5 results on '"Eva Wai Nam Wong"'
Search Results
2. Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration
- Author
-
Eva Wai Nam Wong, Shirley S.W. Cheng, Tiffany T.Y. Woo, Robert F. Lam, and Frank H.P. Lai
- Subjects
Ophthalmology ,Pediatrics, Perinatology and Child Health ,Genetics (clinical) - Abstract
To report a case of concurrent pantothenate kinase-associated neurodegeneration (PKAN) and oculocutaneous albinism (OCA) with dual PANK2 and OCA2 variants in a Chinese patient who presented with early-onset reduced vision, nyctalopia, and neurological symptoms.Based on the ocular phenotype and provisional diagnosis of rod-cone dystrophy, genetic testing was pursued. Peripheral blood DNA extraction was carried out with the next-generation sequencing technique, which involved a population-specific medical exome virtual panel. Pre- and post-test counseling were carried out by clinical geneticists.Homozygous missense variants in PANK2 {NM_153638.3}:c.655 GA (p.(Gly219Ser)) and OCA2{NM_025160.6}:c.1327 GA(p.(Val443Ile)) were identified. The molecular diagnoses of pantothenate kinase associated neurodegeneration (OMIM#234200) and albinism, oculocutaneous, type II (OMIM#203200) were supported by clinical findings.Two rare autosomal recessive diseases, pantothenate kinase-associated neurodegeneration (PKAN) and oculocutaneous albinism (OCA) were detected in our patient. Ocular and systemic manifestations, as well as neuroimaging findings were compatible with the diseases identified. Genetic analysis is imperative in making an accurate molecular diagnosis in these rare conditions to allow timely counseling, disease prognostication and management.
- Published
- 2022
3. Laser-induced ocular injury: a narrative review
- Author
-
Robert Fung Lam, Frank H. P. Lai, Eva Wai Nam Wong, and Anthony Chuk-him Lai
- Subjects
medicine.medical_specialty ,Intraocular hemorrhage ,genetic structures ,business.industry ,medicine.disease ,eye diseases ,Eye injuries ,03 medical and health sciences ,0302 clinical medicine ,Choroidal neovascularization ,030221 ophthalmology & optometry ,medicine ,Narrative review ,sense organs ,Epiretinal membrane ,medicine.symptom ,Intensive care medicine ,Surgical treatment ,business ,Macular hole ,030217 neurology & neurosurgery ,Retinopathy - Abstract
There is an increasing trend of reported laser-induced ocular injury. We aimed to review theliterature on the basic principles of laser, clinical management and safety precaution of laser-induced ocular injury. A literature search on the PubMed database was conducted to include articles dated up to April 2020. One example case of laser-induced ocular injury is provided. Clinical presentation of laser-induced ocular injury is variable. The clinical features can be transient and subtle. Appropriate investigations are useful to establish a diagnosis and to evaluate the severity of the injury. Laser-induced ocular injury most commonly involves the macula, which can be complicated by intraocular haemorrhage, macular hole, epiretinal membrane, and choroidal neovascularization. There are currently no evidence-based or well-recognized treatments for laser-induced retinopathy. Surgical intervention might be considered if there is significant intraocular hemorrhage or macular hole. Laser-induced ocular injury may cause permanent visual sequelae and functional disability. Diagnosis of an eye injury should be supported by objective clinical findings and/or appropriate investigations. As medical and surgical treatment options are currently limited, the key to combat laser ocular injuries lies in prevention and awareness of the general public should be reinforced.
- Published
- 2020
- Full Text
- View/download PDF
4. Endoscopic vitreoretinal surgery: Review of current applications and future trends
- Author
-
Eva Wai Nam Wong, Sui Chien Wong, Robert Fung Lam, Thomas C. Lee, Aaron Nagiel, Wai Ching Lam, and Frank H. P. Lai
- Subjects
medicine.medical_specialty ,Endoscope ,Neovascular glaucoma ,Ocular trauma ,Vitreoretinal Surgery ,03 medical and health sciences ,0302 clinical medicine ,Endophthalmitis ,Retinal Diseases ,Vitrectomy ,medicine ,Humans ,Child ,Retrospective Studies ,medicine.diagnostic_test ,business.industry ,Retinal Detachment ,Retinal detachment ,Endoscopy ,Vitreoretinal surgery ,medicine.disease ,Posterior segment of eyeball ,Ophthalmology ,030221 ophthalmology & optometry ,Radiology ,business ,030217 neurology & neurosurgery - Abstract
Endoscopy provides unique optical properties to circumvent anterior segment opacities and visualize difficult-to-access anatomical regions, including retroirideal, retrolental, ciliary body, and anterior retinal structures. We summarize the basic principles and utilization of endoscopic vitreoretinal surgery, along with recent technological advances in the field base on a structured literature search in Pubmed, Embase, and Google Scholar database up to February, 2020. Endoscopy has been used in the management of retinal detachment, ischemic retinopathies with neovascular glaucoma, severe ocular trauma, endophthalmitis, lens-related disorders in the posterior segment, pediatric vitreoretinal diseases, and implantation of retinal prostheses. Ongoing development of endoscopic technology aims to provide higher resolution images with endoscopes of smaller diameter. New surgical techniques supported by the adoption of endoscopy are available to manage challenging surgical scenarios. Endoscopy can be a useful adjunct to microscope wide-angle viewing systems in the management of complex vitreoretinal diseases.
- Published
- 2020
5. Massage gun-induced ocular injury – A case report
- Author
-
Eva Wai Nam Wong, Frank H. P. Lai, and Anthony Chuk-him Lai
- Subjects
medicine.medical_specialty ,Massage ,Visual acuity ,genetic structures ,business.industry ,medicine.medical_treatment ,Iris atrophy ,Phacoemulsification ,Multifocal intraocular lens ,eye diseases ,Phacodonesis ,medicine.anatomical_structure ,Blurred vision ,Lens (anatomy) ,Ophthalmology ,medicine ,sense organs ,medicine.symptom ,business - Abstract
A 30-year-old man presented to the ophthalmology clinic with a 1-week history of right eye blurred vision. He reported application of massage gun over bilateral periocular regions for 3 months. The best-corrected visual acuity was 20/25 in the right eye and 20/20 in the left eye. Slit-lamp examination revealed bilateral iris atrophy at the inferonasal region. In the right eye, there was anterior subcapsular and cortical cataract at the visual axis, associated with mild phacodonesis. There were dot opacities in the left eye lens without lens subluxation. The patient received right phacoemulsification with a multifocal intraocular lens implanted. To the best of our knowledge, this is the first case of bilateral traumatic cataract with symmetrical iris atrophy after repetitive periocular massage with a massage gun reported in the literature.
- Published
- 2021
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.