a hereditary vitreo-retinopathy disorder

2. CASE PRESENTATION
95.8.29
ALIREZA GHOLIZADE

3. A 28 years man with recent decrease vision
Surgical HX : NEG
Past medical HX : NEG
Drug HX : NEG
FH : NEG
EXAM : OD OS
VA: 1/10 10/10
CONJ: WHITE WHITE
CORNEA: CLEAR CLEAR
A/C : CLEAR NL DEPTH CLEAR NL DEPTH
LENS: CLEAR CLEAR
APD: NEG NEG

17. DDX :
Toxocariasis
retinopathy of prematurity
Posterior persistent fetal vasculature
Coat's disease
Incontinentia pigmenti (Bloch–Sulzberger syndrome)
Norrie’s disease
familial exudative vitreoretinopathy
Combined hamartoma
Chorioretinitis (old)
Goldmann–Favre syndrome,
autosomal-dominant vitreoretinal choriodopathy
idiopathic vitreoretinal degeneration
X-linked juvenile retinoschisis,
idiopathic retinal schisis,
familial internal retinal membrane dystrophy
Stickler syndrome,
Wagner syndrome,

18. TOXOCARIASIS
Toxocariasis is a parasitic infection caused by 1 of 2 roundworms
systemic manifestations such as visceral larval migrans, fever, and eosinophilia are relatively uncommon
Children and young adults are affected
The condition is unilateral in most case
(1) a peripheral granuloma , (2) a posterior pole granuloma , (3) a moderate to severe panuveitis

19. TOXOCARIASIS

20. Retinopathy of Prematurity
The critical components of the history are the birth weigh ,the gestational age a birth,
the current post menstrual age
history of oxygen exposure.
fundus changes be more asymmetric than those that usually occur with ROP.

21. Retinopathy of Prematurity

22. Posterior persistent fetal vasculature
caused by failure of the primary vitreous to regress
The eye may be microphthalmic
A stalk of tissue emanates from the optic disc and courses toward the
retrolental region
almost always unilateral and is more common in males than females

23. Posterior persistent fetal vasculature

24. COATS’ DISEASE
• unilateral, idiopathic retinal vascular abnormality
• telangiectatic retinal vascular abnormaliies in association with lipid exudation.
peak incidence at the end of the first decade
males (85%)
telangiectatic vessels, venous dilation,
microaneurysms, and fusiform capillary dilation are the hallmark findings of Coats’ disease.
• Exudative retinal detachment
• Posterior segment neovascularization is rare

25. Coats’ disease

26. I NCONTINENTIA PIGMENTI
• X-Linked dominant condition that includes ocular, skin, central nervous system, skeletal, dental, and other systemic
abnormalities
• The disease is confined almost exclusively to females
• Characteristic skin changes usually start days after birth, with ophthalmic findings developing in infancy or even
later.
• 1/3 of infants have ocular findings
• Fundus abnormalities include dilated, tortuous retinal vessels, peripheral retinal capillary nonperfusion with
arteriovenous anastomoses and neovascularization ,foveal hypoplasia, branch artery occlusions, neovascularization
of the disc, retinal dragging, tractional and rhegmatogenous retinal detachments, retinal folds, vitreous hemorrhage,
and optic disc pallor
• X-Linked dominant condition that includes ocular, skin, central nervous system, skeletal, dental, and
other systemic abnormalities

27. I NCONTINENTIA PIGMENTI

28. I NCONTINENTIA PIGMENTI

29. NORRIE DISEASE
• Norrie disease is a rare, inherited eye disorder that leads to ocular dysplasia and blindness in male
infants at birth or soon after birth .
• There is commonly shrinkage of the eye during early months of life, as well as cataract formation.
Associated hearing loss and development delays in motor skills, mental retardation, and even
psychosis are often seen in this syndrome

30. NORRIE DISEASE

31. FEVR
• Etiology
• History
• Clinical sign
• DIAGNOSTIC EVALUATION
• Management

32. ETIOLOGY
characterized by failure of the temporal retina to
vascularize
It is usually inherited as an autosomal dominant
trait, but X-linked transmission also occurs.

33. HISTORY
Unlike ROP, there is usually a
family history of the disorder
patients lack a history of prematurity or
oxygen supplementation

34. SIGNS
Stage 1: peripheral avascularity
Stage 2: peripheral vascular tortuosity and
telangiectasia
Stage 3: tractional and/or rhegmatogenous
macularsparing retinal detachment, with or without
exudation
Stages 4 and 5 are macula-involving
bilateral, often asymetric

35. STAGE I

36. STAGE ||

37. STAGE 4-5

38. DIAGNOSTIC EVALUATION
Typical fundus findings are noted on
ophthalmoscopy
examination of the peripheral retina of
asymptomatic family members

39. MANAGEMENT
Laser ablation of avascular retina is recommended
Vitrectomy for retinal detachment
Intravitreal anti-VEGF treatment can be useful