Current treatment modalities for exudative retinal hamartomas secondary to tuberous sclerosis: review of the literature

Abstract

ABSTRACT.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 ¼ 8 ⁄ 11) and vitreous haemorrhage (n ¼ 4 ⁄ 11). Most symptomatic cases involved a retinal hamartoma type 1 (n ¼ 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 ¼ 2), although recurrent laser applications induced choroidal neovascularization and destruction of the neurosensory retina (n ¼ 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.

Intravitreal anti‐vascular endothelial growth factor therapy with bevacizumab for tuberous sclerosis with macular oedema

“…Patients with TSC generally develop retinal astrocytic hamartomas; however, clinical symptoms of patients with the retinal hamartomas are generally asymptomatic and most astrocytic hamartomas remain unchanged in size or regress during life (Zimmer-Galler & Robertson 1995). Symptomatic ocular complications rarely present; these include macular oedema, exudative retinal detachment (RD), vitreous haemorrhage (VH) and neovascular glaucoma (Mennel et al 2007). Symptomatic macular oedema or exudative RD has previously been reported in only seven eyes (Mennel et al 2007).…”

“…Symptomatic ocular complications rarely present; these include macular oedema, exudative retinal detachment (RD), vitreous haemorrhage (VH) and neovascular glaucoma (Mennel et al 2007). Symptomatic macular oedema or exudative RD has previously been reported in only seven eyes (Mennel et al 2007). Argon laser photocoagulation or photodynamic therapy against retinal hamartoma may be effective for these complications (Bloom & Mahl 1991;Mennel et al 2007).…”

Tuberous Sclerosis Complex

“…Additional diagnostic categories include probable TSC when one major feature and one minor feature are present, and possible TSC when either one major feature or two or more minor features are present (Hyman, 2000 andRoach, 1998). However, as hamartomas are individually rare in the population without TSC, the presence of hamartomas in two different organ systems is considered by some clinicians to be sufficient for the diagnosis (O'Callaghan, 2000 Multiple, randomly distributed pits in dental enamel (Mennel et al, 2007) Dental pits are pits in the enamel of the permanent teeth. They occur more frequently in individuals with TSC than in people who do not have TSC.…”

“…Shagreen patch (connective tissue nevus) (Schwartz et al, 2007) Slightly Gingival fibromas (Mennel et al, 2007) These small fibrous nodules of the oral cavity are most commonly evident on the gingiva, especially in the anterior segment of the upper jaw but also on the buccal mucosa and dorsal surface of the tongue.…”

Capacidade proliferativa in vitro de precursores neuro-gliais, telencefálicos e expressão dos genes 1 e 2 do Complexo da Esclerose Tuberosa (TSC1 e TSC2)

“…de TSC e podem se apresentar, à oftalmoscopia, desde lesões planas, semi-transparentes àquelas nodulares, frequentemente multinodulares, de aparência sólida (Nyboer et al, 1976;Zimmer-Galler e Robertson, 1995;Mennel S et al, 2007). Embora essas lesões tendem a se manter estáveis, podem evoluir a calcificação, além do raro surgimento de novos hamartomas retinianos.…”