Related Experiment Video
Updated: Apr 5, 2026
05:46
Implantation and Evaluation of Melanoma in the Murine Choroid via Optical Coherence Tomography
Published on: December 2, 2022
2.3K
Congenital uveal melanoma?
Arun D Singh1, Lynn A Schoenfield2, Boris C Bastian3
1Department of Ophthalmic Oncology, Cole Eye Institute, Cleveland, Ohio, USA.
Survey of Ophthalmology
|August 17, 2015
Summary
This case presents a rare infant uveal melanoma with extraocular extension. Genetic analysis did not identify known mutations, suggesting a novel melanocytic proliferation.
Area of Science:
- Ophthalmology
- Oncology
- Genetics
Background:
- Uveal melanoma is rare in infants.
- Early diagnosis and treatment are crucial for prognosis.
Observation:
- A 3-month-old infant presented with left eye discoloration and enlargement.
- Examination revealed hyperchromic heterochromia, enlarged cornea, and a large ciliochoroidal pigmented mass.
- The diagnosis was diffuse uveal melanoma with extraocular extension.
Findings:
- The infant's tumor showed no mutations in key genes (BAP1, BRAF, NRAS, GNAQ, Kit).
- Germline BAP1 mutation was also absent.
- No metastases were detected during 5 years of follow-up.
Implications:
- This case may represent a previously unidentified uveal melanocytic proliferation.
- Further research is needed to understand the pathogenesis of such rare infant tumors.
- Genetic analysis is essential for accurate diagnosis and understanding of uveal melanoma variants.
Related Concept Videos
01:20The Retinoblastoma Gene
4.9K
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,...
4.9K
01:20The Retinoblastoma Gene
2.9K
2.9K
01:30Skin Cancer
6.6K
Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
6.6K
01:25Glaucoma: Overview
1.7K
Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
1.7K
01:22Photoreceptors and Visual Pathways
11.1K
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,...
11.1K
01:28Angle Closure Glaucoma: Treatment
1.7K
Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...
1.7K