID)
29380764
(5819101)
 MIXED_SAMPLE Child
Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family.
Palayil I, Priya SG, Sivan NVS, Madhivanan N, Venkatachalam PS, Jagadeesan M.
Indian J Ophthalmol. 2018;66(2):229-232.
The three affected individuals had aniridia with several common features and an uncommon presentation of bilateral congenital ptosis.
16646034
 FEMALE Infant
WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH.
Lennon PA, Scott DA, Lonsdorf D, Wargowski DS, Kirkpatrick S, Patel A, Cheung SW.
Am J Med Genet A. 2006;140(11):1214-8.
The patient is examined in light of other reported patients with deletions and/or translocations involving the regions between 11p12 --> 11p14 including patients with WAGR + obesity (WAGRO) as well as with other reported patients with aniridia and congenital ptosis.
15702131
 FEMALE Adult
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.
Bremond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A.
Eur J Hum Genet. 2005;13(4):409-13.
She presented with aniridia, cataract, nystagmus, corneal ulcers and bilateral congenital ptosis.
11553050
 MIXED_SAMPLE Adult
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
Malandrini A, Mari F, Palmeri S, Gambelli S, Berti G, Bruttini M, Bardelli AM, Williamson K, van Heyningen V, Renieri A.
Clin Genet. 2001;60(2):151-4.
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
3358595
 MIXED_SAMPLE Adult
Aniridia with congenital ptosis and glaucoma: a family study.
Cohen SM, Nelson LB.
Ann Ophthalmol. 1988;20(2):53-7.
Aniridia with congenital ptosis and glaucoma: a family study.