ADULT TUMORS in the eye and orbit of different condtions

adult tumors

1. BENIGN AND MALIGNANT OCULAR TUMOURS IN ADULTS

2. GROUP 5 PRESENTATION PRESENTERS GRACEJOY IGOKI HSM 212 0625/2023 RUTH WAIRIMU, HSM 212 0625/2023 YOHANA RAPHAEL, HSM 212 0794/2023 EMMY KOSGEY ,HSM 212 0625/2023

3. CONJUNCTIVA TUMORS Conjunctival Nevus : A conjunctival naevus is the most common melanocytic conjunc tival tumour . The overall risk of malignant transformation is less than 1%

4. Cont.. .The histological appearance is similar to that of a cutaneous naevus, but as there is no conjunctival dermis, subepithelial and stromal replace dermal in the nomenclature: Compound naevus is characterized by the presence of naevus cells at the epithelial–subepithelial junction and within the subepithelial stroma, often with epithelial inclusions such as cysts and goblet cells Subepithelial lesions remain localized. Junctional naevus is uncommon and consists of nests of naevus cells at the epithelial–subepithelial junction

5. Clinical features Symptoms. The lesion is initially noticed in the first or second decade. Signs A solitary slightly or moderately elevated pigmented or partially pigmented lesion of variable size, most frequently juxta limbal. Over half contain small cysts. A naevus is mobile over the underlying sclera. The extent of pigmentation is variable. Absence of pig mentation is relatively common

6. Signs of potential malignancy An unusual site such as the palpebral or forniceal conjunctiva. Prominent feeder vessels. Sudden growth or increase in pigmentation. Development after the second decade

7. CONT., Management : Treatment by excision is usually for cosmesis, but sometimes for irritation or a suspicion of malignancy.

8. Conjunctival Papilloma : Conjunctival papillomata are strongly associated with human papillomavirus infection, especially types 6 and 11. Histopathology reveals a fibrovascular core covered by an irregular proliferation of non-keratinized stratified squamous epithelium containing goblet cells

9. Clinical features Lesions are sessile (wide base and flattish profile or pedunculated and are frequently located in the juxta limbal area, fornix or the caruncle. They are usually solitary but may be multiple. Large lesions may cause irritation, interfere with lid closure or encroach onto the cornea.

10. Treatment Small lesions may resolve spontaneously. Large lesions are treated by excision, sometimes with cryotherapy to the base and the sur rounding area. Options for recurrences include subconjunctival interferon alfa, carbon dioxide laser vaporization, topical mitomycin C and oral cimetidine.

11. Dermolipoma A dermolipoma is similar in composition to a solid dermoid but also contains fatty tissue. Presentation tends to be in adult life as a soft yellowish subconjunctival mass near the outer canthus The surface is usually keratinized and may exhibit hairs. Occasionally the lesion may extend into the orbit or anteriorly towards the limbus.

12. Cont..

13. Treatment is generally avoided because of the possibility of complications arising from the surgery, such as scarring, ptosis, dry eye and ocular motility problems. In selected cases, debulking the anterior portion may improve cosmesis with lower risk. It is critical to distinguish a dermolipoma from a prominent lacrimal gland lobe and from orbital fat prolapse

14. Pyogenic granuloma A pyogenic granuloma is a fibrovascular proliferative response to a conjunctival insult such as surgery or trauma, or occurs in association with a chalazion or foreign body incarceration. Presentation is typically a few weeks after surgery for chalazion, strabismus or enucleation, with a rapidly growing dark pink fleshy conjunctival mass

15. Treatment Treatment with topical steroids is often successful, but resistant cases require excision. The differential diagnosis Includes suture granuloma, which can often be large and mistaken for a malignant lesion and Tenon capsule granuloma or cyst.

16. Miscellaneous benign epibulbar tumours Epibulbar telangiectasia may be associated with Sturge–Weber syndrome. Reactive pseudo- epitheliomatous hyperplasia is a rapidly growing white juxtalimbal hyperkeratotic nodule that develops secondary to irritation. Melanocytoma is a rare congenital lesion. It manifests as a slowly enlarging black lump that cannot be moved freely over the globe. Epibulbar angioma is a rare late consequence of radiation treatment

17. Malignant tumours . Conjunctival melanoma Conjunctival melanoma is an uncommon but serious condition, accounting for about 12% of conjunctival tumours and 2% of all ocular malignancies. Around 75% arise from an area of PAM, about 25% from a pre-existing junctional or compound naevus and rarely de novo

18. Presentation Presentation is often in the sixth decade, though patients with the rare dysplastic naevus syndrome develop multiple melanomas at a considerably younger age. The dif ferential diagnosis includes naevus, ciliary body melanoma with extraocular extension, melanocytoma and pigmented conjunctival squamous carcinoma

19. Cont Metastasis occurs in 20–30% particularly to regional lymph nodes, lung, brain and liver. Factors associated with a poor prognosis include caruncular , forniceal or lid margin location and tumour thickness of 2 mm or more.

20. Diagnosis Histology shows melanomatous cellular atypia with invasion of the subepithelial stroma Appearance. A black or grey vascularized nodule that may be fixed to the episclera . The limbus is a common site, but a melanoma may arise anywhere in the conjunctiva B-scan ultrasonography may be helpful in characterization of the lesion. Systemic screening consists of regular general examination, liver function testing and ultrasound, chest X-ray and pos sibly whole-body positron emission tomography/computed tomography (PET/CT) imaging where available. Sentinel lymph node biopsy may be helpful in staging, though its place has not yet been fully defined.

21. Treatment Diffuse melanoma associated with extensive PAM/C-MIN is treated by excision of localized nodules with mitomycin C or cryotherapy to the diffuse component. Excision in circumscribed lesion Radiotherapy / cryotherapy The drug vemurafenib improves survival in patients with metastatic disease when the BRAF V600E mutation is present (50% of primary and metastatic conjunctival melanomas).

22. Ocular surface squamous neoplasia Ocular surface squamous neoplasia (OSSN) describes a spectrum of slowly progressive, benign, premalignant and malignant epithelial lesions of the conjunctiva and cornea. Older adults are usually affected unless a predisposing systemic condition is present. Risk factors include ultraviolet light exposure, a pale complexion, ciclosporin, smoking, petroleum product exposure, acquired immunodeficiency syndrome (AIDS) and xeroderma pigmentosum. Human papilloma virus infection (especially type 16) has been implicated in some cases. Metastatic disease is rare.

23. Diagnosis Histology shows a spectrum of abnormality. The first two are sometimes termed conjunctival–corneal intraepithelial neoplasia (CCIN): Conjunctival epithelial dysplasia, where dysplastic cells are confined to the basal epithelial layers. Carcinoma in situ, where dysplastic cells involve the full thickness of the epithelium. Squamous cell carcinoma where there is invasion of the underlying stroma

24. Symptoms. A visible mass in one eye, sometimes accompanied by conjunctivitis-type symptoms. Signs Are variable, and clinical correlation with histological severity is unreliable. Most tend to develop within the inter palpebral fissure, particularly at the limbus, although any part of the conjunctiva or cornea may be involved. The lesion may appear fleshy, gelatinous, leukoplakic or papillomatous, superficial or feeder vessels may be prominent, or the appearance may be avascular. Intraocular extension is uncommon. In patients who are heavy smokers the tumour tends to be large and in the inferior fornix.

25. Treatment EXCISION - with 2–4 mm margins and assessment for completeness of clearance. It is important not to cut below Bowman membrane as recurrent disease can potentially penetrate the corneal stroma. Complete histological excision is associated with recurrence of 5–33%. Adjunctive measures reduce recurrence and include cryotherapy, brachytherapy or topical chemotherapy. Subconjunctival interferon injections can also be employed.

26. Topical chemotherapy . used as adjunctive treatment, this may also be employed as a primary modality to avoid the scarring and stem cell damage associated with extensive excision, to reduce tumour size prior to Excision to treat recurrence. Topical interferon alfa-2b is particularly effective, with complete tumour resolution achieved in approximately 80% of patients. Mitomycin C and 5-fluorouracil can also be used but are more likely to be associated with ocular side effects. In individuals whose immune system is suppressed, a once daily instillation of interferon drops should be used lifelong to prevent recurrence

27. Kaposi sarcoma Kaposi sarcoma is a slowly growing tumor that is typically found in individuals with AIDS, but occasionally in the elderly and when there is long-term immunosuppression. Features; avascular bright red or purplish plaque or nodule is seen sometimes resembling (or associated with) conjunctival hemorrhage. Histology reveals a proliferation of spindle-shaped cells, vascular channels and inflammatory cells. If treatment is necessary, systemic AIDS therapy should be optimized, with local radiotherapy, excision and local or systemic chemotherapy as additional options.

28. Sclera Scleral Nevus : Presentation : A scleral nevus is a pigmented lesion on the sclera, often appearing as a brown, gray, or blue spot. It may be flat or slightly raised. Management : Scleral nevi are usually monitored by an eye care professional to ensure they do not change or become cancerous. Surgical removal is generally not necessary unless there are concerning features.

29. Scleral Cyst : Presentation : Scleral cysts are rare and typically present as clear, fluid-filled cysts on the sclera. They can vary in size. Management : Surgical removal may be considered for large or bothersome scleral cysts.

30. Scleral Nodules : Presentation : Scleral nodules can manifest as small, raised, and painless bumps on the sclera. They may vary in color. Management : The management of scleral nodules depends on the specific diagnosis. Some nodules may not require treatment, while others may need surgical excision if they grow, cause discomfort, or affect vision.

31. Iris Nevus : Presentation : Iris nevi are pigmented lesions on the colored part of the eye (the iris). They are usually benign and may not cause symptoms. They can appear as brown or blue spots on the iris. Management : Iris nevi are often monitored without treatment. Surgical removal is considered if there are cosmetic concerns or if they cause discomfort or other complications.

32. Iris freckle ( epthelis ) – are superficial lesions smaller than neuvus with no elevation or distortion, with increased melanocyte pigmentation and normal cell numbers. Brushfields spots – small whitish peripheral speckles arranged in a concentric ring. Occurs in down syndrome and is a normal finding in blue eyes. Lisch nodules – small well defined nodules, found in both eyes, mostly in both eyes of virtualy all patienst with NF1 Ddx ; iris melanoma

33. Iris cysts Uncommon Types; Primary epithelial cysts- arise from iris of iridociliary pigment epithelium. -appears as a smooth dome shaped bulging - best seen on gonioscopy - most are asymptomatic - large cysts may rearly obstruct vision and focal photocoagulation to the cyst wall may be needed

34. ii. Primary stromal cysts May be congenital ( more aggressive) or acquired. Solitary unilateral structure with a smooth translucent anterior wall, lying on or within the iris May remain stable for many year before enlarging and can sometime rupture. iii. Secondary cysts: Traumatic cysts Paracytic cysts ( rare) Extended use of long-acting mitotics

35. Malignant iris tumor Iris melanoma Account for 8 % of uveal melanoma prognosis –good ( only 5% develop metastasis within 10 years of rx ) Risk factors; fair skin, lighter iris colour, cutaneous naevi, iris or choroidal naevi, chronic sun light exposure and arc welding. Presentation; in middle age Clinical features; slow growing, pigmented nodule in the inferior half of iris often with surface blood vessels, pupillary distortion and localized cataract

36. Diagnosis Histology in the majority shows diffusely infiltrating spindle cells (see below) of low-grade malignancy A minority contain an epithelioid cell component and can be more aggressive Ultrasound biomicroscopy is used to rule out ciliary body involvement. • Fine-needle aspiration biopsy may be employed prior to major surgical intervention. • Systemic investigation should be carried out.

37. Treatment : Sector iridectomy- for small tumors . Iridocyclectomy – for tumors invading the angle. Radiotherapy Enucleation – for diffusely growth tumors if radiotherapy is not possible. Monitoring – for recurrence and metastasis. DDX; iris nevus

38. Ciliary body melanoma Accounts for 12 % of all uveal melanomas Risk factors – same as iris melanoma Presentation: - usually in the 6 th decade Clinical presentation; Overlying prominent epicleral (sentinel) vessels. Iris erosion Lens sublaxation or cataract

39. Investigations; Three-mirror contact lens exam and binocular indirect ophthalmoscopy Gonioscopy to detect angle invasion Ultrasonic biomicroscopic Biopsy Investigation for systemic involvement Treatment ;- iridocyclectomy - for small or medium size tumors Involving no more than 1/3 of the angle - radiotherapy - enucleation - systemic treatment

40. Choroid Choroidal Nevus : Choroidal naevi are present in 5–10% of Caucasians but are rare in darker-skinned races. Growth occurs mainly during the pre pubertal years and is extremely rare in adulthood. For this reason clinically detectable growth should raise a suspicion of malignancy.

41. Diagnosis Symptoms. The great majority are asymptomatic and detected on routine examination. • Signs Usually post-equatorial, oval or circular, brown to slate-grey lesion with indistinct feathery margins. Overlying drusen are typical. A depigmented halo is very common. Amelanotic lesions can occur

42. Features suspicious of early melanoma The presence of overlying orange pigment. Acoustic hollowness on ultrasonography (US). Symptoms such as photopsia, blurred vision. Thickness greater than 2 mm; diameter over 5 mm. Absence of drusen. Margin within 3 mm of the optic disc. The presence of associated subretinal fluid. The absence of a halo

43. Investigations Photographic documentation Fundus autofloresence OCT FA Ultrasonography

44. Management : Choroidal nevi typically do not require active treatment. They are usually monitored by an eye care professional to detect any changes in size or appearance. If there are significant changes or signs that suggest potential malignancy, additional testing, such as ocular ultrasound or OCT, may be performed. Regular follow-up visits are essential to monitor any alterations in the nevus. Rarely, a choroidal nevus might be treated with laser therapy or cryotherapy if it causes symptoms, such as visual disturbances or exudative detachment of the retina. DDX choroidal melanoma, choroidal osteoma

45. Choroidal Osteoma : Presentation : Choroidal osteoma is a rare, benign ossifying tumor of the choroid. It typically appears as a well-defined, yellowish-white lesion. It may affect central vision and can lead to scarring and vision loss if it involves the fovea (the center of the retina).

46. Management : Choroidal osteomas often do not require treatment unless they cause vision problems or complications. Laser photocoagulation or photodynamic therapy (PDT) may be considered if complications, such as choroidal neovascularization (abnormal blood vessel growth), develop.

47. Choroidal Hemangioma : Presentation : Choroidal hemangiomas are benign vascular tumors within the choroid. They may present as a reddish or orange lesion and can lead to visual disturbances, macular edema, or retinal detachment.

48. Management : Treatment options for choroidal hemangiomas may include, laser photocoagulation, photodynamic therapy (PDT), anti-VEGF injections, depending on the size and location of the tumor and the extent of vision impairment.

49. Investigation OCT FA FAF ICGA US MRI

50. Choroidal Cysts : Presentation : Choroidal cysts are clear, fluid-filled sacs that can develop in the choroid. They may be asymptomatic and discovered during routine eye exams. Management : Small, asymptomatic cysts typically do not require treatment. Larger or symptomatic cysts may be treated with surgical drainage.

51. Choroidal melanoma Most common primary intraocular malignancy in adults. Account for 80% of all uveal melanoma. Diagnosis Symptoms; often absent detected incidentally Signs; solitary elevated grey-brown or rarely amelanotic dome-shaped mass. -collar stud appearance if it breaks through the Bruch membrane - associated haemorrhage and subretinal fluid are common - sentinel vessels, choroidal folds, inflammation, rubiosis iridis and secondary glaucoma and cataract

52. Investigation FA B-scan OCT MRI Biopsy Genetic tumor analysis Treatment Brachytherapy Radiotherapy Transpupillary thermotherapy (TTT) Transcleral choroidectomy Enuclaetion Systemic chemotherapy

53. Differential diagnosis Pigmented lesions A choroidal naevus usually exhibits numerous surface drusen, without serous retinal detachment and little if any orange pigment. Melanocytoma is deeply pigmented and usually located at the optic disc. Congenital hypertrophy of the RPE is flat, is often grey–black and has a well-defined margin with lacunae. Haemorrhage in the subretinal or suprachoroidal space, for example from choroidal neovascularization or retinal artery macroaneurysm . Metastatic cutaneous melanoma has a smooth surface, a light brown colour , indistinct margins, extensive retinal detachment and often a past history of malignancy

54. Cont. Non-pigmented lesions Circumscribed choroidal haemangioma is typically posterior, pink, dome-shaped and has a smooth surface. Metastasis is often associated with exudative retinal detachment. Solitary choroidal granuloma, e.g. sarcoidosis, tuberculosis. Posterior scleritis, which can present with a large elevated lesion, but in contrast to melanoma pain is a common feature. Large elevated choroidal neovascular lesion, which can be eccentrically located, usually in the temporal pre-equatorial region; typically associated with exudate and fresh haemorrhage , both of which rarely accompany a melanoma.

55. Cont.. The choroid is by far the most common (90%) site for uveal metastases. The most frequent primary sites are the breast and bronchus.

56. Vitreous Cysts : Presentation: Vitreous cysts are rare, fluid-filled sacs that can develop within the vitreous humor. They are often discovered incidentally and may not cause noticeable symptoms. Management: Small, asymptomatic vitreous cysts may be observed without treatment. Larger cysts or those causing visual symptoms may require surgical removal through vitrectomy.

57. Retina Retinal Astrocytoma : Presentation : Retinal astrocytoma are slow-growing tumors that originate from retinal astrocytes. They often appear as white or yellowish nodules in the retina, commonly in the peripapillary region (near the optic nerve). These tumors may cause visual disturbances, including decreased visual acuity, visual field defects, or strabismus. Management : Small, asymptomatic retinal astrocytoma's may not require treatment and can be closely monitored. However, if they cause vision problems or grow significantly, treatments like laser therapy or cryotherapy may be considered.

58. Neural tumors Optic Nerve Glioma : Optic nerve gliomas are usually slow-growing tumors that arise from the glial cells of the optic nerve. They can occur in both children and adults. Presentation : Symptoms may include visual disturbances, such as decreased visual acuity, visual field defects, and proptosis (bulging of the eye). In adults, they may also be associated with neurofibromatosis type 1 (NF1). Investigation ; MRI, CT scan

59. Management : Treatment depends on the tumor's location, size, and the patient's symptoms. For some cases, active surveillance and close monitoring are appropriate, especially for small tumors with no significant impact on vision. If necessary, treatments may include surgery, radiation therapy, or chemotherapy. In cases related to NF1, the management may also involve systemic care for the underlying genetic condition. Ddx : optic nerve meningioma

60. Optic Nerve Meningioma Presentation : Meningiomas (NF2) are slow-growing tumors that can originate from the meninges (the protective coverings of the brain and spinal cord) and may extend to the optic nerve. Symptoms may include progressive visual loss, visual field defects, and proptosis. Optic nerve meningiomas often affect adults and are more common in women.

61. Management : The management of optic nerve meningiomas may involve a combination of observation, surgery, and radiation therapy. Small tumors with minimal impact on vision may be monitored without immediate intervention. Surgical resection may be considered for larger or symptomatic tumors, but it can be challenging due to the tumor's location near the optic nerve. Radiation therapy, such as stereotactic radiosurgery, may be used as an alternative or adjuvant treatment. DDX ; optic nerve glioma .

62. Optic Nerve Sheath Meningioma (primary tumor): Optic nerve sheath meningiomas are primary tumors originating from the meninges that surround the optic nerve. They can be managed with a combination of surgical resection and radiation therapy. DDX ; optic nerve glioma , optic meningioma Metastatic Tumors (secondary tumors): Malignancies originating in other parts of the body can sometimes spread to the optic nerve or the brain, leading to secondary tumors. Treatment depends on the primary site of cancer and may include surgery, radiation therapy, systemic therapies (e.g., chemotherapy, targeted therapy, immunotherapy), and palliative care.

63. Optic Nerve Glioblastoma Presentation : Optic nerve glioblastoma typically presents with the following signs and symptoms: Gradual or sudden vision loss in one eye. Changes in the appearance of the optic nerve head, visible on fundoscopy . Other neurological signs and symptoms, such as headaches, seizures, or changes in mental status, if the tumor extends beyond the optic nerve.

64. Management : Surgical Resection: Surgical removal may be considered if the tumor is accessible and has not extensively infiltrated the optic nerve and surrounding structures. Radiation Therapy: Radiation therapy may be used to treat the tumor, especially when surgical removal is not feasible. Chemotherapy: Systemic chemotherapy may be used in some cases, either alone or in combination with radiation therapy. Supportive Care: Management may include treatments to control symptoms and support the patient's overall well-being

65. Vascular tumours CAVERNOUS HEMANGIOMA Occurs in middle-aged adults with female preponderance of 70% Accelerated by pregnancy. It is the most common orbital tumor in adults Frequently occurs within the lateral part of the muscle cone behind the globe. Presentation; Slow progressive unilateral axial proptosis, rarely bilateral Optic disc oedema and choroidal folds. Gaze-evoked Blurring of vision Impairment of extraocular muscle excursion.

66. Investigations CT-scan MRI Ultrasound Treatment Observation – for asymptomtic ones Surgical excision- for symptomatic or large lesions NB cavernous hemangioma unlike capillary haemangioma is usually well encapsulated and relatively easy to remove

67. Differential Diagnosis Peripheral nerve sheath tumors (Schwannoma and neurofibroma ) Hemangio pericytoma Fibrous histiocytoma Solitary fibrous tumor melanoma

68. Orbital lymphoma Ocular adnexa lymphomas Constitute approximately 8% of all extra nodal lymphomas Orbital lymphomas are mostly non- Hogdkins lymphomas-80% of B-cell origin Onset is incidious Primary – involving one or both orbits only Secondary- when with identical lesions in the body

69. Diagnosis Clinical features Asymptomatic – but may include discomfort , double vision, bulging eye or visible mass Rubbery consistency Investigations MRI Biopsy Systemic investigations Treatment Radiotherapy- for localized lesion Chemotherapy – disseminated disease and some subtypes Immunotherapy ( rituximab) – newer modality with dominant role Resection for well defined orbital lesions.

70. Differential diagnosis benign lymphoproliferative lesions lymphoid hyperplasia systemic lymphoma metastasis amelanotic melanoma epithelial tumors inflammatory and infectious lesions orbital pseudotumor cavernous hemangioma

71. Cont.. Meningioma (primary tumor with extension): Meningiomas are primary brain or meningeal tumors that can extend to involve the optic nerve. Treatment may include surgical resection, radiation therapy, or observation, depending on the tumor's location, size, and patient factors. Management and prognosis for malignant optic nerve tumors depend on the tumor type, extent, and individual patient factors. Due to the rarity of these tumors, they are often evaluated and managed by a team of specialists, including neuro-ophthalmologists, neurosurgeons, and oncologists.

72. Referrences 1. Kanski’s 9 th edition