ConditionEyes & vision
Retinal Hamartoma
A retinal hamartoma is a benign (non-cancerous) growth made of cells normally found in the retina, arranged in a disorganized way. The most common type, the retinal astrocytic hamartoma, is strongly associated with tuberous sclerosis complex and less often with neurofibromatosis. Most cause no symptoms, are found on routine or screening eye exams, and stay stable for life. They rarely need treatment, but they must be distinguished from retinoblastoma and other tumors.
Also called: Retinal astrocytic hamartoma, astrocytic hamartoma of the retina, combined hamartoma of the retina and RPE, congenital simple hamartoma of the RPE
At a glance
- What it is
- A benign, disorganized growth of retinal cells.
- Main types
- Astrocytic hamartoma; combined hamartoma of the retina and retinal pigment epithelium (RPE); simple RPE hamartoma.
- Associations
- Tuberous sclerosis complex (about half of patients); NF1 and NF2 for some types.
- Symptoms
- Usually none; sometimes blurred vision, distortion, squint or floaters.
- Diagnosis
- Dilated eye exam, retinal photos, OCT, ultrasound, autofluorescence.
- Treatment
- Usually observation; rarely laser, injections or surgery for complications.
When to get help
See a doctor within a day or two
- A white pupil or a new squint in a child (to rule out retinoblastoma)
- Sudden loss of vision, a shower of new floaters or a curtain over vision
Book a routine appointment
- Blurred or distorted vision in someone with a known retinal hamartoma
- A diagnosis of tuberous sclerosis complex or neurofibromatosis (baseline eye exam)
- A retinal lesion seen on a routine exam that needs specialist evaluation
Types of retinal hamartoma
| Type | Appearance | Associations |
|---|---|---|
| Astrocytic hamartoma | Flat, translucent gray-white lesion, or raised calcified "mulberry" lesion near the optic nerve | Tuberous sclerosis complex; occasionally neurofibromatosis; sometimes isolated |
| Combined hamartoma of the retina and RPE | Slightly raised, dark gray lesion with traction and twisted vessels, often near the optic nerve or macula | Neurofibromatosis type 2, sometimes NF1 |
| Congenital simple hamartoma of the RPE | Small, jet-black, raised spot near the macula | Usually isolated |
Who gets them
- Tuberous sclerosis complex (TSC): about half of people with TSC have retinal astrocytic hamartomas, often in both eyes. They are one of the major diagnostic features of TSC.
- Neurofibromatosis: combined hamartomas are associated with NF2 and occasionally with NF1.
- Isolated: some people have a single hamartoma with no associated condition.
Symptoms
Most retinal hamartomas cause no symptoms and are found during eye exams. When symptoms occur, they depend on location:
- blurred or reduced central vision, if the lesion involves the macula
- distorted vision from traction (pulling) on the retina
- floaters from bleeding into the vitreous (rare)
- strabismus (squint) or reduced vision in a child
- leukocoria (a white pupil reflex), particularly with large calcified lesions
Diagnosis
An ophthalmologist, often a retina or ocular oncology specialist, diagnoses retinal hamartomas with:
- dilated fundus examination
- fundus photography for baseline comparison
- optical coherence tomography (OCT): shows the lesion's layers and any fluid or traction
- fundus autofluorescence: calcified astrocytic hamartomas glow brightly
- ultrasound: shows calcification
- fluorescein angiography in selected cases
Hamartoma vs retinoblastoma
In children, a calcified white retinal lesion can resemble retinoblastoma, a malignant eye cancer. Retinoblastoma tends to grow, has prominent feeding vessels and may seed into the vitreous, whereas hamartomas are stable. Specialist evaluation and follow-up imaging distinguish them. Any child with a white pupil needs urgent assessment.
Evaluation for associated conditions
Finding an astrocytic hamartoma may prompt evaluation for TSC, including skin examination (ash-leaf spots, facial angiofibromas), brain MRI, kidney imaging and genetic testing. A combined hamartoma may prompt evaluation for NF2.
Treatment
Most retinal hamartomas need no treatment, only periodic monitoring. Treatment is considered for complications:
- macular fluid or edema: anti-VEGF injections, laser or photodynamic therapy
- retinal traction or epiretinal membrane (combined hamartoma): vitrectomy surgery in selected cases
- vitreous hemorrhage: observation or surgery
- amblyopia in children: glasses and patching
- aggressive astrocytic hamartomas (rare): may grow and cause retinal detachment or glaucoma; treatments include laser, photodynamic therapy and, in TSC, mTOR inhibitors such as everolimus have been reported to shrink lesions
Outlook
Most retinal hamartomas remain stable throughout life with no effect on vision. Combined hamartomas are more likely to affect vision through traction. Regular eye exams, typically yearly for people with TSC, catch changes early.
Frequently asked questions
What is a retinal hamartoma?
A retinal hamartoma is a benign growth made of normal retinal cells arranged in a disorganized way. It is not cancer and usually does not grow or spread. Many are found incidentally on eye exams.
Is a retinal hamartoma cancer?
No. Retinal hamartomas are benign. However, in children, some can look similar to retinoblastoma, an eye cancer, so specialist evaluation and follow-up imaging are important to confirm the diagnosis.
What is the link between retinal hamartomas and tuberous sclerosis?
About half of people with tuberous sclerosis complex have retinal astrocytic hamartomas, often in both eyes. They are one of the major diagnostic criteria for TSC, so finding one may prompt evaluation for the condition.
Do retinal hamartomas affect vision?
Usually not. Most cause no symptoms. Hamartomas near the macula or those causing traction, swelling or bleeding can blur or distort vision and may need treatment.
How are retinal hamartomas treated?
Most need only regular monitoring. Complications such as fluid under the retina, traction or bleeding may be treated with injections, laser, photodynamic therapy or surgery. Rare aggressive lesions may need more intensive treatment.
Sources
This guide was written from current patient and clinical guidance, including:
- American Academy of Ophthalmology: EyeWiki, astrocytic hamartoma of the retina
- Tuberous Sclerosis Complex International Consensus Group: Surveillance and management recommendations
- National Eye Institute: Retinal diseases
- Ocular Oncology Service, Wills Eye Hospital: Retinal tumors patient information
- MedlinePlus Genetics: Tuberous sclerosis complex