Retinoblastoma (RB) is the most common intraocular primary malignancy for infants and young children. The tumor is bilateral in 40% of cases and unilateral in 60% of cases. The hereditary form is due to a germinal mutation in the RB1 tumor suppressor gene.
View Article and Find Full Text PDFAnn Med Surg (Lond)
April 2022
Introduction: Prostate carcinoma metastasizes usually to lymph nodes and bone. Its metastases to the orbital cavity remain very rare.
Observation: We report here the case of an 80-year-old man diagnosed with a non-metastatic prostate adenocarcinoma 9 months earlier, who was found to have an orbital metastasis revealed by a proptosis of his left eye.
Introduction: In 1916, Leber's idiopathic stellate neuroretinitis (LISN) was described by Theodore Leber as a rare disease characterized by optic disc swelling associated with a macular star. This fundus appearance can have multiple causes but the etiology of Leber's idiopathic stellate neuroretinitis remains unknown.
Case Report: A 40 year-old man consulted for a progressive decline in visual acuity and a blurred vision in his left eye.
Introduction: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disorder characterized by complex orbito-palpebral anomalies. We report a rare case of BPES associated with bilateral congenital cataract.
Observation: This study reports the case of a 6-month-old infant with BPES in whom a bilateral congenital cataract was diagnosed, after the parents noticed leukocoria and signs of poor vision in their child.
Introduction: Von Hippel-Lindau disease (VHL), also known as Von Hippel-Lindau syndrome, is a rare genetic disorder with multisystem involvement. It is characterised by the development of multiple vascularised tumours, particularly cerebellar, retinal and/or visceral. The disease can occur at any age and usually starts with retinal hemangioblastomas.
View Article and Find Full Text PDFAnn Med Surg (Lond)
February 2022
Introduction: Sclerochoroidal calcifications is a rare condition corresponding to senile plaques due to the deposition of calcium and phosphate in the sclera and choroid. It is an elderly patient's pathology. In most cases, it is idiopathic.
View Article and Find Full Text PDFInt J Surg Case Rep
January 2022
Introduction: Ocular rosacea is a multifactorial disease. Its pathophysiology remains unclear. The ocular manifestations of rosacea are not specific and can range from simple blepharoconjunctivitis to sight-threatening such as corneal perforation.
View Article and Find Full Text PDFEur J Ophthalmol
November 2021
Primary congenital glaucoma (PCG) is a rare and severe form of glaucoma and is usually transmitted as an autosomal-recessive disease. However, PCG is more common in certain ethnic and geographic groups where consanguineous relationships are common. The importance of this review is to inspect the mutations in the cytochrome P450 1B1 gene (CYP1B1) and to highlight the interest of the genetic study of CYP1B1 mutations.
View Article and Find Full Text PDFRetinoblastoma is the most common malignant tumor of the eye in children (incidence:1/15,000 to 1/20,000 births), with a sex ratio of 1,5/1. Retinoblastoma, in its inherited form, is a disease caused by a syndrome of genetic predisposition to cancer. The RB1 gene, a tumor suppressor gene, is localized at 13q14.
View Article and Find Full Text PDFMolluscums contagiosum (MC) are benign skin lesions caused by Molluscipoxvirus, primarily affecting children and young adults. They manly involve the skin and rarely the mucous membranes. Clinical diagnosis is easy, confirmed by histological examination of the lesion.
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