Retina Review Part 3

Part 3

50 yo lifelong difficulty with night vision

CSNB What is the primary signal transduction defect in congenital stationary night blindness? Failure of communication between photoreceptor and bipolar cell Loss of retinal ‘on-responses’ What is the most common ERG pattern? Negative ERG Large a-wave on scotopic response Absent or reduced b-wave

What is the primary signal transduction defect in congenital stationary night blindness?

Failure of communication between photoreceptor and bipolar cell

Loss of retinal ‘on-responses’

What is the most common ERG pattern?

Negative ERG

Large a-wave on scotopic response

Absent or reduced b-wave

Fundus Albipunctatus What is the main symptom of fundus albipunctatus? Nyctalopia Describe the pathophysiologic defect and findings on testing? Disorder of visual pigment regeneration Delayed recovery of rhodopsin levels after light exposure Prolonged dark adaptation Normal ERG after several hours in dark

What is the main symptom of fundus albipunctatus?

Nyctalopia

Describe the pathophysiologic defect and findings on testing?

Disorder of visual pigment regeneration

Delayed recovery of rhodopsin levels after light exposure

Prolonged dark adaptation

Normal ERG after several hours in dark

Night Blinding Disorders What is a variant of RP that has a similar appearance to fundus albipunctatus? Retinitis punctata albescens How is this entity distinguished from fundus albipunctatus? Attenuated vessels Severely depressed ERG No recovery with dark adaptation Progressive (not stationary)

What is a variant of RP that has a similar appearance to fundus albipunctatus?

Retinitis punctata albescens

How is this entity distinguished from fundus albipunctatus?

Attenuated vessels

Severely depressed ERG

No recovery with dark adaptation

Progressive (not stationary)

Retinitis Pigmentosa Describe the characteristic fundus appearance of RP ‘ Waxy pallor’ of the disc Attenuated retinal vasculature Bone-spicule pigmentation What else is seen clinically? PSC cataract Cystoid macular edema What is commonly seen on GVF and ERG? ring scotoma marked reduction of rod and cone function

Describe the characteristic fundus appearance of RP

‘ Waxy pallor’ of the disc

Attenuated retinal vasculature

Bone-spicule pigmentation

What else is seen clinically?

PSC cataract

Cystoid macular edema

What is commonly seen on GVF and ERG?

ring scotoma

marked reduction of rod and cone function

Retinitis Pigmentosa Inheritance 70% recessive 20% dominant 10% X-linked Variants RP sine pigmento Retinitis punctata albescens LCA Ushers Rx Vitamin A may slow progression

Inheritance

70% recessive

20% dominant

10% X-linked

Variants

RP sine pigmento

Retinitis punctata albescens

LCA

Ushers

Rx

Vitamin A may slow progression

30 yo 20/200 OU, nystagmus, no medical problems or meds

Cone Dystrophy Describe the symptoms of cone dystrophy Progressive central visual loss Dyschromatopsia Photoaversion Describe the clinical findings Bull’s eye maculopathy Selective loss of cone function on ERG

Describe the symptoms of cone dystrophy

Progressive central visual loss

Dyschromatopsia

Photoaversion

Describe the clinical findings

Bull’s eye maculopathy

Selective loss of cone function on ERG

25 yo 20/50 OU

Stargardt Disease What is the typical inheritance pattern of Stargardt disease? Autosomal recessive What is the condition called if there are peripheral flecks with little macular involvement? Fundus flavimaculatus What is a characteristic pattern on fluorescein angiography? Dark choroid What is the typical range of visual acuity? 20/50 to 20/200 Most retain 20/70 to 20/100 in at least 1 eye

What is the typical inheritance pattern of Stargardt disease?

Autosomal recessive

What is the condition called if there are peripheral flecks with little macular involvement?

Fundus flavimaculatus

What is a characteristic pattern on fluorescein angiography?

Dark choroid

What is the typical range of visual acuity?

20/50 to 20/200

Most retain 20/70 to 20/100 in at least 1 eye

40 yo 20/60 OD, 20/40 OS

Best Disease What is the inheritance pattern of Best disease and what chromosome is involved? Autosomal dominant 11 What are the fluorescein angiographic findings? Blockage by vitelliform material Hyperfluorescence in areas of RPE atrophy Is the ERG typically abnormal? No What is the typical level of visual acuity? 20/40 or better

What is the inheritance pattern of Best disease and what chromosome is involved?

Autosomal dominant

11

What are the fluorescein angiographic findings?

Blockage by vitelliform material

Hyperfluorescence in areas of RPE atrophy

Is the ERG typically abnormal?

No

What is the typical level of visual acuity?

20/40 or better

Best Disease What is the critical diagnostic test and what findings would one expect? EOG Decreased Arden ratio (<1.5; often 1.1)

What is the critical diagnostic test and what findings would one expect?

EOG

Decreased Arden ratio (<1.5; often 1.1)

50 yo 20/200 OU

Gyrate Atrophy What is the mode of inheritance of gyrate atrophy? Autosomal recessive What is the enzymatic defect? Ornithine aminotransferase What is the typical visual acuity in most patients by age 40? 20/200 or worse What is the pathognomonic serum finding and how can this be addressed? Elevated ornithine Arginine restriction

What is the mode of inheritance of gyrate atrophy?

Autosomal recessive

What is the enzymatic defect?

Ornithine aminotransferase

What is the typical visual acuity in most patients by age 40?

20/200 or worse

What is the pathognomonic serum finding and how can this be addressed?

Elevated ornithine

Arginine restriction

30 yo male 20/200 OU

Choroideremia What is the mode of inheritance of choroideremia? X-linked recessive What is the typical visual acuity by age 50? 20/200 or worse What are the ERG findings of affected males and female carriers? Males: subnormal early; extinguished late Females: normal For what enzyme does the abnormal gene encode? Rab geranylgeranyl transferase

What is the mode of inheritance of choroideremia?

X-linked recessive

What is the typical visual acuity by age 50?

20/200 or worse

What are the ERG findings of affected males and female carriers?

Males: subnormal early; extinguished late

Females: normal

For what enzyme does the abnormal gene encode?

Rab geranylgeranyl transferase

20 yo male 20/40 OU

Juvenile Retinoschisis What is the mode of inheritance? X-linked recessive What layer is schisis supposed to occur? Nerve fiber layer FA leakage? No ERG? Loss of b wave (negative)

What is the mode of inheritance?

X-linked recessive

What layer is schisis supposed to occur?

Nerve fiber layer

FA leakage?

No

ERG?

Loss of b wave (negative)

Bardet-Biedl Complex Describe the clinical findings in Bardet-Biedl syndrome Obesity Polydactyly Hypogonadism Mental retardation Pigmentary retinopathy What is the mode of inheritance Autosomal recessive How is the ERG affected? Undetectable or severely impaired

Describe the clinical findings in Bardet-Biedl syndrome

Obesity

Polydactyly

Hypogonadism

Mental retardation

Pigmentary retinopathy

What is the mode of inheritance

Autosomal recessive

How is the ERG affected?

Undetectable or severely impaired

1 mo old baby

Tay-Sachs Disease What is the enzyme deficiency in Tay-Sachs disease? Hexosaminidase A Explain the pathophysiology Glycolipid accumulation in the brain and retina leads to mental retardation and blindness Death occurs between 2 and 5 years

What is the enzyme deficiency in Tay-Sachs disease?

Hexosaminidase A

Explain the pathophysiology

Glycolipid accumulation in the brain and retina leads to mental retardation and blindness

Death occurs between 2 and 5 years

Bietti’s crystalline retinopathy What is mode of inheritance? Autosomal recessive Clinical findings? Pigmentary and crystalline retinopathy Corneal crystals Progressive decrease in vision starting in 40s Treatment? No effective treatment

What is mode of inheritance?

Autosomal recessive

Clinical findings?

Pigmentary and crystalline retinopathy

Corneal crystals

Progressive decrease in vision starting in 40s

Treatment?

No effective treatment

Medications Crystals? Tamoxifen Canthoxanthine Talc Pigmentary retinopathy? Thorazine Mellaril Bullseye? Plaquenil (6.5 mg/kg/d) Chloroquine (250 mg/d)

Crystals?

Tamoxifen

Canthoxanthine

Talc

Pigmentary retinopathy?

Thorazine

Mellaril

Bullseye?

Plaquenil (6.5 mg/kg/d)

Chloroquine (250 mg/d)

20 yo hit in OS

Day One Post-injury One Month Post-Injury

Commotio Retinae Describe the pathophysiology Damage to outer retinal layers caused by shock waves Retinal whitening within hours of injury Proposed mechanisms: Extracellular edema Glial swelling Photoreceptor damage/disorganization of outer segments What is the typical time for resolution? 3 to 4 weeks What are 2 causes for limited visual recovery? Macular pigment epitheliopathy Macular hole formation

Describe the pathophysiology

Damage to outer retinal layers caused by shock waves

Retinal whitening within hours of injury

Proposed mechanisms:

Extracellular edema

Glial swelling

Photoreceptor damage/disorganization of outer segments

What is the typical time for resolution?

3 to 4 weeks

What are 2 causes for limited visual recovery?

Macular pigment epitheliopathy

Macular hole formation

18 yo s/p trauma to right eye

Choroidal Rupture Describe the mechanism Anterior-posterior compression Stretching in horizontal axis Tearing of Bruchs membrane along with RPE and choriocapillaris What is the most visually threatening complication? Choroidal neovascularization

Describe the mechanism

Anterior-posterior compression

Stretching in horizontal axis

Tearing of Bruchs membrane along with RPE and choriocapillaris

What is the most visually threatening complication?

Choroidal neovascularization

16 yo shot with BB

Intraocular Foreign Body What is caused by retained copper foreign bodies? Chalcosis What are the findings of chalcosis? Deposits in Descemets membrane Greenish aqueous particles Green iris discoloration Sunflower cataract Vitreous opacities Metallic retinal flecks

What is caused by retained copper foreign bodies?

Chalcosis

What are the findings of chalcosis?

Deposits in Descemets membrane

Greenish aqueous particles

Green iris discoloration

Sunflower cataract

Vitreous opacities

Metallic retinal flecks

Intraocular Foreign Body What condition is caused by retained iron foreign bodies? Siderosis bulbi Describe the findings? Corneal stromal staining Iris heterochromia Pupillary mydriasis & poor reactivity Anterior lens deposits and cataract Peripheral and diffuse retinal pigmentation Narrowed vessels Optic atrophy What are ERG findings? Increased a-wave and normal b-wave early Progressive diminution of b-wave amplitude

What condition is caused by retained iron foreign bodies?

Siderosis bulbi

Describe the findings?

Corneal stromal staining

Iris heterochromia

Pupillary mydriasis & poor reactivity

Anterior lens deposits and cataract

Peripheral and diffuse retinal pigmentation

Narrowed vessels

Optic atrophy

What are ERG findings?

Increased a-wave and normal b-wave early

Progressive diminution of b-wave amplitude

40 yo s/p ruptured globe OS; OD 20/40, AC cell

Sympathetic Ophthalmia What is the reported range of time interval from initial injury to development of SO? 5 days to 66 years What uveitic entity most closely resembles SO and how can they be differentiated? VKH History of ocular trauma or multiple surgical interventions VKH involves choriocapillaris; SO spares it

What is the reported range of time interval from initial injury to development of SO?

5 days to 66 years

What uveitic entity most closely resembles SO and how can they be differentiated?

VKH

History of ocular trauma or multiple surgical interventions

VKH involves choriocapillaris; SO spares it

Sympathetic Ophthalmia What are possible extraocular manifestations shared with VKH? Vitiligo Poliosis Alopecia Dysacusis Meningeal irritation CSF pleocytosis What are the fundus lesions called and how do they appear on fluorescein angiography? Dalen-Fuchs nodules Early hypofluorescence with late hyperfluorescence

What are possible extraocular manifestations shared with VKH?

Vitiligo

Poliosis

Alopecia

Dysacusis

Meningeal irritation

CSF pleocytosis

What are the fundus lesions called and how do they appear on fluorescein angiography?

Dalen-Fuchs nodules

Early hypofluorescence with late hyperfluorescence

Sympathetic Ophthalmia What is the treatment for SO? Corticosteroids Cyclosporine A Azathioprine/Methotrexate

What is the treatment for SO?

Corticosteroids

Cyclosporine A

Azathioprine/Methotrexate

3 mo old; consult from PICU

Shaken Baby Syndrome What are the ocular signs? Retinal hemorrhages Cotton wool spots Retinal folds Schisis cavities What disorders can lead to hemorrhage in the vitreous cavity, sub-ILM space, subretinal space, and sub-RPE space? Shaken baby syndrome Trauma Exudative AMD Retinal arterial macroaneurysm

What are the ocular signs?

Retinal hemorrhages

Cotton wool spots

Retinal folds

Schisis cavities

What disorders can lead to hemorrhage in the vitreous cavity, sub-ILM space, subretinal space, and sub-RPE space?

Shaken baby syndrome

Trauma

Exudative AMD

Retinal arterial macroaneurysm

20 yo s/p MVA; NLP OD

Valsalva Retinopathy Describe the pathophysiology Sudden rise in intra-abdominal pressure (cough, etc) Corresponding rise in intraocular venous pressure Rupture of macular capillaries Hemorrhage What is the typical location of hemorrhage? Sub-ILM What is the typical visual prognosis? Excellent Spontaneous resolution within months

Describe the pathophysiology

Sudden rise in intra-abdominal pressure (cough, etc)

Corresponding rise in intraocular venous pressure

Rupture of macular capillaries

Hemorrhage

What is the typical location of hemorrhage?

Sub-ILM

What is the typical visual prognosis?

Excellent

Spontaneous resolution within months

Purtschers Retinopathy What are the etiologies? Acute compression injury to thorax or head Acute pancreatitis Fractures Describe the pathophysiology Activation of complement with granulocyte aggregation and leukoembolization Complement-mediated leukostasis and obstruction Formation of cotton wool spots, hemorrhage, & edema Fat embolization for fractures What is seen on fluorescein angiography? Arteriolar obstruction Vascular leakage

What are the etiologies?

Acute compression injury to thorax or head

Acute pancreatitis

Fractures

Describe the pathophysiology

Activation of complement with granulocyte aggregation and leukoembolization

Complement-mediated leukostasis and obstruction

Formation of cotton wool spots, hemorrhage, & edema

Fat embolization for fractures

What is seen on fluorescein angiography?

Arteriolar obstruction

Vascular leakage