High-Resolution Spectral Domain Optical Coherence Tomography of Congenital Grouped Albinotic Spots

Congenital grouped albinotic spots of the retinal pigment epithelium

“…Recently, our group used a high-resolution OCT prototype and multimodal imaging correlation, including en face OCT, to show that congenital grouped albinotic spots colocalize with increased RPE reflectivity. 8 Although prior authors speculated that congenital grouped albinotic spots result from impaired melanogenesis of RPE cells, we suggested RPE lipoidal degeneration, an intracellular lipid droplet accumulation, as the underlying etiology. 8 In fact, comparable hypopigmented retinal lesions have been observed in histologic examinations of macaques, representing a manifestation of lipoidal degeneration, wherein RPE cells become replete with vacuoles and lipid droplets.…”

“…8 Although prior authors speculated that congenital grouped albinotic spots result from impaired melanogenesis of RPE cells, we suggested RPE lipoidal degeneration, an intracellular lipid droplet accumulation, as the underlying etiology. 8 In fact, comparable hypopigmented retinal lesions have been observed in histologic examinations of macaques, representing a manifestation of lipoidal degeneration, wherein RPE cells become replete with vacuoles and lipid droplets. 9 Additional investigations showed the hyperautofluorescent nature of these depigmented lesions in macaque retinas.…”

“…10 We postulated that the hyperautofluorescence of these lesions may result from changes within individual RPE cell bodies, such as higher concentration of autofluorescent lipofuscin and melanolipofuscin, or repositioning or loss of melanosomes that normally screen other organelles from the incoming light. 8,11 The clinical spectrum of congenital grouped albinotic spots is wide, ranging from small macular lesions resembling yellow dots to extensive depigmented lesions that involve the entire fundus. Of note, these two phenotypes have been assigned specific names in the literature: 1) benign yellow dot maculopathy and 2) Kandori flecked retina.…”

“…10 We postulated that the hyperautofluorescence of these lesions may result from changes within individual RPE cell bodies, such as higher concentration of autofluorescent lipofuscin and melanolipofuscin, or repositioning or loss of melanosomes that normally screen other organelles from the incoming light. 8,11…”

“…It is possible that the white material had broken down and reabsorbed in those eyes; hence, many of them were hypoautofluorescent and showed transmission hyperfluorescence on fluorescein angiography. Dr. Freund et al 8 postulate possible lipoidal degeneration within the RPE cells while describing a 22-year-old woman whose clinical and multimodal imaging features are quite like this 3-year-old patient. It is difficult to explain the degenerative changes setting in at the age of three years.…”