Pigmented Lesions PDF

Most lesions are asymptomatic, occurring in patients presenting for routine primary eye care. ​ But if macular (not common), will present symptoms ○​ May have a more profound effect on vision resulting in a variety of symptoms: metamorphopsia***, scotoma, and loss of visio...

Most lesions are asymptomatic, occurring in patients presenting for routine primary eye care. ​ But if macular (not common), will present symptoms ○​ May have a more profound effect on vision resulting in a variety of symptoms: metamorphopsia***, scotoma, and loss of vision Categorized by the underlying cellular change as: ​ Atrophy: missing cells ​ Hypertrophy: increased cell size, (pigmented cells increase = increased pigment granules) ​ Hyperplasia: the size of the cell is normal, what happens is the proliferation of cells (too many cells present) ​ Migration: movement of the cells from one place to another ​ Metaplasia: there is a change of one cell type to another cell type ​ Hamartoma (exaggerated hypertrophy and hyperplasia of cells/tissue in a normal location)... different from choristoma: excessive cells in a location that is not supposed to be there (excessive skin cells and excessive skin cells in the bone) ○​ If the formation of excessive cells in an area that contains the cells ○​ Increased pigmented cells in the retina send them to get screening ​ DDx of the CHRPE’s: ○​ Choroidal nevus ○​ Choroidal melanoma ○​ Chorioretinal atrophy ○​ Hyperplasia of the RPE ○​ Old chorioretinal scar (toxoplasmic retinochoroiditis) ○​ Metastasis, malignancy ​ Management: ○​ Refer to gastroenterology for colonoscopy ○​ Retina consultation for retina lesions: RPE lesions themselves do not require tx but must refer patients to a gastrointestinal specialist ○​ F/U closely… tell patient, “prevent cancer through the eyes” Reactive Hyperplasia of the RPE/Single or multiple ​ Common, stable ​ Condition of the RPE that may be idiopathic or arise as a result of intraocular inflammation, trauma, hemorrhage, or retinal detachment ​ Classically presents as small irregularly shaped, relatively flat, well-demarcated areas of pigment clumping ​ Benign proliferation of RPE cells appearing as a flat sheet or cellular mass typically involves minimal to no changes over time ​ Single: ​ Multiple: Reactive hyperplasia of the RPE ​ Pigment granules (any tiny pigment) ​ ○​ Hyperplasia ​ Proliferation of RPE cells appearing as a cellular mass ​ Seen in both filters ​ In OCT causes a dark area underneath in the choroid/shadowing ​ Darkening of the choroid ​ R/G in both, OCT: migration and shadows ​ Management: ○​ Same differential diagnosis as CHRPE (SEE BEFORE) ○​ F/U annually, monitor Congenital Simple Hamartome of the RPE (CSHRPE) ​ Congenital simple hamartoma of the RPE is a mostly asymptomatic non-progressive benign lesion that appears clinically as a small (but can vary) nodular, darkly pigmented lesion as in reactive hyperplasia– normal cell size but mainly increased RPE cells) ​ Congenital proliferation and migration of RPE cells ​ Just pigment no interruptions ​ Location: a little bigger in size versus typical hyperplasia ○​ On the macula or very close to peri macula region***** ​ A pseudonym or another name is congenital hyperplasia ​ May show vitreous traction ​ Rare but may show macular edema ​ ​ ​ ○​ Vitreous traction on the bottom vs. top is just flat and has shadow  ​ ○​ Could have vitreous traction ​ Management: ○​ Same DDx as CHRPE (SEE BEFORE) ○​ Monitor annually Combined hamartoma of the retina and RPE ​ Relatively uncommon, benign, hamartomatous malformation ​ Typically appears as a unilateral, nonuniform, charcoal gray-white, fibroglial mass involving the neurosensory retina with pigment accumulation ○​ Shiny, translucent, involves two different areas (retina, sensory retina and the RPE) ​ Borders are? ​ Two locations ○​ Periphery or central ​ It is NH but C ​ Classically recognized in young children, associated with strabismus and loss of vision ​ What is combined hamartoma? Involves more than one layer (RPE and sensory retina) ​ Not progressive* ​ Which of the following findings is found in combined hamartoma? Epiretinal membrane********* (boards ?) ​ The mass may be obscured by a gliotic semitranslucent ​ The lesions often feature prominent, overlying tractional changes affecting the vessels and neurosensory retina, which may explain presenting reductions in visual acuity ​ Other associated retinal changes- retinal folds ​ These lesions are associated with neurofibromatosis type 2***** (boards ?) ​ ​ ○​ Highly reflective elevated macular lesion hyporeflective shadowing, obscuration of the normal retinal layers ○​ ERM ^^^ may be visible in OCT ​ VA is variable but in half of the cases can be 20/200 or worse ​ FA shows early HYPOfluorescence with late leakage ​ Complications: ○​ Vitreous hemorrhage ○​ Pre-retinal neovascularization peripheral to the hamartoma ○​ Choroidal neovascularization peripheral to the hamartoma ○​ Choroidal neovascularization at the margin of the lesion ○​ Macular hole, and peripheral hole formation ○​ RD is possible ​ DDx: ○​ Choroidal melanoma (OCT, FA, & B scan) ○​ Choroidal nevus (OCT, FA, & B scan) ○​ RPE adenoma ○​ RPE adenocarcinoma ○​ Melanocytoma  ○​ Bilateral combined hamartomas should especially prompt consideration of neurofibromatosis type 2***** ​ Management: ○​ When presenting at a young age, amblyopia prevention is important ○​ Co-management w/ retinologist; surgical intervention is currently debated ○​ Vitrectomy w/ membrane peel can be performed, studies have been mixed with some patients seeing improvement in acuity, but not all ○​ Patients should be followed regularly for monitoring of ERM worsening and development of all previous complications ​ CLOSELY (3-6 months) to avoid RD RPE adenoma/Adenocarcinoma ​ Common ​ Adenoma = benign ​ Adenocarcinoma = malignant ​ Rare intraocular tumors that are extremely uncommon in the RPE ​ Difficult to differentiate adenoma (benign)/adenocarcinoma of the RPE from malignant choroidal melanoma ​ Abruptly elevated masses, can induce retinal exudation and ○​ >……. black (85%), full-thickness retinal mass, often with…………. (62%), surrounding exudative retinopathy (38%), vitreous hemorrhage (15%), and remote epiretinal membrane and macular edema *amelanotic variants have been described ​ These neoplasms can develop within CHRPE lesions or hyperplastic chorioretinal scars. Although adenomas of the RPE can cause visual loss, they are generally ………………….. Once the diagnosis is confirmed, adenomas of the RPE can be safely observed. However, clinical diagnosis is ………………….. Adenoma of the RPE has been reported to respond poorly to tx ​ RPE adenoma ○​ Have halo, flatter lesions than adenocarcinoma ​ Adenoma vs adenocarcinoma ○​ Tumor cells show nuclear pleomorphism, which indicates RPE adenocarcinoma, not adenoma ○​ Change in shape ○​ Pleomorphism: In terms of cells, having variations ​ Features of a primary malignant adenocarcinoma of the RPE/DDX from choroidal melanoma ○​ Adenocarcinomas have a lot of exudation and adenomas do not ○​ Malignant epithelioma ○​ Invade the choriod or retina ○​ 1) development of retinal blood vessels that supply and drain the tumor: feeder vessel ○​ 2) yellow lipoproteinaceous retinal and subretinal exudation ○​ 3) because of their origin from epithelial tissue also referred to as……………… 4) they rest on the Bruch’s membrane and can invade the ………….. ​ ​ ○​ BLURRY VITREOUS* (Cells in vitreous!)- RPE adenocarcinoma ​ Adenoma = same color, flat ​ Adenomacarciona = feeder vessel, cells in vitreous, more elevated ​ OCT: EDI-OCT shows the tumor surface as irregular or “rugged” with full-thickness retinal tumor and dense posterior optical shadowing ○​ Occasional vitreous seeds can be seen. Remote macular findings of epiretinal membrane, cystoid and noncystoid edema, and occasionally macular hole can be found ○​ “Rugged” = zig-zag pattern; adenomas do not have this ​ ○​ 1- Remote macular findings of epiretinal membrane, cystoid and noncystoid edema ○​ 2- as irregular or “rugged” with full-thickness retinal tumor and dense posterior optical shadowing ​ Ultrasonography ○​ ○​ ​ Ultrasonography generally shows moderately high internal reflectivity with no choroidal excavation/orbital shadowing and a B-scan demonstrates an irregular contour with acoustic solidity ​ VERSUS CHOROIDAL MELANOMA; here there is a shadow and minimum reflectivity (understand this because he will ask this on exam)  ​ Management: ○​ Referral to retina-oncologist ○​ Co-manage w/ retina Atrophy of the RPE ​ Defects in the RPE layer continuity; atrophy here looks like a map ​ So, many causes: ○​ Geographic atrophy secondary to AMD ○​ Chorioretinal scarring secondary to retinal degenerations and macular dytrophies (e.g. retinitis pigmentosa, Stargardt disease, cone dystrophy) ○​ Chorioretinal atrophy secondary to inflammatory disorders (e.g. ocular histoplasmosis, multifocal choroiditis and /or AMD) ○​ Myopic degeneration ○​ Trauma Among others (past inflammation) ○​ Something happened in the past… ​ Scar development = chorioretinal scar ○​ ​ Early ^^^ Late^^^ ​ Geographic RPE atrophy ○​ ○​ Geographic pattern = regular patterns, diffuse ○​ Common in dry macular degeneration ​ ○​ 3 findings of RPE atrophy:**** ​ Missing photoreceptors (aka missing ellipsoid zone) ​ Increased reflectivity of the choroid ​ RPE thinning (= opening door for the choroid to grow) ​ ​ Management: ○​ Monitor ○​ Always follow for choroidal vascular formation, ​ Anything breaks the RPE… opportunistic vessels ○​ Educate patient on symptoms ○​ Can give Amsler Grids ○​ OCT is your biggest ally