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DP Hainsworth, ML Katz, CW Hamm, NM Koederitz; Funduscopic and Angiographic Appearance of Batten Disease . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1167.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose:Batten Disease is a group of hereditary disorders often presenting with visual loss due to retinal degeneration and eventual blindness. Although the retinal appearance of Batten Disease has been described in a limited number of cases, patients are often initially misdiagnosed because of purported similarities in the retinal appearance between Batten Disease and other disorders (e.g. retinitis pigmentosa). Very few retinal photographs or fluorescein angiograms of Batten patients have been published. We present a series of Batten patients with fundus photographs and fluorescein angiograms to better describe the features unique to these patients. Methods:Fundus photographs and fluorescein angiograms were taken of patients with various forms of Batten Disease at the Batten Disease Support and Research Association Annual Meeting. Results:21 patients were photographed. 8 patients underwent fluorescein angiography. Variants of Batten Disease included 3 patients with Infantile, 2 patients with Late Infantile, 16 patients with Juvenile and one patient with CLN6. Features observed included 1) variable optic atrophy, 2) variable retinal vessel attenuation, 3) macular pigment changes including RPE atrophy (52%) and orange pigment clumping (38%), 4) epiretinal membrane (38%), 5) peripheral RPE atrophy (62%) and bone spicules (33%). Fluorescein angiograms showed diffuse RPE atrophic stippling of the macula in 88% of Juvenile patients. Conclusion:Significant variability exists in the clinical appearance of Batten patients. However, fluorescein angiography demonstrates diffuse RPE atrophy in the macular region in addition to the peripheral retina in most patients. Angiography may be useful to distinguish this disorder from other causes of early visual loss such as retinitis pigmentosa in which pigmentary changes are often initially confined to the peripheral retina.
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