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Background: Retinal hamartoma is a common finding in tuberous sclerosis, but the symptomatic changes of this lesion have rarely been described. This evidence-based review evaluated the incidence of symptomatic retinal hamartoma and compared possible treatment modalities. Methods: We carried out a review of the literature using MEDLINE. Older publications not listed in MEDLINE were obtained from the reference list of currently published papers. Results: Three observational case series with a follow-up of up to 34 years included 93 patients and reported progression from a flat to a more elevated lesion without visual symptoms in nine patients (9.7%). Additional symptomatic changes were described in 11 case reports published over a period of three decades. The symptomatic alterations were caused by an enlarged tumour with leakage, macular oedema, accumulating lipoid exudates, serous retinal detachment ( n = 8/11) and vitreous haemorrhage ( n = 4/11). Most symptomatic cases involved a retinal hamartoma type 1 ( n = 6/8). Spontaneous resolution of symptomatic exudative hamartomas occurred in three patients within 4 weeks, although a delayed resorption of subretinal fluid caused permanent visual impairment in one patient. Investigational reports described a slow resorption of subretinal fluid after argon laser photocoagulation ( n = 2), although recurrent laser applications induced choroidal neovascularization and destruction of the neurosensory retina ( n = 1). A vitrectomy was used to remove a vitreous haemorrhage in another reported patient. In one case, complete resorption of subretinal fluid and an increase in visual acuity was observed within 2 weeks after a single treatment with photodynamic therapy (PDT). No complications were noted during a follow-up of 4 years. Conclusions: Symptomatic changes are very rare in retinal hamartomas secondary to tuberous sclerosis. Spontaneous resolution of subretinal fluid may occur within 4 weeks. If a macular oedema with increasing lipoid exudates persists over a period of 6 weeks, treatment should be considered. Although previous reports demonstrated possible visual stabilization after argon laser photocoagulation, vision-threatening complications can occur. Current treatment strategies may include PDT based on favourable anatomical and functional results. [ABSTRACT FROM AUTHOR]

We report the unusual association of a retinal astrocytic hamartoma and Stargardt's disease in a patient with ABCR mutation. A healthy 24-year-old man exhibited the typical fundus appearance of Stargardt's disease in both eyes, associated with a white, well-circumscribed, elevated lesion in the inferotemporal area of the right eye. Molecular genetic examination of the ABCR gene detected three heterozygous missense mutations, described in the literature in association with Stargardt's disease. Optical coherence tomography, fluorangiography, electroretinography and B scan ultrasonography were performed. The clinical findings were consistent with the diagnosis of retinal astrocytic hamartoma. The connection between Stargardt's disease and this tumour has never been previously reported. The astrocytic hamartoma of our patient showed unusual clinical features. This association is probably incidental. [ABSTRACT FROM AUTHOR]