This document discusses macular cherry red spot, which can be seen in certain metabolic storage diseases and central retinal artery occlusion. It provides details on the symptoms, funduscopy findings, investigations and management of central retinal artery occlusion. It then discusses various lysosomal storage diseases that can cause macular cherry red spot such as Niemann-Pick disease, GM1 gangliosidosis, and Tay-Sachs disease. Finally, it briefly covers progressive retinal necrosis and acute retinal necrosis, two necrotizing retinitides associated with herpes viruses.

1. MACULAR CHERRY RED SPOT
Dr.Sidesh Hendavitharana
(Registrar-Opththalmology)

2. .
Pt with macular
cherry red spot
Sudden visual
loss
Spontaneous
Dilated retinal
examination
FFA
Diffuse edema
CRAO
Central retinal
defect
Macular hole
Blunt ocular
trauma
Dilated
funduscopy
Central retinal
haemorrhage
Berlin’s edema
Congenital
condition
Consider:
Niemann-pick
disease
Tay-sachs disease
Sandhoff’s disease
Generalized
gangliosidoses
Immunosupression
Consider:PORN/
ARN

3. CENTRAL RETINAL ARTERY OCCLUSION
• Symptoms
– Sudden profound vision loss,painless except GCA
– VA severely reduced.Absence of LP usually
indicates either GCA or ophthalmic artery
occlusion.
– RAPD is profound,sometimes total(amaurotic
pupil)

4. funduscopy
 Attenuation of arteries and veins with sludging and segmentation
of blood column (cattle trucking/boxcarring)
 Cloudy edematous retina
 Cherry red spot(orange reflex from intact choroid strands out at
the thin foveola,in contrast to the surrounding pale retina)
 Peripapillary retina may be swollen and opaque.
 Over a few days to weeks the retinal cloudiness and cherry red
spot gradually dissapear.
 Late signs include optic atropy,vessel sheathing and patchy inner
retinal atrophy,vessel sheathing and patchy inner retinal atrophy
and RPE changes.
 About 2% of eyes with CRAO develop retinal or disc
neovascularization
 Rubeosis iris may occur in up to about 1 in 5 eyes.

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8. Investigation
• OCT
– Highly reflective embolic plaque within the superficial optic
nerve head.
• FA
– Variable delay in arterial filling and masking of background
choroidal flourescence by retinal edema.
• Electroretinography
– Diminished b-wave is present
 Review
 4wkly interval to detect incipient neovascularization.In this
event,PRP should be considered and anti VEGF might also be
considered.
 Appropriate systemic management is critical.

9. Metabolic storage disease
• Rare metabolic diseases,often enzyme
deficiencies,leads to the pathological accumulation
of lipid based material in various tissues.
• With the passage of time the spot become less
evident due to retinal nerve fibre layer
degeneration,and consecutive optic atrophy is seen.
• They are almost exclusively AR.

10. GM1-gangliosidosis(generalized)
 Inheritance-AR
 Defect-deficiency of beta galactosidase 1
 Systemic features-coarse facies,stiff joints,growth
deficiency and severe cerebral degeneration leading
to death by the age of 2 yrs.
 ocular features-macular cherry red spot in 50% of
cases and very subtle corneal clouding.

11. Mucolipidosis
• Inheritance-AR
• Systemic
• Late-onset
– (after the age of 7 yrs)with myoclonus and seizures,compatible
with normal life span
• Severe
– Starts before the age of 2 yrs and is characterized by severe
neurodegeneration hurler-like
facies,hepatoplenomegaly,deafness and death in early
childhood.
• Ocular features
– Include corneal clouding,macular cherry red spot,optic atrophy
and occasionaly punctate lens opacities.

12. GM2-gangliosidosis
• Tay-sachs disease
– Inheritance-AR
– Pathogenesis
– Deficiency of hexosaminidase A leads to accumulation of ganglioside in the
brain and retina
– Systemic features
– Progressive neurological deterioration starting within 6 months or birth with
death by 2 yrs.
• Sandhoff disease
– Inheritance-AR
– Pathogenesis
• Hexosaminidase A and B deficiency
– Systemic features
• Neurological degeneration similar to Tay-sach disease
– Ocular features
• Macular cherry-red spot and early-onset blindness.

13. Niemann-Pick disease
• Main types- A to C
• Types A (acute neuronopathic)
– Inheritance-AR
– Systemic feature
– Present in infancy and are characterized by severe psychomotor deterioration,massive
hepatosplenomegaly and death by the 4th year.
– Ocular features are macualr cherry-red spot in 50% and subtle corneal clouding.
• Type B(chronic non-neuronopathic)
– Inheritance-AR
– Systemic features
– Present in the teenage years or early adulthood and are characterized by
hepatosplenomegaly,and involvement of the lung and bone marrow.
– CNS disease does not occur and survival upto 20 yrs after presentation is possible.
– Ocular disease
– Cherry red spot at macula and bull’s eye maculopathy.

14. Farber disease
• Inheritance-AR
• Pathogenesis
– Lysosomal storage disease due to defective
ceramidase
• Systemic features
– Include hoarseness,aphonia,dermatitis,
lymphadenopathy,psychomotor retardation and renal
and cardiopulmonary disease
• Ocular features
– Include macular cherry red spot,pingueculum-like
conjunctival lesions and nodular corneal opacity

15. Caucasian
child with a
cherry “red”
spot
Tay-Sachs
disease
Canadian
aboriginal
child with a
cherry
“brown” spot
Sandhoff
disease
East Indian
child with a
cherry
“black” spot
Sandhoff
disease

16. Progressive retinal necrosis
• Devastating necrotizing retinitis,usually caused by VZV and other herpes viruses
• May be associated with immunocompromised states.
• Ocular features
• Rapidly progressive unilateral or bilateral visual loss.
• Ant.uveitis and vitritis are minimal,in contrast to CMV retinitis and ARN.
• RETINITIS:3 Stages recognized.
1) Early:multifocal yellow white deep retinal infiltrates.The macula may be involved in early
stage,often giving a cherry red spot.
2) Established/middle:The signs typically spread rapidly around the retina,with extansive full
thickness necrosis.signs of vasculitis are absent or mild,and significant h’age is uncommon.
3) Late:scarring is plaque like and characterized as ‘cracked mud’.RRD is very common,as in
optic atrophy.
• Investigation:
• Vitrious/aqueous PCR for viral DNA
• TREATMENT
– Immune rescue with HAART together with aggressive antiviral therapy
– VR surgery for RD

17. ACUTE RETINAL NECROSIS
– Rare but devastating necrotizing retinitis.
– It typically affects otherwise healthy
individuals,but tend to be caused by HSV in
younger and VZV in older pts,other herpes viruses
are suspected.
– Prognosis is relatively poor
• Systemic features:
– ARN has been reported following and occurring
simultaneously with HSV encephalitis and herpetic
skin infection

18. Ocular features
• Initialy unilateral with blurred vision and floaters.
• Pain is usually a feature.
• This American uveitis society defines a criteria for diagnosis
1) Prominent anterior uveitis and vitritis(episcleritis and scleritis may occur)
2) One or more discrete foci of peripheral retinal necrosis.
3) Deep yellow-white infiltrate with well defined borders are seen.
4) Circumferential spread of retinal involvement .posterior pole involvement is
late.
5) Occlusive retinal vasculitis including arteritis
6) Rapid progression of disease in the absence of treatment
• Investigation
– Vitrious/aqueous PCR for viral DNA
• TREATMENT
– Intravenous acyclovir/oral valacyclovir or famcyclovir/intravitreal gancyclovir
or foscarnet
– Vitrectomy/Laser retinopexy for RRD

19. Thank you