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Congenital Grouped Albinotic Spots (CGAS): A Rare Anomaly of the Retinal Pigment Epithelium. A 13-Year Follow-up

Elsner H., Laqua H.,
Medizinische Universität zu Lübeck, Klinik für Augenheilkunde (Lübeck)

Background: Congenital grouped albinotic spots (CGAS) are a rare anomaly of the retinal pigment epithelium (RPE). They are characterized by multiple yellow-white spots of various sizes that are located on the RPE-level and are randomly spread over the fundus. The pathogenesis, the histology and the natural course are unknown.
Methods: A 19-year-old female patient has been examined at the age of 6, 9 and 19 years. Further functional tests including an elektro-oculogramm, electro-retinogramm, visual field examination of both eyes (Octopus ST), Ishihara plate test, and Farnsworth Panel D-15 test were performed. At the age of 19 we added optical coherence tomography (OCT) and microperimetry (Rodenstock SLO 101).
Results: The ophthalmoscopically visible multiple yellow-white lesions are located on the RPE-level and are randomly spread across the fundus, they involve the macula, vary in size and are sharply demarcated. Choroidal vessels shine through some of the peripherally located lesions. The visual acuity was 20/20 and the other funktional tests showed no pathologic results. During the 13 years of follow-up no morphologic or functional changes occurred.
Conclusions: CGAS is an extremely rare anomaly of the RPE. The long-term natural course of this anomaly is basically unknown. So far, a progression of the visible lesions has not been reported. Our case also shows morphologic and functional stability in a long-term follow-up. However it differs from published cases in terms of a massive involvement of the macula. Gass (1997) has reported of a 14-year-old female patient with macular CGAS developing secondary choroidal neovascularization. Further long-term follow-ups are necessary to assess the risk of complications.

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