Retinoblastoma and Retinal Presentations Flashcards
What are retinoblastomas?
Most common primary intraocular tumour in children. 5% occur with a pineal or other tumour. Secondary malignancies such as osteosarcoma and rhabdomyosarcoma are common and leading cause of death. Multiple tumours are common at presentation.
How does retinoblastomas present?
Strabismus
Visual problems
Leukocoria (white pupil) – pictures with only one red eye
What causes retinoblastoma?
Non hereditary retinoblastoma
Autosomal dominant
Hereditary retinoblastoma – RB gene (tumour suppressor)
How are retinoblastomas managed?
Chemotherapy – used in bilateral tumours
Enucleation – required with large tumours, retinal detachment, optic nerve invasion and extrascleral extension.
Radio or brachytherapy
Adequate genetic counselling and sibling screening
What is retinitis pigmentosa?
Most common inherited condition of the retina as a result of rod photoreceptor problems, the condition progresses to cones eventually causing complete blindness.
Can be inherited autosomal dominant or recessive or X-linked with over 300 genes being linked to the condition.
How does retinitis pigmentosa present?
Mostly affecting males causing bilateral night blindness followed by peripheral and central daytime vision loss. Patients present with tunnel vision.
How does retinitis pigmentosa appear on fundoscopy?
Fundoscopy: black bone spicule-shaped pigmentation in the peripheral retina, mottling of the retinal pigment epithelium
What is photopsia?
Flashes
What is photopsia a sign of?
Lots of these may indicate the moment of a tear or detachment. Can also be cerebral pathology such as in migraine.
What can lots of floaters suggest?
Lots of these suggest blood or pigment released into vitreous. Can also be anything that results in new vessels to form on the retina such as diabetic retinopathy or central retinal vein occlusion. Can also be due to white blood cells from inflammation.
More sinister causes include malignant tumour seeding such as melanoma or retinoblastoma or secondary metastasis.
What would a sudden shower of black marks suggest?
Sudden shower of black marks suggests a vitreous haemorrhage these should be referred urgently to an ophthalmologist.
What is a posterior vitreous attachment?
This occurs as a result of degenerative changes in the vitreous that causes it to detach from the retina. Usually peripheral and monochromatic flashes and floaters. 5% of these will go onto retinal detachment. All that needs to be done is a check of the fundus for retinal tears.
Differentiate between the presentation of posterior vitreous detachment, retinal detachment and vitreous haemorrhage
Posterior vitreous detachment
Flashes of light (photopsia) - in the peripheral field of vision
Floaters, often on the temporal side of the central vision
Retinal detachment
Dense shadow that starts peripherally progresses towards the central vision
A veil or curtain over the field of vision
Straight lines appear curved
Central visual loss
Vitreous haemorrhage
Large bleeds cause sudden visual loss. Moderate bleeds may be described as numerous dark spots
Small bleeds may cause floaters
