Título / Title

LATE DIAGNOSIS OF GRONBLAD-STRANDBERG SYNDROME

Introdução / Purpose

45-years-old male patient, complains a decrease of visual acuity in both eyes started 20 days earlier, refers previous treatment for toxoplasmosis uveitis and after the episode maintained a blurred vision associated with a metamorphopsia in left eye, denied others relevance records. Visual acuity: 20/40 in the right eye and counting fingers at 1 meter in the left eye. Fundoscopy observed a bilateral angioid streaks, Peau d’orange in temporal macula in left eye and subretinal neovascularization with signs of activity as seen on fluorescein angiography and optical coherence tomography (OCT) in both eyes. After diagnosis of angioid streaks, patient received a dermatological evaluation that confirmed pseudoxanthoma elasticum (PXE) with skin biopsy. The patient was treated with intravitreal injection of antiangiogenic agents (ranibizumab) and multidisciplinary follow up.

Material e Método / Methods

The information was obtained through interview of the patient, detailed ophthalmologic examination, as well as OCT, fluorescein angiography and retinography.

Resultados / Results

To report a case of late diagnosis of Grönblad-Strandberg syndrome misdiagnosed as toxoplasmosis

Discussão e Conclusões / Conclusion

The PXE is a hereditary disorder of connective tissue, characterized by fragmentation of elastic fibers in dermis, vessels, heart, gastrointestinal tract and Bruch’s membrane. PXE is the most common cause of angioid streaks with systemic manifestation, which usually manifest with dermatological, cardiovascular, genitourinary and neurological disorders.
Approximately 85% of patients develop ophthalmic disorders, and the ophthalmology treatment is variable, from the follow-up of initial cases in asymptomatic patients to laser photocoagulation, photodynamic therapy and intravitreal injection of antiangiogenic agents in patients with subretinal neovascular membrane.
The early diagnosis of Grönblad-Strandberg syndrome is important for ophthalmological treatment also investigation of systemic disorders and multidisciplinary approach.

Palavras Chave

angioid streaks, pseudoxanthoma elasticum

Area

CLINICAL RETINA