Retinal cavernous hemangioma

What it is

From: Orphanet

Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.

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.

Retinal capillary hemangioma · Frequent (79-30%)

A benign vascular tumor of the retina without any neoplastic characteristics.

Reduced visual acuity · Frequent (79-30%)

Amblyopia · Occasional (29-5%)

Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.

Anisometropia · Occasional (29-5%)

Inequality of refractive power of the two eyes.

Blindness · Occasional (29-5%)

Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.

Blurred vision · Occasional (29-5%)

Lack of sharpness of vision resulting in the inability to see fine detail.

Epiretinal membrane · Occasional (29-5%)

An epiretinal membrane is a thin sheet of fibrous tissue on the surface of the retina along the inner limiting membrane. It appears as a greyish semi-translucent avascular membrane over the internal limiting membrane (ILM) on the surface of the retina.

Glaucoma · Occasional (29-5%)

Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.

Hyphema · Occasional (29-5%)

Bleeding in the anterior chamber of the eye.

Myopia · Occasional (29-5%)

An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.

Pain · Occasional (29-5%)

An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.

Photopsia · Occasional (29-5%)

Perceived flashes of light.

Progressive visual loss · Occasional (29-5%)

A reduction of previously attained ability to see.

Retinal exudate · Occasional (29-5%)

Yellow-white intraretinal deposits in the retina typically associated with damaged inner blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.

Other findings in the same source

From: Orphanet

Additional reported features include Subretinal exudate (Occasional (29-5%)); Vitreous floaters (Occasional (29-5%)); Vitreous hemorrhage (Occasional (29-5%)); Central fundal arteriolar microaneurysms (Occasional (29-5%)); Paracentral scotoma (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

All ages

Inheritance in the source

From: Orphanet

Autosomal dominant

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal dominant pattern means that one altered copy of a relevant gene can be sufficient for the condition. Some affected people inherit the change; others have a new change without an affected parent. The precise finding, family history and condition determine what this means for relatives.

Which doctor should you see?

The suggested department for discussing Retinal cavernous hemangioma 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 Retinal cavernous hemangioma. 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.