SIGNS AND SYMPTOMS

Fovea centralis: central 5 degrees, about 1.5 mm wide (same as optic disk), with 36,000 cells, no ganglion cells, and area of maximal cone density (contributes about 0.5 mV of the ERG), although 90% of the actual number of cones are outside the fovea (100 mV of the ERG). The four layers (ILM, outer plexiform, outer nuclear, and cones) are oriented obliquely away from the foveola. RPE cells are more columnar and have increased melanin and lipofuscin, as well as xanthophyll; this, plus the absence of capillaries, accounts for the perifoveal dark appearance on FA.

Macula: central 18.4 degrees, comparable number of rods and cones, more than two ganglion cells in thickness.

Midperiphery: maximal rod density 20–40 degrees eccentric to foveola.

Periphery: largest anatomic area.

Signs and Symptoms

AMELANOTIC LESIONS OF THE FUNDUS (Mnemonic: learned pathologists should never misdiagnose amelanotic melanomas of the choroid): lymphoid lesions, posterior scleritis, sarcoid granuloma (and other inflammatory or granulomatous diseases such as tuberculosis and syphilis), neurolemmoma, metastatic cancer (usually from breast or lung cancer), amelanotic melanoma or AMD with a hemorrhagic disciform scar, and choroidal hemangioma or osteoma.

ANGIOID STREAKS Dark reddish brown irregular streaks that radiate from the disk, representing breaks in a thickened and calcified Bruch’s membrane. High risk of choroidal rupture or hemorrhage from mild trauma (prescribe safety spectacles), high risk of CNVM (look for subretinal hemorrhage around the disk). FA shows hyperfluorescent streaks early from overlying atrophic RPE. Etiology includes (mnemonic: PEPSI):

Pseudoxanthoma elasticum: most common known cause (85% incidence of angioid streaks); associated with ON drusen, peau d’orange retinal appearance, ‘‘plucked chicken’’ skin, widespread vascular malformations that can cause bleeds, and cardiovascular complications. From ATP transporter gene defect.

Ehlers-Danlos syndrome: collagen synthesis defect associated with hyperextensible joints, lax skin, ectopia lentis, RD, and blue sclera; risk for corneal or colon rupture.

Paget’s disease of the bone: 10 to 15% of cases have angioid streaks and osteoclastic hyperactivity, especially at the base of the skull (patients may have increased hat size from frontal bossing), and long bones (pathologic fractures). Treat with calcitonin.

Sickle cell anemia: 1 to 2% of angioid streaks.

Idiopathic: 50% of angioid streaks.

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BULL’S-EYE MACULOPATHY Associated with chloroquine (or, less likely, hydroxychloroquine), cone dystrophy, Spielmeyer-Vogt-Batten-Mayou disease, rarely RP, Stargardt’s disease, AMD, crystalline retinopathy, and central areolar choroidal sclerosis.

CHERRY RED SPOT Indicative of CRAO, Tay-Sachs disease, NiemannPick disease, gangliosides GM1, Farber’s disease, sialidosis, and metachromatic leukodystrophy.

CHORIORETINAL FOLDS Etiology: idiopathic (incidental, hyperopia), retrobulbar mass (orbital tumor or implant), scleral inflammation (TRIO, orbital pseudotumor, posterior scleritis), scleral buckle, hypotony, choroidal tumors, CNVM, and ON head diseases (crowded disk, pseudopapilledema). Parallel deep (unlike epiretinal membrane striae; on FA, see hyperfluorescence at apex (thin RPE) and hypofluorescence at trough (RPE bunched and blocks).

CHOROIDAL EFFUSION OR HEMORRHAGE Associated with uveal effusion syndrome, intraor postoperative from rapid IOP changes, with shearing of choroidal perforating arteries (hypertension and atherosclerosis are primary risk factors), and hypotony.

CHOROIDAL NEOVASCULAR MEMBRANE (CNVM) (Mnemonic: MHATP): macular degeneration, histoplasmosis, angioid streaks, trauma (choroidal rupture) or toxoplasmosis, pathologic myopia. Also ON drusen, choroidal tumors, inflammatory lesions, photocoagulation (if too small [<50 mm] or too hot), hereditary degenerative CNVM, juxtafoveal teleangiectasis, multifocal choroiditis, serpiginous choroidopathy, MEWDS, and idiopathic.

CHOROIDAL THICKENING (BY ULTRASOUND) Associated with SturgeWeber hemangioma, diffuse uveal melanoma, carotid–cavernous sinus fistula, uveitis, VKH, and sympathetic ophthalmia.

COTTON WOOL SPOTS (CWS) Seen with HIV, AIDS, or AIDS-related complex, diabetes, hypertension, cardiovascular disease, anemia, leukemia, vasculitis (SLE, scleroderma), and radiation. From interrupted axoplasmic flow in the NFL, usually ischemic. The nerve fibers whiten from lipid breakdown and some exudation; seen on pathology as necrosis or may see cytoid bodies.

CYSTOID MACULAR EDEMA Fluid collection in cystic spaces in the outer plexiform layer (radiating fibers of Henle), causing decreased VA, loss of foveal light reflection, intraretinal edema, and possible secondary photoreceptor degeneration or lamellar or full-thickness retinal hole.

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Etiology (mnemonic: DEPRIVE NOT): diabetes, epiretinal membrane (any vitreous traction) or endophthalmitis (or any severe retinitis, including toxoplasmosis, ARN, CMV, and candidiasis), pars planitis, retinal telangiectasias or radiation retinopathy or RP, Irvine-Gass syndrome (pseudophakic or other postsurgical) or idiopathic or iridocyclitis (severe, such as Behc¸et’s syndrome, birdshot choroiditis, and sarcoidosis), venous obstruction (BRVO, CRVO), epinephrine, nicotinic acid maculopathy, others (Goldmann-Favre, juvenile X-linked retinoschisis), and tumors. If no leakage is seen on FA, may be from Goldmann-Favre, RP, nicotinic acid, or juvenile X-linked retinoschisis ( JXLR).

Pseudophakic, aphakic, Irvine-Gass syndrome: 10% incidence after ICCE, 5% after ECCE, <1% after uncomplicated phacoemulsification. Associated with ruptured hyaloid face, vitreous to wound, AC IOL, pupillary capture, and inflammation.

If chronic, becomes macrocystic (usually irreversible) as cysts form between Mu¨ller’s cells.

Treat with steroids, NSAIDs, Diamox 500 mg qid (especially in RP and other RPE disturbances but not effective in vasculopathies); relieve vitreous traction or IOL capture, or consider posterior vitrectomy.

DALEN-FUCHS NODULES Associated with sarcoidosis (involves choriocapillaris), sympathetic ophthalmia (spares choriocapillaris), and VKH. Represent T-cell granulomas between Bruch’s membrane and retina that look like drusen.

DEAFNESS AND RETINAL LESIONS Seen with Alport’s syndrome, choroideremia, Harada syndrome, Hunter’s syndrome (MPS II), Sanfilippo’s syndrome (MPS III), Laurence-Moon-Bardet-Biedl syndrome, Norrie’s disease, Refsum’s disease (phytanic acid), rubella, syphilis, Usher’s syndrome (Hallgren syndrome), and Waardenburg’s syndrome.

DECREASED VISION WITH NORMAL EXAM AND FUNDUS Seen with Stargardt’s disease, X-linked retinoschisis, cone–rod dystrophy, amblyopia, and CNS disease.

DIET-ASSOCIATED RP SYNDROMES Associated with Refsum’s disease, gyrate atrophy, and Bassen-Kornzweig syndrome.

DRAGGED MACULA Seen with toxocariasis, FEVR, ROP, PHPV, and PDR.

DRUSEN Seen with AMD, juxtafoveal telangiectasia, adult vitelliform, and pattern dystrophy (better prognosis than AMD, not heaped up like vitelliform; autosomal dominant transmission). ‘‘Hard’’ drusen are discrete

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228 RETINA AND VITREOUS

and small (63 mm, about half retinal vein thickness); ‘‘soft’’ drusen are usually larger and have ill-defined edges. A single lesion is called a druse.

ENDOPHTHALMITIS May be bacterial, fungal, phacogenic, traumatic, or IOL-related. May be exogenous (postsurgery, trauma, etc.) or endogenous (systemic infection, usually in an immunocompromised host or IV drug abuser).

EXUDATIVE, TRANSUDATIVE, OR SEROUS RD Associated with VKH (Harada syndrome), pars planitis, sympathetic ophthalmia, acute hypertension (such as preeclampsia or eclampsia/toxemia), uveal effusion syndrome (usually short eyes with thick sclera), steroid use, ICSR, posterior scleritis, Goodpasture’s syndrome, choroidal tumors (75% of uveal melanomas have RD), exudative ARMD, ARN, rheumatic fever, sarcoidosis (Schaumann’s syndrome), Stickler’s syndrome, toxocariasis, toxoplasmosis, birdshot choroiditis, Crohn’s disease, HZV, Coats’ disease, and PAN. Characterized by shifting fluid that follows gravity.

FLECKED RETINA (Mnemonic: the ‘‘4F’s’’): Fundus flavimaculatus (type of Stargardt’s disease), familial dominant drusen, fundus albipunctatus (subtype of CSNB), fundus punctatus albescens (subtype of RP); also AMD, Doyne’s honeycomb dystrophy, Bietti’s crystalline dystrophy, toxic reaction (e.g., to tamoxifen), and Alport’s syndrome.

GRANULOMA OF THE RETINA Seen with tuberculosis, toxocariasis, sarcoidosis, and toxoplasmosis.

HEMORRHAGE AT ALL LEVELS OF THE RETINA Seen with sickle cell anemia, shaken-baby syndrome, CNVM, trauma, and macroaneurysm.

HEMORRHAGE, INTRARETINAL Many causes, usually vasculopathies (e.g., diabetes, aneurysms, and sickle cell anemia) or trauma.

HEMORRHAGE, SUBRETINAL Many causes, most commonly CNVM. Subretinal hemorrhage is toxic to photoreceptors and may lead to scarring. If large (>1 mm thick), consider vitrectomy with tissue plasminogen activator (tPA) and intravitreal gas injection; if moderate, tPA with or without vitrectomy; if small, observe. May use iron chelation with deferoxamine.

HEMORRHAGE WITH RETINAL NECROSIS Associated with CMV, herpes, toxoplasmosis, and Behc¸et’s syndrome.

INNER RETINAL ATROPHY Caused by retinal ischemia, especially CRAO (inner two thirds of the retina down to the inner nuclear layer depends on

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the retinal circulation), glaucoma (if advanced, can lead to wipeout of the inner nuclear layer), and toxic-nutritional degeneration.

MUCOPOLYSACCHARIDOSES CAUSING RPE DEGENERATION Hunter’s syndrome (type II), Hurler’s syndrome (type I-H), Sanfilippo’s syndrome (type III), and Scheie’s syndrome (type I-S), but not Maroteaux-Lamy syndrome (mucopolysaccharidosis VI).

NEURORETINITIS, LEBER’S IDIOPATHIC STELLATE NEURORETINITIS

Macular star and disk swelling caused by cat-scratch disease (Bartonella), leptospirosis, mumps, influenza, varicella, or unknown etiology. Usually have spontaneous resolution over several months; 80% of patients regain 20/40 vision or better.

PARAFOVEAL TELANGIECTASIAS Associated with old macular BRVO, DR, radiation, ocular ischemic syndrome, Coat’s disease, and acquired parafoveal telangiectasias.

PROLIFERATIVE RETINOPATHY OR NEOVASCULARIZATION PDR, hypertension, sickle cell disease (peripheral seafan NV), CRVO, BRVO, or, less likely, CRAO (you see nothing and patient sees nothing). Also caused by BRAO, carotid disease, blood dyscrasias (Waldenstro¨m’s macroglobulinemia, polycythemia rubra vera), collagen vascular disorder, inflammmatory disease (syphilis, SLE, Behc¸et’s syndrome, Eales’ disease, sarcoidosis, VKH, and pars planitis), radiation, RD with hemorrhage, trauma, FEVR, thrombophilic conditions (microhyperhomocysteinemia, anticardiolipin antibodies, factor V Leiden), and pars planitis (peripheral).

PROLIFERATIVE VITREORETINOPATHY (PVR) Usually seen following RRD, trauma, or any long-standing proliferative retinopathy (see above) caused by fibroglial proliferation into the vitreous framework; if a retinal tear, liberated RPE cells may undergo metaplasia into myofibroblasts that then contract.

PUNCHED OUT LESIONS WITH VITRITIS Seen with panuveitis with subretinal fibrosis, multifocal choroiditis, and sarcoidosis.

RAISED RETINAL LESIONS (Mnemonic: RPE monoliths): RPE hypertrophy or hyperplasia (pseudoadenomatous RPE hyperplasia, glandlike RPE scar), melanoma, organizing hemorrhage, nevi or neoplasm, osteoma, late inflammatory changes, idiopathic, trauma, hemangioma, scar (disciform).

RETINAL CRYSTALS Caused by tamoxifen, canthaxanthine, methoxyflurate, talc, and Bietti’s crystalline dystrophy.

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230 RETINA AND VITREOUS

RETINAL MICROANEURYSMS Caused by diabetes, venous occlusive disease, sickle cell disease, and radiation.

RETINAL VASCULAR TORTUOSITY Caused by fetal alcohol syndrome (FAS) and Fabry’s disease.

RETINITIS, RETINOCHOROIDITIS Caused by infections (toxoplasmosis, CMV, toxocariasis, HSV, syphilis, tuberculosis, ARN, progressive outer retinal necrosis (PORN), fungal or candidiasis, septic retinitis or subacute bacterial endophthalmitis, Bartonella), and immune diseases (sarcoidosis, birdshot choroiditis, MEWDS, ARPE, SFU, RP).

TRACTION RETINAL DETACHMENT Any fibroproliferative disorder (see above), especially diabetes and ROP, usually with a concave appearance.

ROTH’S SPOTS White-centered hemorrhages that can be seen with any chronic hemorrhage but classically associated with septic emboli (endocarditis, Candida bacteremia), as well as leukemia and collagen-vascular diseases.

SALT AND PEPPER FUNDUS Seen with congenital infections (rubella, syphilis, HSV, varicella, mumps), Leber’s congential amaurosis, cancerassociated retinopathy (CAR), thioridazine use, and carriers of choroideremia, albinism, or RP.

SCALLOPED RETINAL ATROPHY Associated with gyrate atrophy, high myopia, and choroideremia.

SCLERAL THICKENING (BY ULTRASOUND) Seen with scleritis, hypotony, pthisical eye, and nanophthalmos.

SEROUS RD Associate with idiopathic central serous, ON pits, CNVM, hemangioma, nevi or melanoma, metastatic cancer, and Harada syndrome or other inflammatory disease. See also exudative RD above.

SILENT CHOROID ON FA Associated with Stargardt’s disease (lipofuscin in RPE blocks FA) and systemic argyrosis.

STELLATE MACULOPATHY Yellow lipid in outer plexiform layer (OPL) with starlike pattern usually from hypertension, optic neuritis, Coats’ disease, hemangioma, or inflammatory disease (especially from Bartonella).

UNILATERAL RP Associated with siderosis (retained intraocular foreign body), DUSN, and AZOOR.

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