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Efthymia Tsina, Eleni Tsitsami, Maria Kanariou, Athanasios Michos; Hereditary Retinal Dystrophies as Masquerade Syndromes. Invest. Ophthalmol. Vis. Sci. 2014;55(13):1434.
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To present a series of misdiagnosed inflammatory and autoimmune conditions initially diagnosed as hereditary retinal dystrophies and to investigate possible common underlying mechanisms.
Ten patients aged from seven to fifty years old underwent thorough eye examination including fluorescein angiography, optical coherence tomography and detailed electrophysiology, clinical examination, laboratory work-up and DNA testing.
Patients initial diagnoses were X-linked retinoschisis, retinitis pigmentosa, Best and adult vitelliform dystrophy and Stargardt disease. They finally proved to suffer from autoimmune retinopathy, Behcet disease, juvenile rheumatoid arthritis, vasculitis, parasitosis and posterior uveitis of unknown origin. Negative results for any of the common mutations for the presumed hereditary retinopathies and immediate response to steroid and/or immunomodulatory treatment were the most powerful tools for the correct diagnosis.
Differential diagnosis between hereditary retinal dystrophies and inflammatory/autoimmune diseases is difficult in several cases, thus causing a significant delay in their successful management and treatment. We propose that besides malignancies, those hereditary sight threatening disorders be included in the category of masquerade eye conditions, becoming very essential not just for the sight of the patient but for his life as well. The resemblances of those clinical entities is indicative of a common pathophysiological mechanism. Retinal degeneration may trigger an inflammation cascade and an immune response and vice versa.
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