Proximal lacrimal obstructions: a review

MG Fiorino, C Quaranta‐Leoni… - Acta …, 2021 - Wiley Online Library
Purpose The aims of the review are to summarize the aethiopathogenesis, management
and outcomes of different treatments of proximal lacrimal obstructions. Methods An …

Updates on congenital lacrimal drainage anomalies and their association with syndromes and systemic disorders: a major review

MJ Ali - Annals of Anatomy-Anatomischer Anzeiger, 2021 - Elsevier
Background To review and update the syndromic and non-syndromic systemic associations
of congenital lacrimal drainage anomalies. Methods The authors performed a PubMed …

Management of proximal lacrimal obstructions: a rationale

FM Quaranta‐Leoni, MG Fiorino… - Acta …, 2021 - Wiley Online Library
Purpose To identify a rationale for correct surgical treatment of proximal lacrimal
obstructions. Methods Retrospective review of 775 consecutive patients (974 eyes) with …

Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice‐site mutation

O Freund, B Elsana, N Agam, MM Jean… - American Journal of …, 2023 - Wiley Online Library
Thirteen affected individuals of six generations of a single kindred presented with epiphora
evident from infancy. Physical exam and Schirmer test revealed variable expression of tear …

Endoscopic dacryocystorhinostomy outcomes in pediatric patients with nasolacrimal duct obstruction

AT Zhao, WR Katowitz - Orbit, 2024 - Taylor & Francis
Purpose To determine the risk factors impacting the surgical success of endonasal
dacryocystorhinostomy (eDCR) in pediatric patients. Methods This is a retrospective …

[HTML][HTML] Identification of a novel mutation in the FGF10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital …

HY Zhang, CY Zhang, F Wang, H Tao… - International Journal …, 2023 - ncbi.nlm.nih.gov
AIM To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital
syndrome [LADD (MIM 149730)] showing congenital lacrimal duct dysplasia as the main …

Histopathological evidence of canalicular agenesis in patients with punctal agenesis: punctum update study 2

N Bothra, MJ Ali - Ophthalmic Plastic & Reconstructive Surgery, 2022 - journals.lww.com
Purpose: The purpose of this study was to histologically assess the presence and extent of
the canalicular tissue in cases of punctal agenesis. Methods: A prospective, interventional …

Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis

K Kanwar, S Bashey, BL Bohnsack… - American Journal of …, 2024 - Wiley Online Library
CHARGE syndrome is a rare multi‐system condition associated with CHD7 variants.
However, ocular manifestations and particularly ophthalmic genotype–phenotype …

Lacrimal Drainage Anomalies in Goldenhar, Rubinstein-Taybi, and Ectodermal-Ectrodactyly-Clefting Syndromes

N Bothra, P Agarwal, MJ Ali - Seminars in Ophthalmology, 2024 - Taylor & Francis
Objective To describe in detail the lacrimal drainage system anomalies and review of
literature in patients with Goldenhar syndrome, Rubinstein-Taybi syndrome (RTS), and …

Ocular and Systemic Abnormalities in Punctal Agenesis

RF Marshall, D Landau-Prat, A Strong… - Ophthalmic Plastic & …, 2024 - journals.lww.com
Background: Punctal agenesis (PA) is a rare congenital anomaly that can occur in isolation
or as part of an underlying syndrome. The benefit of genetic assessment in individuals with …