Loss of red reflex

Loss of red reflex is a relatively uncommon finding but is a critical sign that can indicate serious ocular pathology.
It is more commonly identified in pediatric populations during routine eye examinations but can occur in adults as well.
Early detection is crucial, particularly in children, where conditions such as retinoblastoma or congenital cataracts are more prevalent.
In the UK, all newborns and infants undergo routine screening for red reflex, which helps in early identification of ocular abnormalities.
Conditions leading to loss of red reflex are typically rare but carry significant morbidity if not promptly diagnosed and managed.

Pediatric Causes

Retinoblastoma: A malignant tumor of the retina, often presenting with leukocoria (white pupillary reflex) and strabismus.
Congenital Cataracts: Opacification of the lens, leading to an absent or diminished red reflex, often noted soon after birth.
Persistent Fetal Vasculature: A congenital anomaly where remnants of the fetal blood supply to the eye persist, leading to loss of red reflex.
Coats’ Disease: A rare condition involving retinal telangiectasia and exudation, leading to retinal detachment and leukocoria.
Toxocariasis: A parasitic infection that can cause granulomas in the retina, leading to loss of red reflex and vision impairment.
Retinopathy of Prematurity: Occurs in premature infants, particularly those with very low birth weight, leading to abnormal blood vessel development in the retina and potential red reflex loss.
Congenital Glaucoma: Elevated intraocular pressure present at birth can lead to corneal edema and loss of red reflex.

Adult Causes

Cataracts: The most common cause of red reflex loss in adults, characterized by the opacification of the lens.
Vitreous Hemorrhage: Bleeding into the vitreous humor can obscure the red reflex and lead to vision loss.
Retinal Detachment: Separation of the retina from the underlying tissue can cause a loss of red reflex and is often accompanied by visual disturbances.
Intraocular Tumors: Melanomas or metastatic tumors within the eye can cause loss of the red reflex.
Corneal Opacities: Scarring or clouding of the cornea can lead to a diminished or absent red reflex.
Advanced Glaucoma: Can lead to optic nerve damage and subsequent loss of red reflex if the cornea or lens is also affected.
Hyphema: Blood in the anterior chamber of the eye can obscure the red reflex.
Uveitis: Inflammation of the uveal tract can lead to vitreous haze or cataracts, affecting the red reflex.
Endophthalmitis: Severe intraocular infection that can lead to loss of the red reflex due to pus or inflammatory debris in the vitreous humor.

Background

Onset: Determine whether the loss of red reflex was gradual or sudden, as this can help differentiate between causes such as cataracts (gradual) and retinal detachment (sudden).
Associated Symptoms: Inquire about associated symptoms such as visual disturbances, floaters, flashes of light, pain, or redness, which may indicate underlying conditions like retinal detachment or uveitis.
Previous Eye Conditions: Ask about any history of eye trauma, previous surgeries, or known eye conditions such as glaucoma, which could predispose to certain causes of red reflex loss.
Family History: Consider any family history of ocular conditions, particularly those with a genetic component such as congenital cataracts or retinoblastoma.
Systemic Symptoms: Assess for symptoms of systemic illness, such as headache, nausea, or fever, which could indicate conditions like endophthalmitis or uveitis.
Medication History: Review medications that could predispose to eye conditions, including corticosteroids (risk of cataracts) or anticoagulants (risk of vitreous hemorrhage).
Developmental History (in children): In pediatric cases, ask about developmental milestones and any concerns related to vision or eye alignment.
Environmental Exposures: Consider any exposure to toxins or infections that might contribute to ocular conditions.

Clinical Examination

Red Reflex Examination: A key part of the eye examination, typically performed using an ophthalmoscope. Loss of reflex is a significant finding that requires further investigation.
Visual Acuity Testing: To assess the impact of the underlying condition on vision.
Pupillary Reflexes: Abnormalities in the pupillary light reflexes can indicate optic nerve or retinal pathology.
Slit-Lamp Examination: Provides a detailed view of the anterior and posterior segments of the eye, useful in diagnosing cataracts, corneal opacities, and uveitis.
Fundoscopy: Essential for visualizing the retina, optic disc, and vitreous, particularly in cases of suspected retinal detachment or tumors.
Intraocular Pressure Measurement: To assess for glaucoma, which can be associated with loss of red reflex.
B-Scan Ultrasound: Useful if the view to the retina is obscured by cataracts or vitreous hemorrhage, allowing assessment of retinal detachment or tumors.
Fluorescein Angiography: Helps in evaluating retinal and choroidal blood vessels, particularly in cases of retinal detachment or vascular tumors.

Imaging and Laboratory Tests

CT or MRI of the Orbit: Indicated if an intraocular tumor, orbital mass, or significant trauma is suspected.
Blood Tests: CBC, CRP, and ESR if systemic infection or inflammation is suspected, such as in endophthalmitis or uveitis.
Genetic Testing: Consider in cases of suspected retinoblastoma or congenital cataracts with a known family history.
Ocular Coherence Tomography (OCT): Provides detailed imaging of the retina and optic nerve, particularly useful in retinal detachment and macular diseases.
Electroretinography: Can be useful in assessing retinal function, particularly in cases of congenital retinal conditions.

Child health