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Genes (Basel) 2021 Apr 22;12(5). Epub 2021 Apr 22.

Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.

Iris integrity is required to regulate both the amount of light reaching the retina and intraocular pressure (IOP), with elevated IOP being a major risk factor for glaucoma. Congenital microcoria (MCOR) is an extremely rare, autosomal dominant disease affecting iris development and hindering both of these functions. It is characterized by absent or underdeveloped dilator muscle fibers and immaturity of the iridocorneal angle-where the aqueous humor is drained-which play a central role in IOP regulation. Read More

Am J Hum Genet 2021 Apr 21. Epub 2021 Apr 21.

Jonas Children's Vision Care and the Bernard & Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, Columbia Stem Cell Initiative, Columbia University, New York, NY 10032, USA; Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, NY 10032, USA; Department of Pathology & Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA. Electronic address:

Macular degeneration (MD) is characterized by the progressive deterioration of the macula and represents one of the most prevalent causes of blindness worldwide. Abnormal intracellular accumulation of lipid droplets and pericellular deposits of lipid-rich material in the retinal pigment epithelium (RPE) called drusen are clinical hallmarks of different forms of MD including Doyne honeycomb retinal dystrophy (DHRD) and age-related MD (AMD). However, the appropriate molecular therapeutic target underlying these disorder phenotypes remains elusive. Read More

Ophthalmology 2021 Apr 20. Epub 2021 Apr 20.

Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.

Purpose: To report the relative frequencies of childhood and early-onset glaucoma subtypes and their genetic findings, in a large single cohort.

Design: Retrospective clinical and molecular study.

Participants: All individuals with childhood glaucoma (diagnosed 0 to <18 years) and early-onset glaucoma (diagnosed 18 to <40 years) referred to a national disease registry. Read More

Ophthalmic Physiol Opt 2021 Apr 7. Epub 2021 Apr 7.

Glaucoma Services, Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Objective: To identify the risk factors for glaucoma progression, especially the association with myopia, among treated juvenile open angle glaucoma (JOAG) patients.

Methods: Glaucomatous progression was analysed in the eyes of JOAG patients with at least 5-years of follow up in this retrospective study. Baseline variables such as age, inheritance pattern, baseline intraocular pressure (IOP), baseline central corneal thickness, visual acuity, baseline refractive error, spherical equivalent (SE) and duration of follow-up were noted. Read More

Br J Ophthalmol 2021 Mar 11. Epub 2021 Mar 11.

Department of Ophthalmology, Shanghai 9th People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200011, China

Aims: To determine the correspondence between GNAQ R183Q (c.548G＞A) mutation in abnormal scleral tissue of patients with Sturge-Weber syndrome (SWS) secondary glaucoma and explore the role of GNAQ R183Q in glaucoma pathogenesis.

Methods: Episcleral tissues were obtained from 8 patients: SWS secondary glaucoma (n=5) and primary congenital glaucoma (PCG, n=3). Read More

Biology (Basel) 2021 Jan 30;10(2). Epub 2021 Jan 30.

Área de Genética, Facultad de Medicina de Albacete/Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha, 02006 Albacete, Spain.

Myocilin is a secreted glycoprotein with a poorly understood biological function and it is mainly known as the first glaucoma gene. To explore the normal role of this protein in vivo we developed a knockout (KO) zebrafish line using CRISPR/Cas9 genome editing. This line carries a homozygous variant (c. Read More

Case Rep Ophthalmol 2020 Sep-Dec;11(3):668-675. Epub 2020 Dec 21.

King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Juvenile xanthogranuloma (JXG) is an idiopathic granulomatous inflammatory condition that usually affects children. Intraocular involvement, especially bilateral, is rare in JXG. Most patients with ocular lesions are typically infants and usually present with hyphema, iridocyclitis, and secondary glaucoma. Read More

World J Clin Cases 2021 Jan;9(3):697-706

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, Guangdong Province, China.

Background: Juvenile-onset primary open-angle glaucoma (JOAG), characterized by severe elevation of intraocular pressure and optic neuropathy prior to the age of 40, is a rare subtype of primary open-angle glaucoma. Several genetic mutations have been associated with JOAG.

Case Summary: The proband patient was a young male, diagnosed with primary open-angle glaucoma at the age of 27. Read More

Hong Kong Med J 2021 Feb 4;27(1):18-26. Epub 2021 Feb 4.

Hong Kong Eye Hospital, Kowloon Central Cluster, Hospital Authority, Hong Kong.

Purpose: To document the epidemiology, presentation, clinical interventions, and outcomes of paediatric glaucoma in Hong Kong.

Methods: This multicentre territory-wide retrospective study was performed by reviewing charts of patients with paediatric glaucoma in six clusters of the Hong Kong Hospital Authority and The Chinese University of Hong Kong from 2006 to 2015.

Results: This study included 150 eyes of 98 patients with paediatric glaucoma (presenting age: 5. Read More

J Med Genet 2021 Jan 25. Epub 2021 Jan 25.

Dermatology, University of Michigan Medical School, Ann Arbor, Michigan, USA.

Background: Singleton-Merten syndrome (SGMRT) is a rare immunogenetic disorder that variably features juvenile open-angle glaucoma (JOAG), psoriasiform skin rash, aortic calcifications and skeletal and dental dysplasia. Few families have been described and the genotypic and phenotypic spectrum is poorly defined, with variants in (DExD/H-box helicase 58) being one of two identified causes, classified as SGMRT2.

Methods: Families underwent deep systemic phenotyping and exome sequencing. Read More

Curr Opin Ophthalmol 2021 Mar;32(2):83-91

Glaucoma Research Facility & Clinical Service, Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute Of Medical Sciences, New Delhi, India.

Purpose Of Review: The study was undertaken to assess the current importance of clinical examination of the optic nerve head (ONH) in glaucoma management.

Recent Findings: ONH changes in glaucoma are easily assessed with good specificity on examination, whereas imaging has not been able to identify pallor of the neuroretinal rim (NRR), disc hemorrhages, or vascular signs of acquired cupping. Glaucomatous neuropathy in primary open angle glaucoma (POAG) has extensive databases on imaging machines, however, other glaucomas such as primary angle closure glaucoma (PACG), juvenile open angle glaucoma (JOAG), congenital, and secondary glaucomas have been reported to have a significantly different ONH morphology. Read More

Clin Exp Ophthalmol 2021 Jan 10;49(1):38-45. Epub 2021 Jan 10.

Save Sight Institute, The University of Sydney, Sydney, New South Wales, Australia.

Importance: Australian- and New Zealand-based, uveitis-specialized ophthalmologists have produced recommendations for the management of juvenile idiopathic arthritis (JIA)-type chronic anterior uveitis.

Background: Historically, the visual prognosis of JIA-type chronic anterior uveitis has been poor. New medical advances are likely to improve outcomes, but recently published guidelines are tailored for ophthalmic care in Europe and the United States. Read More

Acta Ophthalmol 2021 Jan 9. Epub 2021 Jan 9.

Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.

Purpose: To assess the clinical relevance of myocilin (MYOC) gene variants as risk factors for glaucoma in literature and to estimate their prevalence in different populations.

Methods: We reviewed the literature for published MYOC variants in glaucoma patients and estimated their prevalence in general population using gnomAD and BRAVO databases. We used several bioinformatics tools and the criteria of the American College of Medical Genetics and Genomics (ACMG) to assess the pathogenicity of the variants. Read More

Eur J Ophthalmol 2020 Dec 8:1120672120979903. Epub 2020 Dec 8.

Glaucoma Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Purpose: This study aimed to assess details of therapy required to achieve an intraocular pressure (IOP) of ⩽12 mmHg in patients with severe glaucoma of different etiologies.

Methods: Patients with a follow-up of at least 1 year, who fulfilled inclusion criteria were selected, and data analyzed with respect to baseline IOP, number of medications, and/or surgeries required to achieve an IOP of ⩽12 mmHg and ⩾6 mmHg. Final IOP, visual field status and medications/surgery required were noted. Read More

Eye (Lond) 2020 Dec 1. Epub 2020 Dec 1.

Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, 100730, Beijing, China.

Purpose: To report the outcomes of gonioscopy-assisted transluminal trabeculotomy (GATT) for juvenile-onset primary open-angle glaucoma (JOAG).

Methods: A consecutive case series of JOAG patients who underwent GATT was reviewed with follow-up period of up to 18 months. Intraocular pressure (IOP), number of glaucoma medications and success rate were compared between eyes with and without prior glaucoma surgery, and between mild-to-moderate and severe cases defined based on Humphrey Visual Field mean deviation. Read More

Exp Eye Res 2021 02 26;203:108371. Epub 2020 Nov 26.

Department of Biological Sciences, University of Delaware, Newark, DE, USA. Electronic address:

Congenital aniridia is caused by heterozygous mutations in the PAX6 gene. In this disease, congenital iris and foveal hypoplasia is associated with juvenile onset cataract, glaucoma, and corneal keratopathy. In rodents, Pax6 mutations result in a congenital reduction in ocular size that is not typically described in human aniridia. Read More

Graefes Arch Clin Exp Ophthalmol 2021 Mar 27;259(3):697-704. Epub 2020 Nov 27.

Research Institute of Ophthalmology, 2 Al-Ahram St., Giza, Egypt.

Purpose: To evaluate surgical and visual outcomes of modified adjusted trabeculotomy in juvenile glaucoma (JG) cases.

Methods: A retrospective case series; medical records of 43 patients (69 eyes) JG cases operated by adjusted trabeculotomy between 2011 and 2018. Those who completed a minimum of 1 year of regular follow-up, and up to 5 years were included in the study. Read More

Ophthalmology 2020 12;127(12):1673

Department of Ophthalmology, Aarhus University Hospital, Aarhus N, Denmark.

Int Ophthalmol 2021 Mar 13;41(3):883-889. Epub 2020 Nov 13.

Department of Ophthalmology, Cairo University, Kasr Alainy School of Medicine, Cairo, Egypt.

Purpose: Juvenile open angle glaucoma (JOAG) is a type of glaucoma that occurs in patients younger than 40 years. Only a few studies have assessed vascular perfusion in JOAG and correlated it with structural damage. The aim of this study is to investigate vascular perfusion in JOAG by optical coherence tomography angiography (OCTA) and correlate it with structural damage, represented by retinal nerve fiber layer (RNFL) thinning. Read More

J Glaucoma 2021 Mar;30(3):276-280

Department of Ophthalmology, University of North Carolina at Chapel Hill, Chapel Hill, NC.

Precis: Ahmed and Baerveldt implants succeed in 90.7% of cases for lowering intraocular pressure (IOP) <21 mm Hg at 1 year when used for the treatment of juvenile open-angle glaucoma.

Purpose: The purpose of this study was to report the 1-year outcomes of Ahmed and Baerveldt tubes as the treatment for juvenile open-angle glaucoma at an academic institution. Read More

Indian J Ophthalmol 2020 Nov;68(11):2605-2607

Smt Jadhavbai Nathmal Singhvee Glaucoma Services, Sankara Nethralaya, Medical Research Foundation, Chennai, India.

Differentiating glaucomatous and non-glaucomatous optic neuropathy can be challenging even to an experienced clinician and it is even more complex to identify early ophthalmic manifestation of neurological lesions when the optic nerve is already jeopardized by advanced glaucoma. This is a case of a patient with juvenile open-angle glaucoma with advanced glaucomatous cupping who developed an intracranial tuberculoma and subsequent obstructive hydrocephalus. Subtle edema identified in an almost totally damaged nerve, coupled with a history of headache and tinnitus, was the clinching factor prompting early treatment in the form of ventriculoperitoneal shunting and antituberculous therapy. Read More

Jpn J Ophthalmol 2021 Jan 26;65(1):115-121. Epub 2020 Oct 26.

Department of Ophthalmology, LKS Faculty of Medicine, University of Hong Kong, Room 301, Block B, Cyberport 4, Hong Kong, People's Republic of China.

Purpose: To evaluate the epidemiological features, clinical interventions, and outcomes of paediatric glaucoma in Hong Kong.

Study Design: Retrospective chart review.

Methods: Clinical data from the medical records of all patients under 18 years of age diagnosed with glaucoma from January 2008 to December 2017 at a university-affiliated, tertiary referral centre were collected. Read More

BMC Ophthalmol 2020 Oct 21;20(1):423. Epub 2020 Oct 21.

Department of Ophthalmology & Visual Science, Eye & ENT Hospital, Shanghai Medical College, Fudan University, Fenyang Road. 83, Shanghai, 200031, China.

Background: Vessel density (VD) of the elderly ocular hypertension patients measured by optical coherence tomography angiography (OCTA) have been reported. However, the studies of VD in juvenile ocular hypertension (JOHT) are limited. We wished to evaluate VD changes using OCTA in JOHT. Read More

J Glaucoma 2021 Feb;30(2):129-133

Department of Ophthalmology and Visual Science, Federal University of São Paulo.

Purpose: To apply the Childhood Glaucoma Research Network (CGRN) classification in children from a pediatric glaucoma outpatient clinic in a tertiary Brazilian care center to better understand the prevalence and the demographic and clinical characteristics of each subtype of childhood glaucoma.

Methods: This was a retrospective study in which medical records were collected from patients assisted in childhood glaucoma's clinic at the Department of Ophthalmology and Visual Sciences, Federal University of São Paulo from January 2010 to January 2018. The initial diagnosis and new diagnosis according to CGRN classification were collected. Read More

J Glaucoma 2021 Feb;30(2):203-205

Department of Ophthalmology, Shimane University Faculty of Medicine, Izumo.

Introduction: Trabeculotomy (LOT) and related goniotomy surgeries are classified based on excision or incision of the trabecular meshwork (TM); however, histologic evidence of the incision/excision pattern is insufficient.

Case Presentations: Two cases of glaucomatous eyes in which trabeculectomy specimens previously "incised" during LOT were assessed histologically. A 39-year-old man with juvenile open-angle glaucoma (case 1) and a 70-year-old man with exfoliation glaucoma (case 2) underwent trabeculectomy for insufficient intraocular pressure reduction or visual field progression after initial microhook ab interno trabeculotomy (μLOT). Read More

J Glaucoma 2021 Jan;30(1):e1-e4

Kasr Al-Aini Hospital, Cairo University, Cairo, Egypt.

Waardenburg syndrome (WS) is a genetic disorder resulting in anomalies of derivatives of neural crest cells during development. Patients tend to have variable degrees of pigmentary defects affecting skin, hair, and irides in addition to hearing loss and possible systemic neurological associations. Elevation of the intraocular pressure has been reported in several adult patients with WS. Read More

Ophthalmol Glaucoma 2021 Mar-Apr;4(2):162-172. Epub 2020 Sep 4.

Department of Ophthalmology, Faculty of Medicine, McGill University, Montreal, Canada; McGill University Health Centre Research Institute, Montreal, Canada. Electronic address:

Purpose: To assess the 1-year surgical outcomes of gonioscopy-assisted transluminal trabeculotomy (GATT) in young to middle-aged patients.

Design: Retrospective case series.

Participants: Eyes of patients between 18 and 64 years of age who underwent GATT, with and without concomitant cataract surgery, at 2 academic centers in Montreal, Canada. Read More

Case Rep Ophthalmol 2020 May-Aug;11(2):336-341. Epub 2020 Jul 14.

Glaucoma Service, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.

The purpose of the current case is to report the successful management of juvenile-onset open-angle glaucoma with bilateral XEN Gel Stent (Allegran Inc., Irvine, CA) implantation in a patient first diagnosed during pregnancy with co-existing dysautonomia. Treatment with the XEN Gel Stent provided dramatic reductions in intraocular pressure (IOP), and glaucoma medications sustained up to 23 months postoperatively. Read More