Pattern dystrophies of the retinal pigment epithelium

Abstract

Pattern dystrophies of the retinal pigment epithelium are infrequent fundus abnormalities arranged in various patterns of dots, lines and branches. The basic lesion appears to be yellow deposits of abnormal lipofuscin accumulated within degenerated retinal pigment epithelium cells. Examinations were carried out on two families who had developed different patterned alterations in the retinal pigment epithelium. The proband of family 1 had diffuse changes associated with equatorial folds. One sister had a macular alteration. A daughter was normal; a son had bilateral atrophy of the temporal retinal pigment epithelium. The proband of family 2 had bilateral, symmetrical retinal pigment epithelium lesions that simulated fundus flavimaculatus. His first daughter had a central lesion in her right eye. The second daughter, a peripapillary crescent of hyperpigmentation in her right eye, and circumpapillary chorioretinal atrophy associated with foveolar abnormalities in the left. This report provides further evidence that variable types of pattern dystrophy can occur within a single family pedigree and support the current opinion that all forms of pattern dystrophies are variants of a single pathogenic mechanism.

Quantitative Fundus Autofluorescence and Optical Coherence Tomography inPRPH2/RDS- andABCA4-Associated Disease Exhibiting Phenotypic Overlap

“…This difficulty is related to phenotypic similarities on funduscopy and the lack of diagnostic tests that can be used for better differentiation. For example, the full-field ERG in PRPH2/RDS-associated disease is often normal, [39][40][41] but can also show profound variability even within families carrying the same mutation. 30 FIGURE 8.…”

Multimodal Imaging in a Case with Bilateral Choroidal Folds

“…We hypothesize that the CFs formed due to the extensive PD-related pigmentary changes seen in our patient and expanding and contracting forces seen with CNV development within Bruch's membrane. PD and other disruptions of the RPE have been previously described to lead to CFs [ 4 ]. Notably, pigmentary changes were most remarkable superior and inferior to the nerve, corresponding to the location of CFs in the superior and inferior macula of both eyes.…”

“…R.P.E.”: choroidal tumors, hypotony, hyperopia, inflammation (posterior scleritis), contracting choroidal neovascular membrane, retrobulbar mass, papilledema (increased intracranial pressure), or extraocular hardware [ 3 ]. Angioid streaks and other disruptions of the RPE, including pattern dystrophy, have also been described to cause CFs [ 4 ].…”

Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy

“…Such lesion progression is associated with visual loss. [5][6][7][8] AFVD can be inherited in an autosomal dominant fashion, and mutations in the genes PRPH2, 3,9,10 BEST1, 11-13 IMPG1, 14 and IMPG2 15 were associated with this phenotype. Among these genes, PRPH2 mutations were most commonly associated with AFVD.…”