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Arch Soc Esp Oftalmol (Engl Ed) 2022 May 12;97(5):276-280. Epub 2022 Mar 12.

Servicio de Oftalmología, Hospital Universitario 12 de Octubre, Madrid, Spain; Instituto de investigación i+12, Hospital Universitario 12 de Octubre, Madrid, Spain; Departamento de Inmunología, Oftalmología y ORL, Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain.

Medical history of 6 patients diagnosed with Williams-Beuren Syndrome (SWB) in pediatric age was revised. All the patients presented characteristic elf facies and cardiovascular abnormalities. All presented good visual acuity, except one case of unilateral amblyopia. Read More

Indian J Ophthalmol 2022 Mar;70(3):944-947

Department of Ophthalmology, Institute of Medical Sciences and SUM Hospital, Siksha O Anusandhan (Deemed to be) University, Bhubaneswar, Odisha, India.

Purpose: Congenital ocular anomalies are rare but important cause of childhood blindness. This study aimed to observe the clinical patterns of congenital ocular anomalies in the pediatric age group (0 to 5 years) and its association with various demographic parameters.

Methods: Hospital-based cross-sectional study done on all pediatric patients in the 0-to-5-year age group presenting with congenital ocular anomalies to the Ophthalmology department of a tertiary care hospital in Eastern India between October 2018 and October 2020. Read More

Klin Monbl Augenheilkd 2022 Jan 4;239(1):57-63. Epub 2022 Feb 4.

Abteilung Augenheilkunde, Bereich Strabologie, Neuroophthalmologie und okuloplastische Chirurgie, Universitätsmedizin Göttingen, Deutschland.

Background: Report of clinical findings relating to the lacrimal system in congenital clinical anophthalmos and severe blind microphthalmos (MAC-complex patients).

Methods: A retrospective study of the notes of 207 consecutive patients treated surgically at least once with highly hydrophilic self-inflating expanders for MAC between 1998 and 2021. The lacrimal drainage system was always probed and irrigated under general anaesthesia before any other procedure was started. Read More

Am J Med Genet A 2022 05 21;188(5):1600-1606. Epub 2022 Jan 21.

Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Centre Hospitalier Universitaire Dijon, Dijon, France.

Loss-of-function variants in KMT2D are responsible for Kabuki syndrome type 1 (KS1). In the last 5 years, missense variants in exon 38 or 39 in KMT2D have been found in patients exhibiting a new phenotype with multiple malformations and absence of intellectual disability, distinct from KS1. To date, only 16 cases have been reported with classic features of hearing loss, abnormality of the ear, lacrimal duct defects, branchial sinus/neck pits, choanal atresia (CA), athelia, hypo(para)thyroidism, growth delay, and dental anomalies. Read More

BMJ Case Rep 2022 Jan 13;15(1). Epub 2022 Jan 13.

Ophthalmology, Dr. RP Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, Delhi, India

Heminasal agenesis is an exceedingly rare congenital anomaly which is frequently associated with disorders of eye, lacrimal drainage system and face. At times, a proboscis may also be noted with this condition. Herein, we present a case of a 13-year-old boy who presented to us with heminasal agenesis with concomitant microphthalmos, leucomatous corneal opacity, blepharoptosis, dacryocystocoele and maxillary hypoplasia. Read More

Eur J Ophthalmol 2022 Jan 12:11206721211073433. Epub 2022 Jan 12.

VST Centre for Glaucoma Care, L V Prasad Eye Institute, Hyderabad, India.

Aim: To evaluate the occurrence of co-existing congenital nasolacrimal duct obstruction (CNLDO) and other lacrimal anomalies in eyes with congenital glaucoma (CG).

Methods: Retrospective analysis of children aged ≤1-year with co-existing CG and CNLDO seen between 1998 and 2019, treatment interventions and outcomes.

Results: During the study period, 1993 children had CG and 6203 children had CNLDO, among the children aged 1-year or less. Read More

Vet Radiol Ultrasound 2022 May 16;63(3):298-305. Epub 2021 Dec 16.

Department of Veterinary Medicine and Surgery, University of Missouri, Columbia, Missouri, USA.

Radioactive iodine is frequently used for staging of human thyroid carcinomas. Iodine-124 scans performed using position emission tomography (PET) allow for more precise dosimetry of therapeutic radioiodine. The distribution of I-124 has not previously been described in veterinary medicine. Read More

Vestn Otorinolaringol 2021 ;86(5):70-74

Pirogov Russian National Research Medical University, Moscow, Russia.

Objective: To study the anatomical features of the lower nasal passage in children in the age aspect by analyzing the results of endoscopic examination of the nasal cavity.

Material And Methods: The study included 377 children who did not have otorhinolaryngological and ophthalmological pathologies, as well as congenital anomalies in the architectonics of the nose. The distribution into 4 groups, depending on age, was carried out according to the main provisions of the classification of childhood periods by N. Read More

Ophthalmic Genet 2022 02 19;43(1):130-133. Epub 2021 Oct 19.

Ophthalmology, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.

Purpose: Important implications exist for ophthalmologists when considering possible early surgical intervention for potential amblyogenic anatomical abnormalities. The authors discuss the risks and benefits from an ophthalmological perspective of different interventions and review the genetic testing that confirmed the diagnosis.

Observations: The authors describe the findings and management of an infant with Freeman Sheldon syndrome presenting with blepharophimosis of both eyelids resulting in inability to open both eyes during the first several days of life. Read More

J AAPOS 2021 12 25;25(6):356-357. Epub 2021 Sep 25.

University of Health Sciences, Haydarpasa Numune Education and Research Hospital, Sadik Eratik Eye Institute, Istanbul, Turkey. Electronic address:

A 22-month-old boy with bilateral epiphora since birth and positive fluorescein dye disappearance test in both eyes underwent nasolacrimal duct probing, with multiple passes to ensure that the obstruction was resolved. Immediately after the procedure was completed, bilateral orbital emphysema developed. The patient was started on systemic antibiotics and systemic steroids and monitored closely. Read More

Orbit 2021 Sep 23:1-5. Epub 2021 Sep 23.

Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a congenital eyelid syndrome. Several associations, including the horizontal displacement of the puncta, canalicular stenosis, and ectropion have been so far described. Herein, we report a one-year-old boy presented to the Oculoplastic Clinic of Farabi Eye Hospital with complaint of watery discharge from both eyes since his birth. Read More

PLoS One 2021 7;16(9):e0257020. Epub 2021 Sep 7.

Small Animal Department, Faculty of Veterinary Medicine, University of Leipzig, Leipzig, Germany.

Objectives: This study aimed to investigate and compare the anatomical features of the nasolacrimal drainage system (NDS) in three brachycephalic dog breeds with those of normocephalic dogs, taking into account how the NDS was related to the malformed brachycephalic head.

Animals: Fifty-one brachycephalic dogs were examined, comprising 23 Pugs, 18 French Bulldogs, and 10 English Bulldogs. Six normocephalic dogs of different breeds served as a comparison. Read More

Ophthalmic Plast Reconstr Surg 2022 Mar-Apr 01;38(2):151-153

Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute, Hyderabad, Telangana, India.

Purpose: To study the clinical profile, associated lacrimal disorders, and long-term outcomes following a membranotomy, in patients with incomplete punctal canalization (IPC).

Methods: Retrospective interventional study was performed of all the patients diagnosed with IPC during the study period over 5 years from January 2015 to December 2020. The diagnosis of IPC was made based on the earlier published guidelines. Read More

Eur J Ophthalmol 2022 May 31;32(3):1464-1468. Epub 2021 May 31.

Ophthalmology Clinic, Batigoz Hospital, Istanbul, Turkey.

Purpose: To evaluate the effect of monocanalicular silicone tube intubation outcomes as an initial surgical treatment in children older than 1 year old with primary nasolacrimal obstruction.

Methods: Probing or monocanalicular silicone tube intubation was performed as primary surgical treatment on 12-48 months old children with primary nasolacrimal obstruction. Probing was performed on 53 eyes of 43 patients and silicone tube intubation on 45 eyes of 39 patients. Read More

J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):204. Epub 2021 May 1.

J Laryngol Otol 2021 Jul 17;135(7):652-655. Epub 2021 May 17.

Sanjeevani Ultrasound and Diagnostic Centre, Faridabad, India.

Background: Arrhinia is defined as the partial or complete absence of the nasal structures. It is a defect of embryonal origin and can be seen in association with other craniofacial anomalies, central nervous system anomalies, absence of paranasal sinuses, and other palatal and ocular abnormalities. Very few patients with arrhinia have been reported so far in the history of modern medicine. Read More

Eur J Ophthalmol 2022 Jan 12;32(1):108-114. Epub 2021 Feb 12.

Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.

Purpose: To evaluate the various surgical modalities of congenital lacrimal fistula and assess the mutual effect of lacrimal fistula and lacrimal drainage abnormality on the individual surgical outcomes.

Methods: In this retrospective cohort and case-control study, 74 eyes from 63 patients with lacrimal fistula who underwent surgical management between 2000 and 2015 at three medical centers were enrolled. The data collected included sex, age, preoperative symptoms, presence of concurrent lacrimal drainage abnormality, surgical methods, and surgical outcomes. Read More

Ophthalmic Epidemiol 2021 08 19;28(4):306-311. Epub 2020 Nov 19.

Moorfields Eye Hospital Centre, Abu Dhabi, United Arab Emirates.

: To report the prevalence of the perinatal ocular disease in healthy infants referred to a referral eye centre in the Middle East region for comprehensive ocular examinations.: All healthy full-term babies born at a tertiary care women's and children hospital were referred to Moorfields Eye Hospital Centre in Abu Dhabi (MEHCAD), the United Arab Emirates for comprehensive ocular examination between January 2018 and April 2019. The examination included red-reflex testing, external, anterior and dilated posterior segment examination, and refraction. Read More

Invest Ophthalmol Vis Sci 2020 11;61(13)

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou City, China.

Purpose: Obstruction of the tear drainage causes a range of ocular surface disorders. Hitherto, the genetics of tear duct development and obstruction has been scarcely explored, and related animal models are lacking. This study aims to study the potential role of the Wnt/PCP pathway mediated by Prickle 1 in tear duct development and diseases. Read More

Ann Anat 2021 Jan 21;233:151613. Epub 2020 Oct 21.

Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute, India. Electronic address:

Background: To review and update the syndromic and non-syndromic systemic associations of congenital lacrimal drainage anomalies.

Methods: The authors performed a PubMed search of all articles published in English on congenital lacrimal drainage anomalies (CLDA). The current review provides an update from January 2017 to August 2020 on all CLDA associated with clinical syndromes or non-syndromic systemic disorders. Read More

Int J Pediatr Otorhinolaryngol 2020 Dec 15;139:110448. Epub 2020 Oct 15.

Department of Otolaryngology, University of Kentucky Medical Center, Lexington, KY, USA. Electronic address:

Objectives: Epiphora is a common presenting complaint in infants affecting up to 6% of infants in the United States. It is most frequently due to congenital anomalies of the nasolacrimal duct system, termed congenital nasolacrimal duct obstruction (CNLDO). Nasolacrimal duct probing is widely accepted as the primary surgical intervention in cases that fail conservative management. Read More

Int J Pediatr Otorhinolaryngol 2020 Dec 28;139:110407. Epub 2020 Sep 28.

Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute, India. Electronic address:

Objective: To assess the profiles and outcomes of complex congenital nasolacrimal duct obstruction (C-CNLDO).

Methods: Retrospective interventional case-series was performed on patients diagnosed with C-CNLDO and managed at a tertiary care Dacryology Institute from Jan 2016 to June 2019. Complex CNLDO was diagnosed based on intraoperative findings during probing and are defined as entities where CNLDO is secondary to, or associated with complex embryonic entities like buried probe, mal-development or non-development of bony NLD, additional proximal lacrimal dysgenesis, atonic sac, or associated craniofacial syndromes and craniofacial dysostosis. Read More

J AAPOS 2020 12 10;24(6):382-384. Epub 2020 Oct 10.

Byers Eye Institute, Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California.

Punctal agenesis and other nasolacrimal abnormalities have been infrequently reported in CHARGE syndrome-a constellation of findings affecting the eyes, heart, choana, and ears-which generally presents at birth. We present a rare case of punctal agenesis with delayed-onset dacryocystocele/lacrimal sac mucocele in a teenager with CHARGE syndrome. Read More

Int J Pediatr Otorhinolaryngol 2020 Dec 29;139:110408. Epub 2020 Sep 29.

Department of Oculoplastic, Orbital & Lacrimal Surgery, Aichi Medical University Hospital, Aichi, Japan. Electronic address:

We examined the location of the internal orifice of congenital lacrimal fistula using a dacryoendoscope in 5 patients. A suture inserted from the skin orifice and passing into the lacrimal drainage system through the fistula track was identified using a dacryoendoscope. Consequently, the suture passed into the lacrimal sac in all patients. Read More

Am J Med Genet A 2020 11 18;182(11):2641-2645. Epub 2020 Sep 18.

Integrated Medicine Department, Federal University of Paraná Curitiba, Paraná, Brazil.

Down syndrome is the most common chromosomal disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of visual disorders that, if left untreated, can negatively affect child development. The aim of this study was to determine the prevalence of ophthalmological findings among patients who attended an outpatient clinic for patients with Down syndrome in southern Brazil between 2005 and 2016. Read More

Am J Med Genet C Semin Med Genet 2020 09 10;184(3):611-617. Epub 2020 Sep 10.

Cincinnati Children's Hospital, Abrahamson Pediatric Eye Institute, Cincinnati, Ohio, USA.

To report ophthalmic findings of patients without colobomas, and with a clinical and molecular diagnosis of CHARGE Syndrome. Retrospective study of ophthalmic findings in 67 CHARGE patients-clinically confirmed diagnosis with positive CHD7 mutation-seen in the Ophthalmology department of Cincinnati Children's Hospital Medical Center between January 1, 2008 through September 25, 2018. Criteria for inclusion in this study was absence of any form of a coloboma in either eye. Read More

Orbit 2021 Dec 8;40(6):509-512. Epub 2020 Sep 8.

Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute, Hyderabad-34, India.

Purpose: To present first of its kind series on the clinical features and outcomes of lacrimal drainage disorders in Peters anomaly and Peters plus syndrome.

Methods: A retrospective chart review was performed of all consecutive patients who were known cases of Peters anomaly or Peters plus anomaly and were diagnosed with associated congenital lacrimal drainage disorders. The study period was from June 2016 to Dec 2020. Read More

Neuroradiol J 2021 Feb 31;34(1):21-32. Epub 2020 Aug 31.

Department of Radiology, University of Missouri Health Care, USA.

Orbital lesions in the pediatric population vary from adults in terms of their presentation, unique pathology, and imaging characteristics. The prompt and accurate diagnosis of these lesions is imperative to prevent serious consequences in terms of visual impairment and disfigurement. Along with dedicated ophthalmologic examination, imaging is instrumental in characterizing these lesions, both for accurate diagnosis and subsequent management. Read More

J Craniofac Surg 2020 Oct;31(7):1991-1994

Department of Ophthalmology, Sisli Hamidiye Etfal Training and Research Hospital.

Purpose: To investigate whether impaired lacrimal pump function is a possible cause of discharge in patients wearing an artificial eye compared with the remaining healthy eye.

Methods: Consecutive patients wearing unilateral ocular prosthesis for ≥6 months were included in this retrospective study. Excluded were any deformities of eyelids or nasal passage, socket complications such as entropion, ectropion, ptosis, infection, pyogenic granuloma, contracted socket, obstruction of nasolacrimal duct diagnosed with lacrimal irrigation and a difference greater than 2 mm in terms of protrusion between two eyes detected by Hertel exophthalmometry. Read More