Week 3 - Slides 1-10

DDx: Anophthalmia

Case 1: What is the most likely diagnosis?

1. Microphthalmos 2. Cryptophthalmos 3. Cystic eye

Anophthalmia The congenital absence of one or both eyes (red arrows). True/primary ophthalmos is very rare, and the diagnosis can only be made when there is complete absence of ocular tissue within the orbit. Extreme microphthalmos is more common where a very small globe is present within the orbital soft tissue which is not visible on initial examination. Anophthalmia may occur secondarily to the arrest of development of the eye at various stages of growth of the optic vesicle. Development of the orbit is dependent upon the presence of a normal-sized eye in utero. Anophthalmis is sometimes a clinical characteristic of Trisomy 13, Patau syndrome.

May see severe craniofacial anomalies in unilateral anophthalmos needing to be evaluated by scanning.

Bilateral anophthalmos may have an associated absence of the optic chiasm, a diminished size of the posterior pathways, or agenesis/dysgenesis of the corpus callosum.

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DDx: Coloboma and Buphthalmos 1.

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Case 2: What is the most likely diagnosis?

Staphyloma Axial myopia Congenital glaucoma Orbital neurofibromatosis 1

Coloboma and Buphthalmos-Lens Abnormality (Too Spherical) -Coloboma is a defect in ocular tissue resulting from failure of fusion of the embryonic fissure. Two types of posterior coloboma are optic disc and choroidoretinal. On imaging a focal defect at the posterior globe is seen contiguous with vitreous. This is typically inferonasal to the optic nerve head. Often a retrobulbar colobomatous cyst is present. Can be seen in a variety of syndromes, eg CHARGE and Aicardi. Craniofacial anomalies and encephaloceles are associated and whole brain imaging should be considered on initial evaluation.

-Buphthalmos (macrophthalmia) is the diffuse enlargement of the globe, typically secondary to chronically increased intraocular pressures. An abnormally narrow angle between the cornea and the iris blocks the outflow of aqueous humor, leading to the increase in intraocular pressure. Globe length >25mm adults, >22mm 1 of 1 DDx 1-2 yo, >17mm < 1 yo. To preserve vision, early treatment to relieve pressure is critical.

DDx: Coloboma 1.

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Case 3: What is the most likely diagnosis?

Treacher Collins Syndrome Franceschetti Syndrome Oculoauricular Dysplasia (Goldenhar Syndrome) Amniotic Band Syndrome Cryptophthalmos Syndrome (Fraser Syndrome)

Coloboma -Coloboma is a defect in ocular tissue resulting from failure of fusion of the embryonic fissure. Two types of posterior coloboma are optic disc and choroidoretinal. On imaging a focal defect at the posterior globe is seen contiguous with vitreous. This is typically inferonasal near the optic nerve head (red arrows). They are frequently bilateral (often syndromic), but can be unilateral (isolated). Often a retrobulbar colobomatous cyst is present. Can be seen in a variety of syndromes, eg CHARGE and Aicardi. Craniofacial anomalies and encephaloceles are associated and whole brain imaging should be considered on initial evaluation. Typically more discrete than staphylomas.

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Case 4: What is the most likely diagnosis?

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DDx: Bilateral Lens Dislocation 1.

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Case 4a: What is the most likely diagnosis?

Trauma Homocystinuria Cataracts Microspherophakia Weil-Marchesani

Bilateral Lens Dislocation (Marfan’s Syndrome) Marfan syndrome is an inherited connective-tissue disorder with cardinal features of tall stature, ectopia lentis, mitral valve prolapse, aortic root dilatation, and aortic dissection. Ectopia lentis is the displacement or malposition of the crystalline lens of the eye. The lens is considered dislocated or luxated when it lies completely outside the lens patellar fossa, in the anterior chamber, free-floating in the vitreous (red arrows), or directly on the retina. In the absence of trauma, ectopia lentis should evoke suspicion for concomitant hereditary systemic disease or associated ocular disorders. Ectopia lentis is rare, and half of cases are results of trauma. Marfan syndrome is the most frequent cause of heritable ectopic lentis, which occurs in 75% of patients with the syndrome.

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Case 5: What is the most likely diagnosis?

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DDx: PHPV 1.

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Case 5: What is the most likely diagnosis?

Microphthalmos Coats’ Disease Ocular Toxocariasis Retinopathy of Prematurity

Persistant Hyperplastic Primary Vitreous (PHPV) PHPV is a congenital condition with persistant hyaloid vasculature in Cloquet’s canal (red arrows) and mesenchymal tissue from the embryonic primary vitreous in a micropthalmic eye. Imaging demonstrates small globe, hyperdense vitreous (CT); T1, T2 hyperintense (MR), enhancing hyaloid tissue, retinal detachments. It is often seen in combination with other syndromes, Norrie’s and Warburg’s. Prevalence is rare. The disease is unilateral in 90% of cases and the patient usually has leukocoria, markedly reduced vision, and a small eye.

Treatment is lensectomy with or without anterior or total vitrectomy. The retinal detachment can be repaired.

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DDx

DDx: Staphyloma 1.

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Case 6: What is the most likely diagnosis?

Buphthalmos Axial Myopia Macrophthalmos: seen in NF1 Coloboma

Staphyloma Staphyloma is the term given to an eye whose sclero-uveal coats are stretched and thinned(aka ectasia) (red arrows). This most commonly occurs posteriorly, although anterior staphyloma is recognized. Posterior staphyloma is caused by progressive myopia (or mega myope) most commonly, and also by glaucoma, scleritis, necrotizing infection, or surgery/trauma. Radiographic features include increased eye size, focal deformity (not as marked as coloboma), and non-enhancing uveo-sclera. Advanced staphyloma is commonly associated with myopia.

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DDx: Bilateral Nasolacrimal Mucocele

Case 7: What is the most likely diagnosis?

1. Dermoid 2. Nasoorbital cephalocele 3. Acquired dacryocystocele

Bilateral Congenital Dacrocystoceles Congenital dacrocystoceles (aka nasolacrimal mucocele) is commonly seen in infants. Adult nasolacrimal sac mucocele is an uncommon mass arising in the medial canthal region of the orbit. Dacrocystocele refers to a distended nasolacrimal apparatus extending anywhere from lacrimal sac (red arrows) to near the inferior meatus. Clinically presenting as a bluish cystic swelling at the medial canthal area accompanied by epiphoria.

The sac is initially filled with mucoid material and may become secondarily infected. Distension of the lacrimal sac results from distal nasolacrimal duct obstruction and functional proximal obstruction at the junction of the common canaliculus and sac. Graded treatment from manual massage to surgery is recommended for resolution prior to possible infection.

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Dacryomucopyocele

Case 8: What is the most likely diagnosis?

A benign, bluish-gray mass in the inferomedial canthus (red arrows) that forms as a result of a narrowing or obstruction of the nasolacrimal duct, usually during prenatal development. It is important to distinguish a dacryocystocele from the more serious encephalocele. Nasolacrimal duct probing may be required to open the obstruction. While usually filled with sterile mucous, dacryocystoceles occasionaly become infected, dacrocystitis. Dacryocystoceles may be congenital and are a rare variant of nasolacrimal duct obstruction.

Patients can present with infection, difficulty breathing, or difficulty breast feeding. Cystic appearance CT and MR with peripheral enhancement.

DDx: Dacryomucopyocele 1. Dermoid 2. Nasoorbital cephalocele

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Case 9: What is the most likely diagnosis?

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DDx: Dacryocystitis 1.

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Case 9b: What is the most likely diagnosis?

Canaliculitis Frontal Sinusitis Hypertrophic rhinitis Nasal polyps Lacrimal Sac Obstruction

Dacryocystitis- Dacryomucopyocele Stagnation of tears in a pathologically closed lacrimal drainage system (red arrows) can result in dacryocystitis. Acquired dacryocystitis can be acute or chronic and is characterized by pain and redness in the medial canthal region. An insidious onset of epiphoria is characteristic of chronic inflammation of the lacrimal sac. Fever results from a fulminant bacterial or fungal infection in the lacrimal sac which spreads to the surrounding tissues. Congenital dacryocystitis occurs when nasolacrimal ducts fail to develop properly during infancy.

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DDx: Phthisis bulbi

Case 10: What is the most likely diagnosis?

Thyroid Orbitopathy- Phthisis Bulbi Globe from Corneal Exposure Phthisis bulbi is a small, shrunken calcified globe the result of trauma, inflammation, or ocular disease. The eye is non-functional and may be painful. Exenteration with prosthesis placement is sometimes performed.

Additionally noted on this case is extraocular muscle enlargement as the result of thyroid ophthalmopathy. The resulting long standing proptosis resulted in severe, prolonged corneal exposure and subsequent phthisis bulbi.

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