A Long Term Recurrent Case of Acute Retinal Pigment Epithelitis.

PURPOSE: To describe the case of a young adult who developed two episodes of Acute Retinal Pigment Epithelitis (ARPE) in the same eye 7 years apart, describing retinal morphologic changes using SD-OCT scan. OBSERVATIONS: ARPE is an acute, self-limiting macular disorder characterized by a stippled dark macular lesion surrounded by a hypopigmented halo under fundus examination, corresponding to a foveal disruption of the outer retinal layers and an hyperreflective lesion under SD-OCT scan. Despite ARPE lesions usually appearing to be situated within the macula, a diffuse involvement of the RPE has been suggested1. SD-OCT scan in our patient showed multiple focal lesions involving the whole posterior pole of the affected eye. CONCLUSIONS AND IMPORTANCE: We report the first case where a diffuse involvement of the RPE in the disease is supported by an OCT finding and the case with the longest period between two recurrent self-limited episodes described so far.

Optic disc drusen, angioid streaks, and mottled fundus in various combinations in a Sicilian family.

BACKGROUND: We describe a Sicilian family in which optic disc drusen, angioid streaks, and mottled fundus--without dermatological signs of pseudoxanthoma elasticum (PXE)--are present in various combinations and segregate as an autosomal dominant trait. Since these ocular manifestations can be part of the clinical signs of PXE, we examined the possible involvement of a mutation in the ABCC6 gene, which is known to be responsible for PXE. METHODS: Linkage analysis was performed with both intragenic and flanking markers. We used marker D16B9722 and a single-nucleotide polymorphism located in exon 15 of the ABCC6 gene. LOD score values were calculated on the assumption of a gene frequency of 0.0001 and both complete penetrance and reduced penetrance (90%), with theta values between 0.0 and 0.4. RESULTS: LOD score values excluded the involvement of the ABCC6 gene. CONCLUSIONS: The dominant transmission of optic disc drusen, mottled fundus, and angioid streaks in this family is not due to alterations in the ABCC6 gene.