VON Hippen Lindau disease ocular manifestations

2. MULTIPLE TIME
BOMBS IN A SINGLE
BODY
DR. SALMAN AHMAD KHAN
RESIDENT EYE UNIT 1
DEPARTMENT OF OPHTHALMOLOGY
SIMS/SERVICES HOSPITAL

3. INTRODUCTION
• Name :XYZ
• Age: 19 years
• Sex: Female
• Address: Begumpura near UET, Lahore.
• Occupation: Student
• Mode of admission: OPD

4. HISTORY
• Presenting complaint:
 Decreased vision in right eye: 1 year

5. • History of present illness:
 Gradual, painless central loss of vision progressing
to the periphery for one year in right eye.
 Associated with the floaters.

6. • Past Medical & Surgical history:
 Not significant
• Past ocular history:
 Far glasses: 2 years.

7. • Family history:
 Father and paternal uncle died of brain tumor
 Grand father died of abdominal tumor.

8. • Personal history:
• Student of B.Sc software engineering
• Unmarried
• Socioeconomic history:
 Middle class family

9. EXAMINATION
 General physical examination:
 Pulse : 78/min
 Respiratory rate: 15/min
 Blood pressure: 110/70 mmHg
 Temperature: 98.6 F

10. OCULAR EXAMINATION
Visual acuity Hand Movement
pin hole No imp 6/18 pin hole 6/9
RAPD Positive
E.O.M full full
Lids and conjunctiva normal normal
Cornea clear clear
Anterior chamber quiet quiet
Lens clear clear
Intraocular 10 mmHg 12mm Hg
pressure

11. POSTERIOR SEGMENT

16. FUNDUS FLUORESCEIN ANGIOGRAPHY

18. OCT-OPTICAL COHERENCE
TOMOGRAPHY

19. INVESTIGATIONS-SYSTEMIC

21. MRI
• Brain and spinal cord
• Small meningiomas noted in spinal cord.
• Abdomen
• No significant abnormality detected

22. DIAGNOSTIC CRITERIA-VPL
SYNDROME
Shields CC, Douglas A, Higgings T, Samara WA. Retina today. Ju
ly-Aug. 2015

23. DIAGNOSIS
• Bilateral Retinal Capillary Hemangiomas with Exudative Retinal
detachment in the right eye
• VON HIPPEL-LINDAU syndrome.

24. TREATMENT:
• Oral steroids 1mg per kg body weight for 10 days.
• Right eye: Argon laser photocoagulation was performed
• Left eye: Argon laser photocoagulation was performed
• Consult Neuro-surgeon, General surgeon , physician and
Oncologist.

27. FURTHER TREATMENT
• Right eye: Pars Plana Vitrectomy with Oil
• Left eye: Observe.

28. FAMILY MEMBER SCREENING
• All the siblings were screened
• Detailed ocular examination including fundoscopy and FA was
done.

29. SIBLINGS WORKUP

32. RECOMMENDED FOLLOW UP
PROTOCOL OF PATIENT*
• Annual physical examination
• Annual comprehensive fundus examination.
• Magnetic resonance imaging of brain and spinal cord every 3 years
to age 50 years and every 5 years thereafter.
• Annual renal ultrasound scan, with computed tomography scan
every 3 years and more frequently if multiple renal cysts are
present.
• Annual 24 hour urine collection of vanilylmandelic acid.
*Myron Yanoff and Jay S. Duker. Ophthalmology 4th Ed

33. SCREENING PROTOCOL OF AT RISK
RELATIVES*
• Annual physical examination.
• Annual comprehensive fundus examination from age 5 years.
• Magnetic resonance imaging of brain and spinal cord every 3 years
from age 15 to 50 years until age 60 years.
• Annual renal ultrasound scan, with computed tomography scan
every 3 years from the age 20 through 65 years.
• Annual 24 hour urine collection for vanillylmandelic acid.
*Myron Yanoff and Jay S. Duker. Ophthalmology 4th Ed

34. VON HIPPEL LINDAU SYNDROME
• It is a autosomal dominant condition which is characterized by
visceral cysts and benign tumors in multiple organ systems that
have subsequent potential for malignant change.

36. PATHOPHYSIOLOGY

37. PROGNOSIS
• Progression of retinal capillary hemangiomas in VHLS is highly
variable because of complications.
• Ophthalmic treatment is usually able to preserve good vision in
at least one eye.
• Cause of death intracranial and renal tumors.
• The median age at death in patients who have VHLS is 45–50
years .

38. THANK YOU!!!