Cancer-associated retinopathy

What it is

From: Orphanet

A rare paraneoplastic disease of the eye characterized by the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Adult-onset night blindness · Frequent (79-30%)

Inability to see well at night or in poor light with onset in adulthood.

Anti-recoverin antibody positivity · Frequent (79-30%)

The presence of autoantibodies in the serum that react against recoverin. Recoverins are calcium-binding proteins primarily expressed in retinal rod photoreceptors and primarily involved in phototransduction.

Autoimmune antibody positivity · Frequent (79-30%)

The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.

Electronegative electroretinogram · Frequent (79-30%)

A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave.

Female reproductive system neoplasm · Frequent (79-30%)

A neoplasm that affects the female reproductive system.

Malignant genitourinary tract tumor · Frequent (79-30%)

The presence of a malignant neoplasm of the genital system.

Neoplasm of the breast · Frequent (79-30%)

A tumor (abnormal growth of tissue) of the breast.

Photophobia · Frequent (79-30%)

Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.

Photopsia · Frequent (79-30%)

Perceived flashes of light.

Small cell lung carcinoma · Frequent (79-30%)

Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly.

Visual loss · Frequent (79-30%)

Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).

Progressive visual field defects · Frequent (79-30%)

Reduced visual acuity · Frequent (79-30%)

Central scotoma · Occasional (29-5%)

An area of depressed vision located at the point of fixation and that interferes with central vision.

Other findings in the same source

From: Orphanet

Additional reported features include Constriction of peripheral visual field (Occasional (29-5%)); Diffuse cerebellar atrophy (Occasional (29-5%)); Dyschromatopsia (Occasional (29-5%)); Granular macular appearance (Occasional (29-5%)); Hematological neoplasm (Occasional (29-5%)); Hodgkin lymphoma (Occasional (29-5%)); Optic disc pallor (Occasional (29-5%)); Retinal atrophy (Occasional (29-5%)); Retinal pigment epithelial atrophy (Occasional (29-5%)); Testicular neoplasm (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adult

Inheritance in the source

From: Orphanet

Not applicable

Frequency and the population described

From: Orphanet

Point prevalence: Unknown; Worldwide; Class only.

Which doctor should you see?

The suggested department for discussing Cancer-associated retinopathy is Ophthalmology, with a ophthalmologist as the relevant type of clinician. Ophthalmologist; paediatric services for children as appropriate.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which part of the eye or visual pathway is affected?
• What change in vision requires immediate contact with the eye service?
• What are the aims and alternatives of any proposed eye treatment?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Cancer-associated retinopathy. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.