Summary of previously published histopathological findings in congenital hypertrophy of retinal pigment epithelium (RPE)
Author | Year | Age (years) | Type | Main histopathological findings | |||||
---|---|---|---|---|---|---|---|---|---|
RPE cells | Pigment granules | Others | |||||||
Size | Density | Size | Density | Shape | |||||
FAP, familial adenomatous polyposis with or without extracolonic manifestations (Gardner’s syndrome). | |||||||||
Kurz6 | 1962 | 19 | Solitary | – | – | Large | Increased | Spherical | Hypigmented RPE (lacunae) |
Normal overlying photoreceptors | |||||||||
Buettner5 | 1975 | 62, 23 | Solitary | Hypertrophy | – | Large | Increased | Spherical | Thickened Bruch’s membrane |
Atrophic RPE (lacunae) | |||||||||
Absent overlying photoreceptors | |||||||||
Shields11 | 1975 | 4 | Grouped | Normal | Normal | Large | Increased | Ellipsoid | Normal overlying photoreceptors |
Wirz12 | 1982 | 60 | Solitary | Hypertrophy | Large | Increased | Irregular | Atrophic outer retina | |
Hyperplasia | Absence of lipofuscin | ||||||||
Champion7 | 1989 | < 1 | Solitary | Hypertrophy | – | Macro-melanosomes | Increased | Spherical | Small microvilli |
Abnormal melanogenesis | |||||||||
Lloyd8 | 1990 | 59 | Solitary | Hypertrophy Hyperplasia | Increased | Macro-melanosomes | Increased | Spherical | Absence of lipofuscin Abnormal phagocytosis |
Traboulsi10 | 1990 | 51 | FAP | Hypertrophy | Large | Increased | Spherical | RPE hamartoma | |
Hyperplasia | |||||||||
Parker13 | 1990 | 37,46 | FAP | Hypertrophy | – | – | Increased | – | Choristoma |
Kasner14 | 1992 | 61 | FAP | Hypertrophy | – | Large | Increased | Spherical | RPE hamartoma |
Hyperplasia | Abnormal melanogenesis | ||||||||
Regillo9 | 1993 | 2 | Grouped | Normal | Normal | Large | Increased | Ellipsoid | Absent RPE hypertrophy Absent RPE hyperplasia |
Present case | 2005 | 62 | Solitary | Hypertrophy | Normal | Large | Increased | Spherical | Thickened Bruch’s membrane |
Atrophy |