Bilateral congenital hamartomas of the retinal pigment epithelium in a patient with Down's syndrome

Macular Edema in a Peculiar Case of Pigmentary Maculopathy

“…Of these cases, only a single case of bilateral disease has been reported in a patient with Down syndrome. 10 Furthermore, there have not been any previous reports of CSHRPE with multifocal lesions, as in the current case.…”

“…After those four publications, 21 others characterized the clinical and multimodal imaging features of CSHRPE. 5–26 In total, 42 patients have been described of age between 8 and 80 years. Of these cases, only a single case of bilateral disease has been reported in a patient with Down syndrome.…”

“…2,3 In the 42 cases reported in the literature, 21 of 42 (50%) had a best-corrected visual acuity of 20/25 or better, 5 of 42 (12%) between 20/30 and 20/40, and 16 of 42 (38%) below 20/40. 3,5–26 The factors related to decreased visual acuity are macular edema, 11,13 amblyopia, 11 vitreomacular traction and surrounding foveal traction with an epiretinal membrane, 2,6,11 and tractional macular hole formation. 12,25 Interestingly, mild surrounding retinal traction is a common finding and may provide the pathophysiological basis for the development of foveal traction and macular holes.…”