Posterior Segment Cases

1. Posterior Segment Cases For Mcs & MD Exams Prof. Ahmad Mostafa

2. Case 1

3. History • This 34-year-old multigravida (gravida 2 abortion 1) woman was referred by the obstetrician because of seeing patches of darkness in her vision and trouble with seeing at night for the past few days. • She underwent termination of pregnancy one week ago at 22-weeks because of eclampsia. • Prior to the termination, her urine showed 3+ albumin with blood pressure of 160/110 despite medical treatment. • She denied any previous history of ocular problems.

4. Examination • VA: 6/60 (OU) • AS: unremarkable • Fundus examination: Comment R. eye L. eye

5. Qs a. What is the most likely diagnosis? b. Can you explain the appearance seen on the fundi? c. What other conditions may be responsible for poor vision in eclampsia? d. What is the visual prognosis in this patient?

6. Answers • What is the most likely diagnosis? • Choroidal ischaemia caused by hypertensive choroidopathy. • The mechanism being fibrinoid necrosis of the choroidal vessels from acute hypertension. • Eclampsia is diagnosed when a pregnant woman with pre-eclampsia develops comma or seizure. • The syndrome of pre-eclampsia consists of hypertension, proteinuria and oedema in the absence of an underlying microvascular disorder.

7. b. Can you explain the appearance seen on the fundi? • The fundi show patches of yellowish lesions deep in the retina. • These are patches of disturbed retinal pigment epithelium overlying occluded choriocapillaris. • On fluorescein angiography, the choroidal vasculature shows delayed filling or non-perfusion and the yellowish areas will leak fluorescein due to the breakdown of the RPE barrier.

8. c. What other conditions may be responsible for poor vision in eclampsia? • Apart from hypertensive choroidopathy, decreased vision in eclampsia (also in pre-eclampsia) are usually caused by: • serous retinal detachment (from the breakdown of the retinal pigment epithelium barrier) • occipital cortex involvement (this may be caused by vasospasm, ischaemia or oedema from increased vascular permeability, most cases of cortical blindness resolved within 4 hours to 8 days) • Less common causes include: • acute ischaemic optic neuropathy • retinal vasospasm or oedema

9. d. What is the visual prognosis in this patient? • The visual prognosis is good. • Termination of the pregnancy usually improves all the signs of eclampsia. • The retinal pigment epithelium changes resolve within 3 weeks in 80% of the cases. • As these lesions heal, the RPE may become hyperpigmented surrounded by halo of hypopigmentation (Elschnig's spots).

10. Case 2

11. This 48 year old woman has a ten year history of deteriorating vision in both eyes. Her visual acuity was 6/9 in the right eye and 6/18 in the left. Her mother and one of her brothers also suffer from poor vision from the age of 40.

12. Qs a. What is the most likely diagnosis? b. How is this condition transmitted? c. What would you expect to find in the electrophysiology tests? d. What is the visual prognosis for patients with this condition?

13. Answers a. What is the most likely diagnosis? • Central areolar choroidal atrophy • It is a bilateral symmetrical progressive dystrophy. • The early stage of the disease is non-specific with granular hyperpigmentation. • The above pictures show the late stages of the disease. • There are well demarcated area of retinal pigment epithelium atrophy with underlying loss of choriocapillaries leaving behind visible middle and large choroidal vessels.

14. b. How is this condition transmitted? • The condition is an autosomal dominant disease affecting the macula. • The abnormal gene is located in chromosome 17.

15. c. What would you expect to find in the electrophysiology tests? • The ERG and EOG are usually normal.

16. d. What is the visual prognosis for patients with this condition? • Typically the patients present in the third to fourth decade with symptom of central visual disturbance. • The vision decreases as the atrophy progresses resulting in central scotoma by the 6th or 7th decade of life.

17. Case 3

18. This 75 year-old man presented to the eye casualty with a one week history of distorted left vision. His visual acuity was 6/12 in the left eye with the above posterior segment appearance. He had no history of hypertension or diabetes mellitus.

19. Qs a. What is the most likely diagnosis? b. What other condition may be responsible for the above appearance? c. How would you manage this condition?

20. Answers a. What is the most likely diagnosis? • Age-related macular degeneration with subretinal neovascular membrane. • The above picture shows circinate exudate in the macula with a greyish lesion in the centre representing the choroidal neovascular membrane with or without pigment epithelial detachment.

21. b. What other condition may be responsible for the above appearance? • Circinate exudate in the macula can be caused by two mechanisms: • Breakdown of the inner blood retinal barrier (tight junctions between the retinal vascular endothelial cells). For example: diabetes mellitus, retinal vein occlusion, chronic uveitis and radiation retinopathy. • Breakdown of the outer blood retinal barrier (tight junctions between the adjacent retinal pigment epithelial cells). For example: choroidal neovascular membrane due to macular degeneration, choroidal rupture, choroidal melanoma and presumed histoplasmosis syndrome.

22. c. How would you manage this condition? • The patient should be assessed for her suitability for laser treatment which is the only statistically proven effective treatment. • Fluorescein angiography should be requested to look for the type and location of the subretinal neovascular membrane. • Patient who will benefit from laser will be those with classical choroidal neovascularization which is located outside the fovea. • Those with occult choroidal neovascular membrane (in which the membrane is diffuse and poorly defined) or subfoveal lesion are not suitable for laser. • In centre where indocyanine green (ICG) videoangiography is available, those with occult choroidal neovascular membrane as seen on FFA should undergo ICG. • ICG gives a better visualization through the pigment and blood and may localize area of choroidal neovascularization for laser therapy. • The visual prognosis is usually poor even in those who can be treated with laser as the choroidal neovascularization has a high recurrence rate (about 50% within 3 years).

23. Case 4

24. This 72 year-old man was referred by his physician because of diabetic retinopathy. The above picture is the slit-lamp appearance of his right eye.

25. Qs a. What does the picture show? b. What is the histopathology of this condition? c. What is the significance of this condition?

26. Answers • What does the picture show? • There are multiple, tiny, shiny opacities suspended in the vitreous. • The features are typical of asteroid hyalosis.

27. b. What is the histopathology of this condition? • The shiny particles are made up of calcium salts mainly calcium phospate. • They are attached to the collagenous framework of the vitreous and moves with movement of the vitreous.

28. c. What is the significance of this condition? • The condition is a benign degenerative disease of the vitreous and found mainly in people in the sixth and seventh decade of life. • It is unilateral in the majority of cases. • The visual acuity is not affected and the patient rarely complain of symptoms. • Although some authors believe it has an increased incidence in diabetes mellitus (30% of patients with asteroid hyalosis have diabetes mellitus), the two conditions are generally not thought to be connected. • The increased incidence may be due to the fact that the diabetic eyes are looked at more often.

29. Case 5

30. This 55 year-old man was referred by his optician because of the above macular appearance which was found in both eyes. His visual acuity was otherwise normal at 6/6 and there was no metamorphosia.

31. Qs a. What is the diagnosis? b. Is this condition inherited? c. What is the visual prognosis?

32. Answers • What is the diagnosis? • Adult vitelliform macular dystrophy • It is also called adult Best's disease because of the round yellowish subfoveal lesion occurring adult. • Unlike Best's disease, the disease first appears in the fourth and fifth decade of life and the lesion tends to be smaller about 1/3 the size of the optic disc. • In addition, the EOG may be normal which is always abnormal in Best's disease.

33. b. Is this condition inherited? • The condition may be sporadic or inherited in a dominant fashion

34. c. What is the visual prognosis? ● The visual acuity is usually good initially but progresses slowly over the years to 6/18 to 6/36. ● In some cases, the visual acuity may deteriorate further due to formation of choroidal neovascular membranes.

35. Case 6

36. This 24 year-old man was referred by his optician because of this optic disc appearance. His visual acuity was otherwise normal in both eyes.

37. Qs a. What is the diagnosis? b. Give a brief account of its development. c. Is long-term follow-up needed?

38. As a. What is the diagnosis? • Bergmeister‘s papilla.

39. b. Give a brief account of its development. • During the embyrologic life, the hyaloid vasculature extends from the optic nerve through the vitreous and nourishes the developing lens. • It normally regresses completely in later development, but in some individuals remnants of the vasculature remains at the surface of the optic disc as Bergmeister's papilla (cf. Mitterndorf's dot is the anterior remnants of the hyaloid artery and appears as a small opacity at the posterior surface of the lens)

40. c. Is long-term follow-up needed? • Bergmeister's papilla may occasionally be mistaken for disc swelling, it is a benign anomaly and does not interfere with visual function.

41. Case 7

42. This 30 year old woman was referred by her optician because of this left optic disc appearance. She was otherwise fit and well. Her visual acuity was 6/6 in the right eye and 6/12 in the left. Her mother died of brain haemorrhage at the age of 40 and a brother had an operation for renal carcinoma.

43. Qs a. What does the picture show and what is the most likely diagnosis? b. How would you investigate this patient? c. How is this condition inherited? d. What is the visual prognosis of this condition?

44. Answers a. What does the picture show and what is the most likely diagnosis? • There is a round reddish tumour arising from the optic disc. • The appearance is typical of a capillary haemangioma of the optic disc. • The history suggests that this is a von Hippel-Lindau's angioma. • Capillary angioma outside the optic disc usually presents as an orange red tumour fed by a dilated retinal artery and drained by an engorged retinal vein.

45. b. How would you investigate this patient? • Von Hippel-Lindau's syndrome is a type of phakomatosis associated with multiple organ haemangblastoma (including retina, cerebellum, kidney), cysts (in the pancreas, kidney, lung and liver), phaeochromocytoma and renal cell carcinoma. • The investigation show aim to look for potentially life-threatening conditions and this include: • MRI scan for cerebellar haemangioma, phaeochromocytoma and renal cell carcinoma • 24 hours urine VMA for phaeochromocytoma

46. c. How is this condition inherited? • Autosomal dominant condition with incomplete penetrance. • The defect is thought to reside on the short arm of chromosome 3.

47. d. What is the visual prognosis of this condition? • Visual loss and distortion can occur due to formation of exudates in the macula or leakage of fluid producing serous retinal detachment. • Treatment of optic disc capillary haemangioma is difficult as the use of photocoagulation runs the risk of damaging the optic nerve.

48. Case 8

49. This 35 year-old woman presented to the casualty with a one-week history of painful right eye and decreased vision. She was found to have a left iritis and the above fundal appearance.

50. Qs a. What does the picture show? b. What is the most diagnosis? c. What non-invasive investigations would you perform to support your diagnosis? d. How can the above appearance affect the patient's vision?