Related Experiment Video
Updated: Jul 7, 2026
07:43
Subretinal Transplantation of Human Embryonic Stem Cell-Derived Retinal Tissue in a Feline Large Animal Model
Published on: August 5, 2021
1.9K
Rare pediatric retinal diseases: A review
Anand Vinekar1, Wei-Chi Wu2, Birgit Lorenz3
1Department of Pediatric Retina, Narayana Nethralaya Eye Institute, Bengaluru, Karnataka, India.
Indian Journal of Ophthalmology
|April 24, 2025
Summary
This review details rare pediatric retinal disorders, emphasizing the need for early diagnosis and management. Advanced diagnostics like genetic testing aid in improving visual outcomes for affected children.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Rare pediatric retinal disorders pose diagnostic and management challenges due to low prevalence and varied symptoms.
- These conditions significantly impact children's visual function and quality of life during critical developmental stages.
Purpose of the Study:
- To comprehensively review select rare retinal disorders in children.
- To elucidate distinct features, challenges, epidemiology, clinical characteristics, diagnostics, and therapeutics.
- To highlight the importance of increased awareness for timely intervention.
Main Methods:
- Systematic literature review of current research and clinical case studies.
- Searches conducted across PubMed, Google Scholar, and Cochrane Library databases.
- Inclusion of relevant review articles, original research, case series, and reports, without date restrictions.
Main Results:
- Identified key diagnostic modalities including fundus fluorescein angiography, optical coherence tomography, electroretinography, and genetic testing.
- Highlighted the crucial role of these advanced techniques in understanding and managing rare pediatric retinal disorders.
- Emphasized the need for heightened awareness and early intervention strategies.
Conclusions:
- Early diagnosis and appropriate management are vital for improving visual outcomes in children with rare retinal disorders.
- Advancements in diagnostic technologies significantly enhance the understanding and treatment of these conditions.
- Continued research and clinical awareness are essential for addressing the challenges posed by rare pediatric retinal diseases.
Related Concept Videos
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:22Photoreceptors and Visual Pathways
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category, whereas...
01:27Diabetic Retinopathy
DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...