Results 21 to 30 of about 2,495 (204)

Visual development in the blepharophimosis syndrome. [PDF]

British Journal of Ophthalmology, 1991
One hundred and one cases of the blepharophimosis syndrome presenting over a decade are reviewed with particular attention to the factors influencing their visual development. Three distinct clinical patterns emerge--severe bilateral ptosis, moderate bilateral ptosis, and asymmetric ptosis--and their differing incidence of amblyopia and strabismus is ...
M, Beaconsfield, J W, Walker, J R, Collin   +2 more
openaire   +2 more sources

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review. [PDF]

Clin Genet
This study analyses 29 new Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) patients with BRPF1 variants and reveals a broad phenotypic spectrum, including novel features such as palpebral oedema. It highlights the variability in clinical expression, underlines the importance of ophthalmological assessment and detailed ...
Colson C, Tessarech M, Boucher-Brischoux E, Boute-Benejean O, Vincent-Delorme C, Vanlerberghe C, Boussion S, Cunff JL, Duban-Bedu B, Faivre L, Thauvin C, Philippe C, Bruel AL, Tran Mau-Them F, Houdayer C, Lesca G, Putoux A, Lévy J, Patat O, Rio M, Ghoumid J, Smol T.   +21 more
europepmc   +2 more sources

BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

Molecular Genetics & Genomic Medicine, 2019
Background Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin reader, have been
Naomi Pode‐Shakked, Ortal Barel, Ben Pode‐Shakked, Aviva Eliyahu, Amihood Singer, Omri Nayshool, Nitzan Kol, Annick Raas‐Rothschild, Elon Pras, Mordechai Shohat   +9 more
doaj   +1 more source

Surgical management of blepharophimosis syndrome

Indian Journal of Ophthalmology, 1983
Betharia S, Dayal Y, Kalra B
doaj   +2 more sources

Congenital Ectropion in Three Babies in the University of Benin Teaching Hospital, Nigeria

Nigerian Journal of Medicine, 2022
Congenital ectropion is a rare condition affecting newborns, in which the upper eyelid is turned outwards. Its etiology and pathogenesis, while not yet clear, are associated with congenital lid disorders such as blepharophimosis syndrome, congenital ...
Rachel Onyeka Enebe, Oseluese Anastasia Dawodu   +1 more
doaj   +1 more source

A rare association of blepharophimosis–ptosis–epicanthus inversus syndrome with unilateral posterior persistent fetal vasculature

Indian Journal of Ophthalmology. Case Reports, 2023
Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) is a rare genetic syndrome characterized by dysmorphism of ocular adnexa. We report a rare presentation of BPES and posterior persistent fetal vasculature (PFV) in a 10-year-old male child.
Syed W A Rizvi, Iraj A Khan, Syed M D Qaseem, Syed A R Rizvi, Mohammed A Siddiqui, Pragya Ahuja   +5 more
doaj   +1 more source

Bowman's membrane corneal dystrophy in a case of McDonough syndrome: A new association

Indian Journal of Ophthalmology. Case Reports, 2022
Ocular features described as part of the McDonough syndrome include eyelid anomalies like blepharophimosis and ptosis in conjunction with motility defects of the eye with the presence of strabismus.
Parul Jain, Ritu Arora, Abhilasha Sanoria, Akshay K Singh   +3 more
doaj   +1 more source

Factors related to amblyopia in congenital ptosis after frontalis sling surgery

BMC Ophthalmology, 2018
Background Amblyopia is a main concern in children undergoing frontalis sling surgery for repairing congenital ptosis. This study aimed to evaluate factors related to amblyopia in children undergoing frontalis sling surgery.
Youn-Shen Bee, Pei-Jhen Tsai, Muh-Chiou Lin, Ming-Ying Chu   +3 more
doaj   +1 more source

A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome

Science Progress, 2020
The purpose of this study was to evaluate the functional and cosmetic outcomes of a new modified Fox pentagon technique performed using polytetrafluoroethylene in frontalis suspension surgery for blepharophimosis syndrome.
Yuan Wang, Qian Wu, Li Li, Wen Liu, Cheng Li, Yunwei Fan, WenHong Cao, Ningdong Li   +7 more
doaj   +1 more source

Triple trouble: Congenital nasolacrimal duct obstruction, cleft palate, and sensorineural hearing loss - A rare association of blepharophimosis-ptosis-epicanthus inversus syndrome

TNOA Journal of Ophthalmic Science and Research, 2021
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is autosomal dominant disorder affecting 200 families worldwide. It is marked by bilateral ptosis with poor levator function, shortened horizontal palpebral fissures, and epicanthus inversus. We
Reshma Ramakrishnan, Sayali Santosh Amberkar, Priyanka Gandhi   +2 more
doaj   +1 more source