Macular Learning Objectives Cherry-Red Spots: Today, we will - PDF document

James Kundart OD MEd FAAO FCOVD-A 7/24/18 Macular Learning Objectives Cherry-Red Spots: Today, we will explore the varied causes and consequences of Causes and cherry red spots on the macula: Consequences 1. To cover some congenital and systemic causes behind central retinal artery occlusion (CRAO) 2. To review prevention and treatment of CRAO 3. To explore the varied presentation of the genetically- 2018 Victoria Conference inherited lysosomal storage diseases, including Tay-Sachs, Niemann-Pick, Gaucher, and Sandhoff diseases James Kundart OD MEd FAAO FCOVD-A Pacific University College of Optometry 4. To differentially diagnose traumatic causes of cherry red macular spots, like commotio retinae Financial Disclosures: Nothing to Disclose https://en.wikipedia.org/wiki/Cherry-red_spot One Cherry Red Spot We Won’t Cover Today: Bullseye Other Causes of Cherry Red Spots (Plaquenil) Retinopathy 1. Central Retinal Artery Occlusion 2. Tay-Sachs disease 3. Niemann-Pick disease 4. Other Causes (Gaucher, Commotio Retinae, Sandhoff disease) https://www.ncbi.nlm.nih.gov/ pmc/articles/PMC3864975/ https://diagnosticpathology.biomedcentral.com/articles/10.1186/1746-1596-5-20 1. CRAO: Diagnosis and CRAO: Objective Treatment “Cattle Trucking” https://www.ncbi.nl m.nih.gov/pmc/arti cles/PMC4764311/ Cyanopsia in CRAO 1

James Kundart OD MEd FAAO FCOVD-A 7/24/18 CRAO: Cilioretinal Artery Sparing CRAO: Fluorescein OCT after 3, 7, 30, and 90 days Angiography https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4764311/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822202/ CRAO Triggers: Cataract CRAO RNFL Improvement and Surgery Retrobulbar Injection Fluorescein Angiography: OCT in a 65 YOF after 3, 7, 30, and 90 days https://www.ncbi.nl m.nih.gov/pmc/artic les/PMC5433131/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822202/ CRAO Triggers: Cataract Surgery Retrobulbar Injection CRAO Triggers: 49 YOM After in a 46 YOM Chiropractic Manipulation https://www.ncbi.nl m.nih.gov/pmc/artic les/PMC5433131/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3325618/ 2

James Kundart OD MEd FAAO FCOVD-A 7/24/18 CRAO Triggers: Chiropractic CRAO Triggers: 58 YOM with Manipulation Treated with Ginkgo? Chung-Strauss Syndrome https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3325618/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3714957/ CRAO Triggers: 8 YOM with CRAO Triggers: 58 YOM with Pediatric Pneumonia Chung-Strauss Syndrome https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5148912/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3714957/ CRAO Triggers: 8 YOM with CRAO Triggers: Congenital Pediatric Pneumonia Single Heart Atrium in 23 YOAF ¡ Chest X-ray showed that two lung markings were increased, the high density lower right lung patchy shadows and a small right-sided pleural effusion at the initial presentation ¡ b Chest X-ray showed that two lung textures were increased, the right lower lung had a high patchy density, and its edge was smooth https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4612404/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5148912/ 3

James Kundart OD MEd FAAO FCOVD-A 7/24/18 Preventing and Treating CRAO in 23 YOAF with PTA (Patent or CRAO DDx: 25 YOM with Sickle Persistent Truncus Arteriosus) Cell Anemia and Hyperbaric O 2 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244145/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4612404/ 2. Tay-Sachs Disease ¡ One of the gangliosides, diseases of sialic acid-containing material CRAO DDx: found in neural tissue like gray matter 18 YOF with ¡ If lysosomes don’t break these Pseudo- down efficiently, they accumulate in the brain and Cherry Red produce a spectrum of disorders, Spot in including a cherry-red spot in the macula Dermato- ¡ Tay-Sachs disease is the most myositis famous of the gangliodisoses http://en.wikipedia.org/ wiki/Tay-Sachs https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724690/ Tay-Sachs and Tay-Sachs Cherry-Red Macula the Gangliodisoses ¡ The red spot is essentially a nerve ¡ Tay-Sachs Disease (TSD), or acute fiber layer window at the fovea infantile GM2, is often fatal by age 5 compared to the fatty accumulation elsewhere on the retina, seen in early-onset Tay-Sachs only ¡ It is named for British ophthalmologist Waren Tay and American neurologist ¡ The spot causes poor vision, that leads in turn to poor fixation Bernard Sachs first described the cellular appearance of the disease in ¡ Poor fixation commonly results in the 1880’s nystagmus because of larger-than- normal tremors of the eye ¡ It has a classic cherry-red macular spot ¡ Strabismus and poor binocularity are that is a telling sign in patients, many of common in Tay-Sachs disease whom are children Classic Cherry Red Spot https://en.wikipedia.org/wiki/Waren_Tay http://en.wikipedia.org/wiki/Bernard_Sachs Wright, Figure 7-5A, page 374 4

James Kundart OD MEd FAAO FCOVD-A 7/24/18 Stalling Saccades in Other Clinical Signs of Tay-Sachs Tay-Sachs Disease ¡ Dymyelination of optic nerve, chiasm and tracts ¡ Optic atrophy ¡ Progressive loss of vision ¡ Blindness, often by age 2 ¡ Flatline VEP early, with normal ERG late ¡ Oculomotor ataxia Degenerated Cherry Red Spot Leigh & Zee, 4 th ed. Wright, Figure 7-5B, page 374 https://pn.bmj.com/content/15/3/164 Tay-Sachs.mpg Ethnic Predilection Early Detection of Tay-Sachs and Late-Onset Tay-Sachs ¡ Most cases of Tay-Sachs disease are fatal early in life, others are ¡ Recessive carriers of Tay-Sachs are not and often misdiagnosed found in at least 1 in 30 in each of the following ethnic groups: ¡ All are autosomal recessive , ¡ Eastern European (Ashkenazi) Jews meaning both the children of (1:3600) – widespread genetic carrier parents are carriers themselves testing has lead to early intervention ¡ French Canadians ¡ The full disease in this family of conditions penetrate as often as ¡ Louisiana Cajuns about 1 in 4 of certain populations ¡ Irish Americans have a 1 in 50 http://abcnews.go.com/Health/ chance of being a carrier parent-carrier-test-eliminate- ¡ Tear enzyme assay someday? scourge-rare-childhood- ¡ In the general population, the diseases/story?id=12632510 incidence of carriers is 1 in 300 http://www.slideshare.net/aggabriel1/tay-sachs-disease-32430703 Future Treatment of Tay-Sachs: 3. Niemann-Pick Disease Enzyme Replacement? ¡ This loosely-knit group of metabolic diseases are characterized by abnormal accumulation of fats and cholesterol in visceral and neural tissue ¡ This autosomal recessive disease happens due to missing enzymes to http://beaconhill break down body fats which accumulate in the spleen, liver, and childrensfarm.ca eyes ¡ There are three identified types: ¡ Types A and B are caused by lipid buildup in myelin sheaths of nerve cells https://en.wikipedia.org/ ¡ Type C is caused by cholesterol wiki/Jacob_sheep http://imagebank.asrs.org/file/8651/ accumulation niemann-pick-disease-type-b 5

James Kundart OD MEd FAAO FCOVD-A 7/24/18 The Five Known Types of Diagnosing Niemann-Pick Niemann-Pick Disease Disease (NPD – VIDEO) ¡ The ophthalmic hallmark ¡ Preschool children with NPD of NPD Type C is Type A first show “failure to progressive supranuclear thrive” vertical gaze palsy ¡ Next comes progressive ¡ Look for hard blinks and vision loss and neurological head thrusts with vertical deterioration eye movements especially ¡ As in Tay-Sachs disease, NPD is characterized by ¡ Oculomotor and other cherry-red macular spots striated muscle ataxia is common, as are learning and eye movement disabilities disorders (shown here) https://www.epgonline.org/images/niemann-pick/2487.jpg http://bcove.me/oe9bo2r6 Niemann-Pick Saccades video from Leigh & Zee, 4 th edition Niemann-Pick Disease: Other Ocular Manifestations of Type B vs. Type C Niemann-Pick Disease, Type A ¡ Type B is mostly respiratory, In Type C , cholesterol-laden ¡ Mild corneal haze has less neurological “foam cells” accumulate, involvement, and survival classically leading to: ¡ Fine lenticular deposits into adulthood ¡ Hepatosphenomegaly, all ¡ Cherry-red spot (50%) ¡ Expect orbital congestion starting in late childhood due to increased orbital fat ¡ Retinal “haze” that ¡ Progressive dementia or extends far beyond the ¡ A macular halo may be intellectual disability fovea seen instead of a cherry ¡ Ataxia red spot in Type B ¡ Central vision loss, occurring later in the ¡ Dystonia ¡ Not usually associated with disease (age 2) vision loss (normal BCVA) ¡ Vertical gaze paresis http://imagebank.asrs.org/file/8649/nie mann-pick-disease-type-b CNS Effects of Types B and C Signs and Symptoms of Niemann-Pick Disease Niemann-Pick Disease, Type C ¡ In type B, patients can ¡ In terms of eye effects, you develop psychosis due to can expect at least 4 out of 5 accumulation of myelin in Niemann-Pick patients to the central nervous system exhibit: ¡ Since Type B patients survive ¡ Oculomotor ataxia well into adulthood, when ¡ Vertical gaze palsy these mental health disorders emerge, they have to be ¡ Learning disabilities and managed, sometimes https://neurowiki2012.wikispace visual-perceptual problems s.com/Niemann-Pick+Disease surgically ¡ Some have mental health ¡ Seen here is the loss of gray concerns matter in the brain of a Niemann-Pick Type C patient https://neurowiki2012.wikispaces.com/Niemann-Pick+Disease 6