Non-cancerous retinal tumors, known as retinal astrocytic hamartomas (RAH), are comprised of glial cells. They are most commonly discovered in people with tuberous sclerosis complex (TSC) as asymptomatic lesions. The majority of RAH is assumed to be congenital, but it may not manifest clinically until later in life.
Patients with tuberous sclerosis complex are more likely to develop astrocytic hamartomas. The signs and symptoms of tuberous sclerosis can appear as early as infancy. Alternatively, the initial indications and symptoms could appear in childhood or even years later in adults. These tumors can be single or numerous, creamy-white in appearance, and have calcified regions.
A retinal astrocytic hamartoma is commonly associated with TS, however, it can also occur as an idiopathic lesion. It is critical to seek a prompt consultation to rule out TS or other systemic causes, particularly in young infants.
Neuroimaging, in combination with other diagnostic procedures, may help to assure effective care and eliminate the need for further investigation. Spontaneous lesions without a systemic cause should be cautiously observed at first to rule out the possibility of progression. After establishing stability, an annual visit to a primary care eye practitioner is recommended.
The majority of RAH is modest and non-progressive, requiring only frequent monitoring. A serial ophthalmoscopic examination is required to detect lesions that are exhibiting aggressive growth behavior or posing a hazard to eyesight.
The majority of tumors are benign and do not require medication throughout existence. Tuberous sclerosis complex is not linked to acquired retinal astrocytomas, which can occur at any age. Acquired retinal astrocytomas are typically isolated and yellowish-white, progressing to exudative retinal detachment.
Reactive retinal astrocytic tumors, also known as retinal vasoproliferative tumors, are pink-yellow lesions that grow in the inferotemporal quadrant of the peripheral fundus and are frequently associated with exudation and vision loss.
The most well-known ocular characteristic of TSC is RAH, which has been classified into three morphologic subtypes. The occurrence of many RAHs is significant enough to be considered a key diagnostic characteristic.
Astrocytic Hamartoma Symptoms
The extent and location of the Astrocytic Hamartoma determine the symptoms. The following are the certain symptoms of Astrocytic Hamartoma:
- Glial tumors of the optic nerve or retina can be observed.
- The first view of these Astrocytic Hamartoma lesions appears to be grey, flat, and translucent.
- Patches of thick leathery dimples.
- Sebaceum adenoma.
- Fibroids of the ungual.
- Fibromas of the gums.
- Cognitive impairment.
- Challenges in growth, behaviour, or psychosocial.
- Cortical tubers.
- Astrocytoma with giant cells.
- Nodules in the subependymal layer.
- Discoloration of the skin.
- Kidney issues.
- Heart problems.
- Lung issues.
- Vision issues.
Astrocytic Hamartoma Causes
Gliomas that appear as nodular masses at or around the optic disc are known as optic disc gliomas. They are usually white and opaque or translucent, and they are frequently calcified. One of the causes of this acute disease is the Tuberous sclerosis complex. These tumors exhibit different degrees of vascularization and often exhibit late-phase hyper-fluorescence with vitreous leaking on fluorescein angiograms.
Complications of astrocytic hamartomas include vitreous hemorrhage, which is hypothesized to be caused by vascular growth within the lesion, and the development of a choroidal neovascular membrane along the lesion’s margin.
Astrocytic Hamartoma Diagnosis
The diagnosis of Astrocytic hamartoma is primarily clinical, but it may be aided by auxiliary tests. Retinal abnormalities are highly related to chronic neurological and renal illness in tuberous sclerosis. RAH growth or consequences that necessitate treatment are uncommon.
Astrocytic Hamartoma Treatment
The occasional consequences associated with RAH may necessitate treatment. Intravitreal ranibizumab is successful in treating CNVM, resulting in fluid closure and resolution, following a brief course of injections.
Exudative retinal detachments that do not resolve spontaneously may benefit from laser photocoagulation, but the prognosis for vision improvement is uncertain. The following are some of the treatments recommended for Astrocytic Hamartoma:
- Intravitreal anti-vascular endothelial growth factor injections.
- Plaque brachytherapy.
- Photodynamic therapy.
It is especially critical that the patient be tested for tuberous sclerosis and neurofibromatosis, as these are the most prevalent systemic correlations of astrocytic hamartomas. The typical trifecta of seizures, face angiofibroma, and developmental retardation can be used to diagnose tuberous sclerosis, however, it only occurs in about 30% of cases. Astrocytic hamartomas are common in children, and the lesions are commonly bilateral or multifocal.
The other treatments that help in the diagnosis of these nodules are MRI and CT scans. Hence after knowing the severity of the disease one should get treated immediately after the diagnosis has been made by the doctors.