Table 1

 Summary of previously published histopathological findings in congenital hypertrophy of retinal pigment epithelium (RPE)

AuthorYearAge (years)TypeMain histopathological findings
RPE cellsPigment granulesOthers
SizeDensitySizeDensityShape
FAP, familial adenomatous polyposis with or without extracolonic manifestations (Gardner’s syndrome).
Kurz6196219SolitaryLargeIncreasedSphericalHypigmented RPE (lacunae)
Normal overlying photoreceptors
Buettner5197562, 23SolitaryHypertrophyLargeIncreasedSphericalThickened Bruch’s membrane
Atrophic RPE (lacunae)
Absent overlying photoreceptors
Shields1119754GroupedNormalNormalLargeIncreasedEllipsoidNormal overlying photoreceptors
Wirz12198260SolitaryHypertrophyLargeIncreasedIrregularAtrophic outer retina
HyperplasiaAbsence of lipofuscin
Champion71989< 1SolitaryHypertrophyMacro-melanosomesIncreasedSphericalSmall microvilli
Abnormal melanogenesis
Lloyd8199059SolitaryHypertrophy HyperplasiaIncreasedMacro-melanosomesIncreasedSphericalAbsence of lipofuscin Abnormal phagocytosis
Traboulsi10199051FAPHypertrophyLargeIncreasedSphericalRPE hamartoma
Hyperplasia
Parker13199037,46FAPHypertrophyIncreasedChoristoma
Kasner14199261FAPHypertrophyLargeIncreasedSphericalRPE hamartoma
HyperplasiaAbnormal melanogenesis
Regillo919932GroupedNormalNormalLargeIncreasedEllipsoidAbsent RPE hypertrophy Absent RPE hyperplasia
Present case200562SolitaryHypertrophyNormalLargeIncreasedSphericalThickened Bruch’s membrane
Atrophy