First Author: M.Astete CHILE
Co Author(s): M. Perez R. Anguita R. Moya C. Nazar
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To describe two cases of Fundus Albipunctatus, its clinical features, Autofluorescence, optical coherence tomography and Electoretinogram findings.
To describe two cases of Fundus Albipuctatus evaluated at the Department of Oculogenetics of the Hospital del Salvador, Santiago, Chile
Review of medical records of two patients diagnosed with Fundus Albipunctatus. Clinical history, Retinography, Autofluorescence (FAF), optical coherence tomography (OCT), and Electroretinogram (ERG) were analyzed
Case 1: 20-year old woman, with nyctalopia since childhood. No family history. Her best corrected visual acuity (BCVA) was 0.9 and 0.6 in right and left eye, respectively. Colour vision test: normal. Anterior segment examination: Normal. At fundoscopic examination: diffuse retinal flecks in mid peripheral retina, sparing macula. FAF: diffuse hyperautofluorescent lesions in mid peripheral retina. OCT: multiple hyper reflective dome-shaped lesions originating from retinal pigment epithelium (RPE). ERG: markedly reduced scotopic response that return to normal after a dark adaptation of 8 hours. Case 2: 50-year old woman, with nyctalopia since 10 years old. No family history. Her BCVA was 0.9 in both eyes. Anterior segment examination: Normal. Fundus exam: Multiple diffuse retinal flecks in mid peripheral retina. OCT: Numerous extrafoveal dome- shaped lesions originating from RPE. ERG: markedly reduced scotopic response, that return to normal after dark adaptation of 120 minutes.
Fundus Albipuctatus (OMIM: 13880) is characterized by multiple white-yellow dots in mid peripheral retina. The main symptom is stationary night blindness. The ERG shows reduced scotopic response that return to normal only after prolonged dark adaptation. Autofluorescence and OCT also have a typical pattern. An adequate diagnose is important, since Fundus Albipuctantus tends to be a non progressive disease.