Familial Congenital Grouped Albinotic Retinal Pigment Epithelial Spots

Mahroo

Progress in Retinal and Eye Research

et al. 2016

181

159

Drusen are discussed frequently in the context of their association with age-related macular degeneration (AMD). Some types may, however, be regarded as a normal consequence of ageing; others may be observed in young age groups. They also occur in a number of inherited disorders and some systemic conditions. Whilst drusen are classically located external (sclerad) to the retinal pigment epithelium, accumulations of material internal (vitread to) this layer can display a drusen-like appearance, having been variously termed pseudodrusen or subretinal drusenoid deposits. This review first briefly presents an overview of drusen biogenesis and subclinical deposit. The (frequently overlapping) subtypes of clinically detectable deposit, seen usually in the context of ageing or AMD, are then described in more detail, together with appearance on imaging modalities: these include hard and soft drusen, cuticular drusen, reticular pseudodrusen and "ghost drusen". Eye disorders other than AMD which may exhibit drusen or drusen-like features are subsequently discussed: these include monogenic conditions as well as conditions with undefined inheritance, the latter including some types of early onset drusen such as large colloid drusen. A number of systemic conditions in which drusen-like deposits may be seen are also considered. Throughout this review, high resolution images are presented for most of the conditions discussed, particularly the rarer ones, providing a useful reference library for images of the range of conditions associated with drusen-like appearances. In the final section, some common themes are highlighted, as well as a brief discussion of some future avenues for research.

Section: Eye Disorders With Undefined Inheritancementioning

confidence: 99%

Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes

Mahroo

Progress in Retinal and Eye Research

et al. 2016

181

159

“…Similarly, grouped albinotic spots of the retina are also considered to be sporadic, although familial occurrences have rarely been reported. Arana et al [6] reported a familial case of a mother and 3 daughters.…”

Section: Discussionmentioning

confidence: 99%

An Unusual Presentation of Concurrent Congenital Grouped Pigmentation of the Retina with Albinotic Spots

Watanabe

Makino

Tampo

2015

Case Rep Ophthalmol

A 10-year-old Japanese girl presented with multiple, small, flat, dark brown clusters of retinal pigment epithelium in both eyes. She had no other symptoms. The appearance was consistent with congenital grouped pigmentation of the retina or bear track spots. A unique co-existing feature was the presence of small, albinotic spots within the entire retina. Fluorescein angiography demonstrated a persistent hypofluorescence correlating with the grouped pigmentation of the retina and granular hyperfluorescence correlating with the albinotic spots. Her mother also showed irregular pigmentation and albinotic spots in both eyes. We describe an extremely rare case of congenital grouped pigmentation and albinotic spots occurring in the retina of the same individual.

Multimodal imaging and functional correlations identify unusual cases of macular retinal pigment epithelium hypopigmentation occurring without functional loss

et al. 2017