2 - Retinal Disorders II Flashcards
Hereditary retinal dystrophies
-describe familial drusen (2)
Numerous drusen
Choroidal NV
Photopsia, dyschromotopsia, nyctalopia, dark adaptation difficulties
Fixed, non-prog VF defect
Fundus app normal 50%, disc pallor, vessel attenuation, vitritis
Melanoma-assoc retinopathy (MAR)
Paraneoplastic retinopathy
-differentials (2)
Abnormal ERG distinguishes from optic neuropathy***
Rapid rate of visual deterioration distinguishes from other retinal degenerations (e.g. retinitis pigmentosa)***
Hereditary retinal dystrophies
-describe Stargardt’s (5)
Yellow flecks
Beaten bronze app
RPE disturbance
Dark silent choroid on FA
Stable vision until 40’s
Hereditary retinal dystrophies
-describe juvenile retinoschisis (3)
Aka X-linked retinoschisis
Foveal retinoschisis
Stellate spoke-like app with microcysts
Cancer-assoc retinopathy (CAR)
- antibodies to
- pathogenesis
- ERG
- cells primarily affected
23-kDa antigen
Autoimmune pathogenesis***
Diffuse loss of ERG/abnormal scotopic***
Rods primarily affected***
Bilateral progressive vision loss
Disc swelling
Abnormal immunoglobulins CSF
ON demyelination
Paraneoplastic ganglion cell neuronopathy (PGCN)
Big blind spot syndrome
- pathogenesis: inflammation, herpesvirus, (?)
- acute onset photopsia
- enlarged blind spot occassionally assoc with mild disc edema
- peripapillary pigmentary changes
- mimic temporal VF defects of chiasmal disease
- focal and multifocal ERGs directed at peripapillary retina***
Acute idiopathic blind spot enlargement (AIBSE)
Multiple choroidal nevi is typical retinal finding
Bilateral subacute vision loss
Subretinal proliferation of pigmentary cells and yellow-orange lesions at level of RPE
Uveitis and rapidly progressive cataract
Diffuse uveal melanocytic proliferation (DUMP)
Paraneoplastic retinopathy
-describe/define
Subacute deterioration of vision and retinal function from non-metastatic, remote effects of a malignancy
Paraneoplastic retinopathy
- signs/symptoms (3)
- ERG
Acute onset photopsia
Abnormal CV
Paracentral scotoma doesn’t respect horiz meridian
-damage to PRL layer (not NFL like glaucoma)
Diffuse retinal dysfunction
Hereditary retinal dystrophies
-cone or cone-rod dystrophies
—presents with__
—possible first sign
Progressive and heritable central vision loss without ophthalmoscopic app, suggesting alternative dystrophy***
Dyschromatopsia***
Melanoma-assoc retinopathy (MAR)
- antibodies to
- pathogenesis
- ERG
Retinal bipolar cells
Autoimmune pathogenesis***
Rod dysfunction (scotopic B-wave) and normal cone function*** -similar to CSNB
Cancer-assoc cone dysfunction
- antibodies to
- ERG
CAR antigen + 50-kDa protein
Abnormal cone ERG***
Paraneoplastic retinopathy
-lab findings (2)
ID of serum anti-retinal antibodies***
Periphlebitis on FA
Hereditary retinal dystrophies
-describe Best’s disease (4)
Egg yolk app
RPE disturbance - breaks BRB
May develop NV
Usually bilateral
Paraneoplastic retinopathy
-main tx
Systemic corticosteroids***
Paraneoplastic retinopathy vs big blind spot syndrome
PR: assoc with cancer (esp malignant/matastatic), more severe
BBS: idiopathic inflamm, peripapillary or multiple areas, more mild
Hereditary retinal dystrophies
-describe myopic degeneration (3)
Peripapillary atrophy
Staphyloma
Lacquer cracks (breaks in Bruch’s)
Subacute photopsia, vision loss, nyctalopia
Progressive VF loss beginning mid-periph scotoma
Mild vitritis, narrow retinal vessels
Relentlessly progressive
Steroids may help
Cancer-assoc retinopathy (CAR)
Big blind spot syndrome
- pathogenesis: inflammation, herpes virus, (?)
- acute onset photopsia, unilateral vision loss and scotomas
- multiple white lesions at the level of the RPE
- full-field ERG abnormalities***
- FA can confirm retinal epith defects
multiple evanescent white dot syndrome (MEWDS)
Hereditary retinal dystrophies
- abnormal light sensitivity
- insidious central veision loss, dyschromotopsia, VF disturbances
- abnormal ERG (esp cones)
- OCT thinning of outer retina-choroid complex
- optic disc pallor
Cone or cone-rod dystrophies
Paraneoplastic ganglion cell neuronopathy (PGCN)
- antibodies to
- pathogenesis
Retinal ganglion cells
Autoimmune pathogenesis***
Women with reproductive tract cancers, men with retroperitoneal
Diffuse uveal melanocytic proliferation (DUMP)
Acute onset VF defect around physiological blind spot + photopsia
All likely affect outer retina
More commonly women
Big blind spot syndrome
