Less Common Ocular Diseases

1. Less Common Ocular Diseases Kelli Shaon, O.D.

2. Phakomatoses • Neurofibromatosis *** Most common • AKA: von Recklinghausen’s disease • von Hippel-Lindau Syndrome • AKA: Bourneville’s • Tuberous sclerosis • Sturge Weber Syndrome • Wyburn-Mason Syndrome

3. Neurofibromatosis • Type 1: • Café-au-lait spots • Plexiform neurofibromas – “bag of worms” lesions • Optic nerve gliomas • Lisch iris nodules • Type 2: • Bilateral acoustic neuromas • Widely scattered systemic neurofibromas, meningiomas, & gliomas • Ophthalmic findings for Type 2 are much more rare

4. Neurofibromatosis

5. von Hippel-Lindau Syndrome • Systemic disorder that is known to have eye signs… • Retinal capillary hemangiomas • Can cause numerous ocular side effects – highly variable • Death is often by middle age (due to renal cell carcinoma & pheochromocytomas • First clinical signs usually in the mid 20’s

6. von Hippel-Lindau Syndrome

7. Tuberous Sclerosis • Multi-organ tumor syndrome • May demonstrate retinal astrocytic hamartoma • Appearance of calcified mulberry like lesion • Other signs include skin lesions & CNS tumors (can cause seizures or mental retardation) • Skin lesions include: • adenoma sebaceum (vesicular-like lesions on face) • ash leaf spots (hypo-pigmented skin lesions) • shagreen patches in lumbar area

8. Tuberous Sclerosis

9. Sturge Weber Syndrome • Signs/Symptoms: • Port Wine stain -“nevus flammeus” • Choroidal hemangioma • Cerebral hemangioma • Seizure (75-92%) • Glaucoma – especially if facial nevus involves upper eye lid • Thought to be related to episcleral venous pressure secondary to arteriovenous fistulas

10. Sturge Weber Syndrome

11. Wyburn-Mason Syndrome • Not classically considered a phakomatoses • Arteriovenous malformation • Retinal – “Racemose hemangioma” • Very rare but very memorable – • appears as large, worm like vessels covering the retina • Intracranial • Leads to neurological issues & possibly MR

12. Wyburn-Mason Syndrome

13. Other Retinal Vessel Anomalies • Retinal Cavernous Hemangiomas • Coat’s Disease • Leber’s Miliary Aneurysms • Eale’s Disease

14. Retinal Cavernous Hemangioma • Benign retinal hamartoma • Usually asymptomatic & with no visual significance (unless macula involvement) • No systemic associations are known • Appears as a cluster of dark-red intraretinal aneurysms – “Cluster of grapes” • FA shows hypofluorescence & no leakage

15. Coat’s Disease • Unilateral retinal vascular abnormality • Retinal telangiectasias develop aneurysms which releases large amounts of exudations • Affects males>>>females • Often found in children, but some cases in 30’s • Signs/Symptoms: • Leukokoria – “white pupillary reflex” • Strabismus • Poor vision • Telangiectatic, dilated vessels • Large amounts of leakage on FA • Exudative retinal detachments common

16. Coat’s Disease

17. Leber’s Miliary Aneurysms • Presents as a localized cluster of dilated capillaries, aneurysms, and telangiectasias • Hemorrhage and exudation are minimal to absent • Thought to variant of Coat’s but a much less severe form

18. Eale’s Disease • Bilateral periphlebitis (peripheral vascular sheathing) • Can develop capillary nonperfusion • Pathophysiology of Eales disease is unknown • Thought to have some association with the tuberculin protein (TB) • Uncommon disease in US, found more in Middle-east • There is no specific test - Diagnosis of exclusion

19. Dystrophies of the Choroid & Retina • Retinitis Pigmentosa (RP) • Albinism • Best’s Disease • Stargardt’s Disease • Choroideremia • Gyrate Atrophy

20. Retinitis Pigmentosa (RP) • Abnormality of photoreceptor-RPE complex • Inheritance: No family history, AD, AR, or x-linked • History of night blindness, reduced rate of dark adaptation, abnormal ERG results (but VA may be preserved until late stages) • Classic triad: • Mid-peripheral/peripheral “bony spicules” • Arteriole attenuation • “Waxy pallor” of optic nerve head

21. Retinitis Pigmentosa (RP) • Classic triad demonstrated: • Bony spicules • Arteriole attenuation • “Waxy pallor” of ONH

22. Albinism • Oculocutaneous albinism = eyes & skin • Ocular albinism = eyes • Symptoms/Signs: • Nystagmus • Vision is often reduced • High amounts of refractive error w/ astigmatism • Photophobia • Iris transillumination • Foveal hypoplasia • Hypopigmented retina

23. Albinism

24. Best’s Disease • Macular dystrophy that is classified by a larger yellow, yolk-like lesion (vitelliform) at the level of the RPE • Bilateral, often develops in early childhood (but there is a variant that is adult onset) • Thought to some inheritance pattern • Will have a abnormal EOG**

25. Stargardt’s & Fundus Flavimaculatus • Macular dystrophy chatacterized by: • Yellow “pisciform” flecks at level of RPE • Abnormal ERG in later stages • Inheritance pattern; M=F • Decreased visual acuity is main symptom • Stargardt’s = flecks confined to posterior pole & onset is childhood • Fundus Flavimaculatus = flecks throughout the fundus & onset is adulthood

26. Fundus Flavimaculatus

27. Choroideremia • Hereditary degeneration that affects the choriocapillaris & the RPE-photoreceptor complex • Early stages – visible choroidal vessels • Late stages – visible sclera (due to destruction of choroid & retina) • Only males affected & females are carriers (X-inked recessive disease) • Causes impairment of night vision & peripheral vision loss

28. Choroideremia

29. Gyrate Atrophy • Chorioretinal dystrophy • Autosomal recessive inheritance • Is associated with elevated levels of plasma ornithine • Peripheral & mid-peripheral RPE thinning with scalloped borders • Associated with night vision reduction & loss of peripheral vision

30. White Dot Syndromes • Multifocal Choroiditis • Multiple Evanescent White Dot Syndrome (MEWDS) • Birdshot Chorioretinitis • Acute Multifocal Placoid Pigment Epitheliopathy (AMPPE) • Serpiginous Choroiditis

31. Multifocal Choroditis • Bilateral chorioretinal inflammation • Women>>Men • Seen as small yellowish chorioretinal lesions clustered in the posterior pole • Vitritis commonly associated • Often waxes & wanes • Treatment is for the vitritis

32. MEWDS • Unilateral chorioretinopathy • Women most often affected (90%) – (usually younger in age) • Myopic individuals • ½ patients will have flu-like symptoms before • Decreased vision is common complaint • Multiple small outer retinal dots present • Usually resolves spontaneously within a few weeks – No treatment

33. Birdshot Chorioretinitis • Bilateral chororetinitis • Affects Women (usually 40+ yo) • Associated with a (+) HLA-A29 • Decreased vision is common complaint • Multiple, creamy medium sized lesions • Lesions appear to readiate from ONH “like birdshot from a shot-gun” • Treatment: oral steroids & immunosuppressant agents have been used

34. AMPPE • Bilateral chorioretinal inflammation • Younger adults – M=W • Often have decreased vision & h/o viral, flu-like illness • Seen as multiple cream colored lesions in deep retina • No treatment needed – self limited

35. Serpiginous Choroiditis • Inflammatory chorioretinal destruction • Bilateral • M=W; From 2nd to 7th decade of life • Lesions begin in peripapillary region or macula • New lesions often appear at edge of old lesions • Anterior chamber uveitis or vitritis may be present • Patient often present with decreased VA & paracentral or central scotomas • Treatment: systemic & periocular steroids