Week 3 - Cases 11-20

DDx: Senescent Limbus Calcifications of the Globe 1.

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Case 11: What is the most likely diagnosis?

Scleral drusen Epicanthus inversus Choroidal hemangioma Internal Hordeolum Retinoblastoma

Senescent Limbus Calcifications of the Globe Calcium deposition in the orbit may be metastatic (hypercalcemic states) or dystrophic. Causes can include neoplastic (retinobastoma, astrocytic hamartomas), Sturge-Weber, VHL, post traumatic, choroidal osteoma, drusen, episcleral choristoma. Aging with senescent calcification is a not uncommon, benign finding in older people. Typically occurs at or anterior to the tendinous insertions of the horizontal EOMs.

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DDx: Papilledema 1.

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Case 12: What is the most likely diagnosis?

Central Retinal Vein Occlusion Melanoma Optic Neuritis Scleritis Metastasis

Papilledema Occurs when raised intracranial pressure is transmitted to the optic nerve sheath. The raised pressure mechanically disrupts axoplasmic flow within the nerve. Obstipation of intra-axonal fluid results in swelling of the axons (blue arrows) and leakage of water and protein in to the extracellular space of the optic disc giving rise to optic disk edema (red arrows). Neuroimaging with contrast should be performed in an attempt to identify a CNS mass lesion. Consider MR venography to detect venous sinus thrombosis. CT scan may be useful to rule out optic disc drusen.

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DDx: Pseudopapilledema: Optic Sheath Dural Ectasia 1.

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Case 13: What is the most likely diagnosis?

Meningioma Optic Neuritis Pseudotumor Sarcoidosis Vogt-Koyanagi-Harada Disease

Pseudopapilledema in Hajdu-Cheney Syndrome: Optic Sheath Dural Ectasia Hajdu-Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome, is an extremely rare autosomal dominant congenital disorder of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other possible symptoms. Approximately 50 cases have been reported worldwide. Pseudopapilledema (red arrows) and mixed hearing loss are two of the many associated symptoms of Hajdu-Cheney syndrome. OS ectasia is a form of ocular meningocele, saccular dilatation of the meninges of the intraorbital sheath. May be primary or secondary including due to meningiomas, pilocytic astrocytomas, and hemangioma. May be focal or segmental enlargement. A/w empty sella, enlarged subaracnoid cisterns e.g. gasserian cisterns.

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Case 14: What is the most likely diagnosis?

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DDx: Retinoblastoma 1.

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Case 14: What is the most likely diagnosis?

Hemorrhage, Vitreous Retinal Detachment, Exudative Retinopathy of Prematurity Tuberculosis Uveitis, Anterior, Childhood

Retinoblastoma The most common primary ocular malignancy of childhood, there are two forms of the disease; 45% genetic and 55% non-genetic. Usually unilateral, it originates from immature cells committed to cone differentiation (red arrows). Genetic cases caused by a dysregulation in retinoblastoma susceptibility gene, RB1, which encodes a protein with regulatory function in the cellular growth cycle. The average age at presentation is 13-15 months.

If left untreated, the disease can be fatal. Family history should be inquired for eye tumor, childhood malignancy, or enucleation. Leukocoria and/or strabismus are common symptoms.

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DDx: Hamartoma 1.

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Case 14: What is the most likely diagnosis?

Drusen Papilledema Metastasis Retinoblastoma Hemangioma

Tuberous Sclerosis - Hamartoma Tuberous sclerosis, aka Bourneville’s disease, can be transmitted in autosomal dominant form, but is more commonly occur spontaneously. Characteristic findings include adenoma sebaceum (60-90%), menatal retardation (50%), and seizures (60-80%). Associated findings include retinal hamartomas (50%), as in this case, shagreen patches (20-40%), ungual fibromas (20-30%), cardiac rhabdomyomas (25-50%), AMLs of the kidneys (50-90%), cystic bone lesions, and intracranial manifestations. These include periventircular subependymal nodules 90-100%), cortical/subcortical tubers ( 95%), WM hamartomas, and subependymal giant cell astrocytomas (10-15%).

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Case 15: What is the most likely diagnosis?

A. Field

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DDx: Choroidal Metastasis 1.

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Case 16: What is the most likely diagnosis?

Amelanotic Choroidal Melanoma Choroidal Hemangioma Lymphoma Posterior Scleritis Granulomatous inflammation

Choroidal Metastasis and Detachment (Lung Carcinoma) A choroidal metastasis is a malignant neoplasm (red arrows) that spreads to the choroid from a distant primary cancer. It is confined by Bruch’s membrane and does not exhibit the seeding that often characterizes anterior uveal metastasis. It is often multifocal and bilateral. It is best diagnosed by ophthalmoscopic recognition of the typical fundus lesion. In general, the farther away the tumor’s primary origin is located from the optic nerve and fovea, the larger size it can reach before the patient notices a visual defect. Exudation of fluid into the subretinal space which can lead to retinal detachment (blue arrow).

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DDx: Choroidal Hemangioma 1.

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Case 17: What is the most likely diagnosis?

Choroidal Melanoma Choroidal Osteoma Central Serous Chorioretinopathy Retinoblastoma Metastasis

Choroidal Hemangioma Choroidal hemangiomas are typically seen in middle-aged to elderly patients, although may be seen in children.

They are congenital vascular lesions. Two types have been reported. A circumscribed or solitary type not associated with other abnormalities and a more diffuse angiomatosis often associated with Sturge-Weber.

Ocular changes typically ipsilateral to cutaneous manifestations. Associated retinal detachment not uncommon.

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Case 18: What is the most likely diagnosis?

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DDx: Orbitofacial AVM 1.

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Case 18: What is the most likely diagnosis?

Capillary hemangioma Anterior cranial fossa dural AV fistula Rendu-Osler-Weber syndrome Plexiform neurofibroma Wyburn-Mason Syndrome

Orbitofacial AVM Arteriovenous malformations represent 2% of all hemorrhagic strokes and can be seen in young adults. AVMs are congenital lesions composed of a complex tangle of arteries and veins connected by one or more fistulae.

In the vascular conglomerate, the feeding arteries drain directly into the draining veins. The arteries have a deficient muscularis layer and the veins often are dilated owing to the high velocity of blood flow through the fistula. How the abnormal vessels appear or exactly when the process begins is unknown. AVM is characterized by large head, hydrocephalus, scalp vein distension (red arrows), seizures, failure to thrive, congestive heart failure. Survivors often remain developmentally impaired. AVMs can be congenital, sporadic, or due to trauma.

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Case 19: What is the most likely diagnosis?

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Case 19: What is the most likely diagnosis?

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Case 19: What is the most likely diagnosis?

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DDx: Congestive Orbitopathy-Dural AVF 1.

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Case 19: What is the most likely diagnosis?

Orbital Cellulitis Pseudotumor Grave’s disease Carotid cavernous fistula

Congestive Orbitopathy-Dural AVF Arteriovenous malformations represent 2% of all hemorrhagic strokes and can be seen in young adults. AVMs are congenital lesions composed of a complex tangle of arteries and veins connected by one or more fistulae (red arrows). In the vascular conglomerate, the feeding arteries drain directly into the draining veins. The arteries have a deficient muscularis layer and the veins often are dilated owing to the high velocity of blood flow through the fistula. How the abnormal vessels appear or exactly when the process begins is unknown. AVM is characterized by large head, hydrocephalus, scalp vein distension, seizures, failure to thrive, congestive heart failure. Survivors often remain developmentally impaired. AVMs can be congenital, sporadic, or due to trauma.

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Case 20: What is the most likely diagnosis?

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DDx: Cavernous Malformation of Optic Chiasm 1.

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Case 20: What is the most likely diagnosis?

Optic Gliomas Metastasis Sarcoid Neuritis

Cavernous Malformation of Optic Chiasm Cavernous malformations (CM) arising from the optic nerve and chiasm are characterized by the presence of sinusoid-like capillary vessels containing blood in very sluggish circulation, and are extremely rare in the optic chiasm and optic tract. CM within the anterior visual pathways can cause visual symptoms as well as headache, retro-orbital pain and nausea, the so-called “chiasmal apoplexy”. Clinical symptoms of CMs are mostly the results of intrinsic and extrinsic bleeding. MRI will be most effective in diagnosing these lesions, and often show a reticular core of mixed signal-intensity and a surrounding rim of decreased signal-intensity (red arrow).

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