1. Ocular Manifestations of
Pediatric Renal Diseases
Nasser Shoeibi, M.Sc.; M.D.
Eye Research Center
MUMS

2. • 14 Y/O lady
• CC: decreased vision in both eyes especially OS since 2 weeks ago
• POH: Neg
• PMH: Anemia (mild)

3. Fundus exam

4. Again I asked questions about the systemic
condition
• No specific medication
• No drug
• No skin or joint disorder
• No cardiac, pulmonary or ENT/CNS/renal symptom
• No Hx of febrile disease

5. Normal OCT

6. • Blood pressure was checked in the clinic:
190/110 mmHg

7. WHY THE KIDNEY AND RETINA SHARE INVOLVEMENT IN
INHERITED/IMMUNOLOGIC DISEASES

8. The Kidney and Eye Share Developmental
Pathways
• PAX and WT1 pathways
• PAX genes encode nuclear transcription
factors that control development of the
kidney, eye, ear, brain, vertebral column and
limb muscles
• The WT1 gene is necessary for ureteric bud
formation and retinal ganglion cell
differentiation
• Renal-coloboma syndrome with vesicoureteric
reflux
• WT1 mutations produce Wilm's tumor (WAGR)

9. The Retinochoroidal Junction Resembles the
Glomerular Filtration Barrier
Basement membrane
Capillaries
Ciliated cells

10. Ciliated Cells
• Cilia transmit mechanosensory, visual, and osmotic stimuli
• Podocytes and RPE cells depend on their primary cilia for specialized cell
functions
• Nephronophthisis
• Bardet-Biedl syndrome
• other clinical features
• Hearing loss
• Abnormal limb and digit development
• Developmental delay
• Liver and respiratory disease
• Infertility

11. Oculorenal disorders
• Malformation/hypoplasia
• Ciliopathies
• Common structural defects
• Metabolic
• Phakomatosis
• Vascular

12. Oculorenal disorders
Malformation/hypoplasia
• Renal-coloboma syndrome
• Wilms tumor-aniridia (WAGR contiguous deletion syndrome)
• CHARGE syndrome
• Alagille syndrome
• Branchio-oto-renal syndrome (BOR)
• Fraser syndrome

14. Oculorenal disorders
Ciliopathies
• Nephronophthisis (NPHP) syndromes
• Senior-Løken syndrome
• Bardet-Biedl syndrome
• Joubert syndrome
• Mainzer-Saldino syndrome

15. Bardet-Biedl syndrome

16. Oculorenal disorders
Common structural defects
• Alport syndrome
• Nail-patella syndrome
• Pierson syndrome
• Williams-Beuren syndrome
• Marfan syndrome
• Alagille syndrome
• IFAP ± BRESHAK syndrome
• Zellweger syndrome

17. 1394: 14 Y/O male referred for eye exam before
initiation of corticosteroid for nephrotic syndrome
• BCVA: 4/10 OU

19. 1397

20. 1397

22. Oculorenal disorders
Metabolic
• Lowe syndrome
• Oxalosis
• Cystinosis
• Lecithin cholesterol acyltransferase (LCAT) deficiency/Norum syndrome
• Osteopetrosis with tubular dysfunction
• Galactosemia
• α-galactosidase A deficiency/Fabry disease
• Familial hypercalciuric hypomagnesemia with nephrocalcinosis (FHHNC)

23. Cystinosis
• Fanconi syndrome

24. Oculorenal disorders
Phakomatosis
• von Hippel-Lindau disease
• Tuberous sclerosis complex

25. von Hippel-Lindau disease

26. Oculorenal disorders
Vascular
• Diabetes mellitus
• Hypertension

27. Oculorenal disorders
Inflammatory
• Tubulointerstitial nephritis and uveitis syndrome (TINU)
• Sjögren syndrome
• Granulomatosis with polyangiitis
(formerly Wegener’s granulomatosis)
• Systemic lupus erythematosus

28. Tubulointerstitial nephritis
and uveitis syndrome (TINU)
• 15 year old girl
• Photophobia , decreased vision
and eye pain
• Proteinuria

29. Corticosteroid therapy
Direct ophthalmic complications
• Cataract formation
• Ocular hypertension and glaucoma
• Delayed corneal epithelial healing
• Reactivation of latent herpetic/fungal infection

30. The effects of ESRD
Ocular calcifications
• Usually asymptomatic
• Typically seen in dialysis patients (takes time to develop)
• Rare and severe : Band keratopathy

31. The effects of ESRD
Cataracts
• up to 50 %
• punctate stippling of the lens cortex (hypocalcemia)

32. The effects of ESRD
Exudative or serous retinal detachment
• Hyponatremia, osmotic disequilibrium, and hypertension→
Obstruction at the choriocapillaris →
Leakage of fluid into the subretinal space

33. Renal dialysis
• The marked fluid shifts and accompanying hypotension
• Potential complications
• Central retinal vein occlusion
• Cortical blindness
• Anterior ischemic optic neuropathy
• Optic neuropathy: due impairments in optic nerve from handling blood pressure
fluctuations as seen in dialysis and renal hypertension.

34. Renal dialysis
• Intraocular pressure (IOP) and intracranial pressure (ICP)
tend to rise with dialysis with IOP even increasing by
13.5 mmHg during hemodialysis

35. Renal dialysis
IOP/ICP rise
• Management
• Less rapid urea removal
• Lower dialysis clearance rates
• Increased frequency of dialysis

36. Ocular complications
• Cataract
• Swollen disk and hypertensive retinopathy
• Increased intra-ocular pressure
Pediatric transplant
•. 2010 Feb;14(1):77-81.
Kidney transplantation

37. Thanks for your attention