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VITREOUS AND RETINA
OVERVIEW
1. Retinoblastoma
2. Persistent hyperplastic primary vitreous (PHPV)
3. Best disease
4. Coats disease
5. Retinopathy of prematurity
6. Stargardts disease
7. Juvenile retinoschisis
8. Familial exudative vitreoretinopathy
10/24/2023 2
RETINOBLASTOMA
 Rare condition
 Most common primary intraocular tumor in children.
 Abnormal red reflex
 Life- threatening disorders
 Incidence of 1: 18,000-30,000 live births
 Common in both genders
 No race predilection
 Unilateral/bilateral
ETIOLOGY
 Retinoblastoma tumors can be either heritable and associated with a germline mutation of the
RB1 gene, or non-heritable.
 Heritable mutations typically present in the 1st year of life with bilateral disease.
 Non-heritable form typically presents slightly later and is primarily unilateral.
VITREOUS AND RETINA PEDIATRIC OCULAR DIESEASES.pptx
Reese Ellsworth’s classification
Group A Solitary tumor, <4 disc diameters in size, at or posterior to the equator of the eye
Multiple tumors, none >4 disc diameters in size, all at or behind the equator.
Group B Solitary tumor, 4 to 10 disc diameters in size, at or behind the equator.
Multiple tumors, 4 to 10 disc diameters in size, behind the equator
Group C Any lesion anterior to the equator.
Solitary tumors >10 disc diameters behind the equator.
Group D Multiple tumors, some >10 disc diameters in size.
Any lesion extending anteriorly to the ora serrata (the serrated junction between the retina
and the ciliary body).
Group E Massive tumors involving over half the retina.
Vitreous seeding.
CLINICAL FEATURES
Symptoms:
 Usually, no symptoms occur; however, redness and irritation of the eye and eyelids may occur
in advanced cases.
 Vision may be decreased
Signs:
 Leukocoria
 Exotropia or esotropia
 White dome-shaped mass that is endophytic (grows from the retina into the vitreous cavity),
exophytic (grows from the retina into the subretinal space), or diffusely infiltrating
 Dilated and tortuous retinal arteries and veins feeding the tumor
 Vitreous seeds
 Iris nodules
 Clear lens
DIFFERENTIAL DIAGNOSIS
INVESTIGATIONS
 Fundus Fluorescein Angiography
 B Scan
 MRI
 CT-Scan
 Genetic counselling
 Complete blood count
MANAGEMENT
 Small tumors - laser treatment, cryotherapy, and radioactive plaque treatment, combined with
chemotherapy in some cases, may restore vision or save the eye.
 Orbital extension - radiation therapy and chemotherapy
 Distant metastases - prognosis is worse but chemotherapy and radiation therapy have a
significant success rate.
 Advanced ocular tumors - removal of the eye (enucleation) is performed.
PERSISTENT HYPERPLASTIC PRIMARY
VITREOUS (PHPV)
 PHPV is a congenital anomaly in which the primary vitreous fails to regress in utero
 High vascular mesenchymal tissues nurtures the developing lens during intrauterine life
 In PHPV the mesenchymal tissues forms a mass behind the lens
PATHOPHYSIOLOGY
 During the period of embryonic development of the eye the compartment between the retina
and crystalline lens contains vascular system (hyaloid artery) that provides nutrient are
supposed to regress in the 3rd trimester
 Failure of fetal vascular to regress over due to somatic mutation
CLINICAL FEATURES
 Strabismus
 Nystagmus
 Amblyopia
 Leukocoria
 Posterior polar Cataract
 RD
DIAGNOSIS
 B-SCAN ,MRI, a cone shape retinolental density is a characteristic finding on PHPV on imaging
studies
 Fluorescein angiography with silt lamp shows location of abnormal vasculature the brittle star
configuration
 Peripheral retinal capillary non perfusion may also be noted in ROP
COMPLICATION
 Untreated PHPV results in glaucoma and phthisis bulbi
 Recurrent hyphema in angle-Glaucoma
 PHPV eyes with myopia have less media opacity, normal corneal diameters are detected late
and have good visual prognosis
MANAGEMENT
 Visual rehabilitation – aphakia contact lens and amblyopia therapy
 Lensectomy
 Anterior or total vitrectomy
BEST DISEASE
 AD
 Mutation of BEST1-Bestrophin 1 (transmembrane protein)
 Located predominantly at the basolateral membrane of the RPE
 Characteristic presentation is by bilateral fundus changes of egg-yolk appearance
 RPE is primarily affected
 Symptomless in early stages-gradual decrease in advance stages
PATHOPHYSIOLOGY
 There is deposition of lipofuscin within the RPE, the subretinal space, and the photoreceptor
zone
 A break/disturbance in the RPE/Bruch's membrane results in a late complication of a choroidal
neovascular membrane (CNVM)
STAGES
Normal
Pre Vitelli form stage- yellowish dot at fovea
Vitelli form stage- blister on your macula
area which looks similar to an egg yolk, fluid cyst
Psuedohypopyon- yellow matter which causes the egg yolk- like blister can
breakthrough a layer under your retina.
Vitellirupture- lesion begins to break up and can cause damage to some of
the cells in the layers of your retina.
Atrophic stage- yellow material withdraw and disappear, scarring, CNVM
VITREOUS AND RETINA PEDIATRIC OCULAR DIESEASES.pptx
VITREOUS AND RETINA PEDIATRIC OCULAR DIESEASES.pptx
EOG
The Arden ratio (light–dark ratio) is typically less than 1.5 and often near 1.1
COATS DISEASE
 Unilateral 90%
 Young boys <20
 Peak incidence at 6 to 8 years
 No racial,genetic or familial predisposition
 1st described by George coats in 1908
 Leaking telangiectatic and aneurysmal vessels with intraretinal and subretinal exudation
ETIOLOGY
 Unknown
 If a female with unilateral coats disease gave birth to a son with norrie disease
Somatic mutation in NPD gene
Deficiency of norrin
Abnormal retinal vasulogenesis
PATHOPHYSIOLOGY
 Degeneration of abnormal endothelial cells
 Telangiectesia – saccular or fusiform aneurysm
 Loss of blood retinal barrier – exudation ( rich in cholesterol, macrophages, few erythrocytes and min
hemosiderin)
 Massive exudation – exudative RD
 Fibrous submacular nodules (50%) – proliferation and metaplasia in RPE
CLASSIFICATION
Stage 1
Retinal telangiectasia only
Stage 2
Telangiectasia and exudation
1.Extrafoveal exudation
2.Foveal exudation
Stage 3
Exudative RD
1.Subtotal detachment
a. extrafoveal
b. foveal
2.Total retinal detachment
Stage 4
Total retinal detachment and glaucoma
Stage 5
Advanced end stage disease
DIAGNOSIS
 Birth history
 Medical history ROP, Retinoblastoma
 Family history
 Slit lamp examination – congenital cataract , PHPV
 Characteristics ophthalmoscopic feature
 Fluorescein angiography
 CT
 MRI
Secondary complications
1.Rubeosis iridis
2.Neovascular glaucoma
3.Cataract
4.Uveitis
Differential diagnosis
1.Retinoblastoma
2.PHPV
3.ROP
4.Congenital cataract
5.Norrie’s disease
MANAGEMENT
AIM – Eliminate abnormal retinal vessels
To know about the severity and stages of disease and location of lesion
1.Laser photocoagulation
2.Cryotherapy
Surgery
Pars plana vitrectomy – removal of tractional / epiretinal membrane
RETINOPATHY OF PREMATURITY (ROP)
 Affects premature low birth weight infants (<37 weeks or 8.5 months)
 Early exposure to high ambient oxygen concentrations – key risk
 In-complete development of retinal circulation, leading to growth of abnormal new blood
vessels
NORMAL RETINAL DEVELOPMENT
Retina has no blood
vessels until the
fourth month of
gestation
Where vascular
complexes grow from
optic disc hyaloid
vessels towards the
periphery
Nasal retina –after 8
months of gestation
and temporal
periphery at or by 1
month after delivery
10/24/2023 34
PATHOPHYSIOLOGY
10/24/2023 35
SYMPTOMS AND SIGNS
Nystagmus
White
reflex -
leukocoria
Strabismus Amblyopia
Not
responding
to light
Severe
myopia
10/24/2023 36
ZONES
10/24/2023 37
STAGES OF ROP – based on severity of
disease
 Stage 1: Demarcation line
 Stage 2: Ridge present
 Stage 3: Fibro vascular proliferation
 Stage 4: Partial retinal detachment
 Stage 5: Total retinal detachment
Plus disease refers to presence of tortuous dilated vessels at posterior pole with any stage of ROP.
10/24/2023 38
10/24/2023 39
PLUS DISEASE
 ‘Plus’ disease - dilatation and
tortuosity of blood vessels involving at
least two quadrants of the posterior
fundus with any stage of ROP.
 Other features include failure of the
pupil to dilate and vitreous haze
 Iris neovascularisation
10/24/2023 40
TREATMENT
 Objectives:ablation of avascular retina to
• ↓ O2 demand
• ↓ production of VEGF
• induce a regression of the ROP
 CRYO-THERAPY & PHOTOCOAGULATION (LASER)
 ANTI VEGF TREATMENT (Bevacizumab- Avastin)
 INSULIN GROWTH FACTOR-1 (IGF-1)- enable child growth
 POLYUNSATURATED FATTY ACIDS –nutritional supplements
 PROPRANOLOL-prevent heart disease, HTN
10/24/2023 41
SURGICAL TREATMENT
 Stage 1 and 2: Since spontaneous regression of disease occurs in 80 to 90% of cases, so only a
weekly examination is recommended.
 Stage 3: Should be treated by cryo or laser to prevent progression and to achieve regression.
 Stage 4: Scleral buckling is recommended in addition to cryo or laser therapy.
 Stage 5: Vitrectomy needs to be carried out in this stage. Prognosis is poor.
10/24/2023 42
STARGARDTS DISEASE
 Inherited disorder of retina.
 Vision loss during childhood or adolescence.
 AUTOSOMAL RECESSIVE disease.
 Progressive damage/degeneration of macula.
10/24/2023 43
RISK FACTORS
 Toxic agents
• Injury
• Infection
• Exposure
Unprotected prolonged exposure to light
10/24/2023 44
PATHOPHYSIOLOGY
 Stargardt’s diseases the most inherited macular dystrophy in both adults and children's.
 STGD1 has an autosomal recessive mode of inheritance associated with disease causing
mutation in the ABCA4 gene.
 It is both clinically and genetically highly heterogeneous.
 The disease is associated with accumulation of fluorescent lipofuscin pigments in cells of the
RPE.
10/24/2023 45
10/24/2023 46
SYMPTOMS SIGNS
Slow loss of central vision in both eyes The fundus shows bull’s eye pattern
Gray black or hazy spots in central of their
vision
With or without yellowish flecks (fundus
flavimaculatus)
Takes longer time to adjust when moving light
to dark environment
On fundus autofluorescence (FAF), newer
flecks appear hyper autofluoresent
Sensitive to bright Fluorescein angiography may show dark
choroid
Color vision defect
10/24/2023 47
10/24/2023 48
INVESTIGATIONS
 FAF and OCT findings :Fundus
autofluorescence photograph
shows mottled areas of
hyperautofluorescence and
hypofluorescence,corresponding to
areas of lipofusin accumulation and
RPE atrophy.
 SDOCT: Horizontal and vertical
sections through the fovea reveal
parafoveal disruption of outer
retinal layers.
10/24/2023 49
FFA
10/24/2023 50
10/24/2023
TANNA, P., STRAUSS, R. W., FUJINAMI, K., & MICHAELIDES, M. (2017). STARGARDT DISEASE:
CLINICAL FEATURES, MOLECULAR GENETICS, ANIMAL MODELS AND THERAPEUTIC OPTIONS. THE
BRITISH JOURNAL OF OPHTHALMOLOGY, 101(1), 25–30.
51
TREATMENT
 Dark glasses and hats when out in bright light to reduce the buildup of lipofuscin.
 Cigarette smoking should be avoided.
 Gene therapy provides hope for future treatment options.
10/24/2023
HTTPS://WWW.NEI.NIH.GOV/LEARN-ABOUT-EYE-HEALTH/EYE-CONDITIONS-AND-
DISEASES/STARGARDT-DISEASE
52
JUVENILE RETINOSCHISIS
 X-linked Retinoschisis, or X-Linked Juvenile Retinoschisis
 Rare congenital disease of the retina caused by mutations in the RS1 gene, which encodes
retinoschisin, a protein involved in intercellular adhesion and likely retinal cellular organization.
 X-linked retinoschisis has also been referred to as: juvenile retinoschisis, congenital
retinoschisis, juvenile macular degeneration/dystrophy, degenerative retinoschisis, and vitreous
veils of the retina.
10/24/2023 53
PATHOPHYSIOLOGY
 X-linked retinoschisis is linked to mutations in RS1. The gene encodes a 224-amino acid protein
called retinoschisin, which is secreted by photoreceptors.
 This protein is found throughout the retina, and is thought to be involved in cell-cell adhesion
and intercellular matrix retinal architecture development through interactions with αβ crystallin
and β2-laminin.
 On histopathological examination, the splitting in X-linked retinoschisis occurs predominantly in
the nerve fiber layer.
 Splitting of neurosensory retina
10/24/2023 HTTPS://EYEWIKI.AAO.ORG/X-LINKED_RETINOSCHISIS 54
SIGNS AND SYMPTOMS
 Gradual decrease in vision
 Poor vision due to foveal schisis
 Peripheral schisis will cause RD and vitreous hemorrhage
 Non-leaking fovea with cyst
10/24/2023 55
INVESTIGATIONS
 Digital fundus photography: may help with examination of a child
 Red-free illumination: may help to highlight the area of foveal schisis
 Fundus autofluorescence: increased fundus autofluorescence helps to highlight areas of foveal
schisis
 OCT: schisis in the superficial neural retina and thinning of the retina. Small cystic-like spaces
 FFA: can differentiate foveoschisis from CME, which can show petaloid macular leakage
ffERG: reduced b-wave with preserved a-wave, “negative waveform”. the a-wave may be
reduced as the disease progresses.
10/24/2023
HTTPS://EYEWIKI.AAO.ORG/X-LINKED_RETINOSCHISIS
56
10/24/2023 57
10/24/2023 58
ERG – Negative
waveform in combined
response
TREATMENT
 For those <10 years old: Annual evaluation by a pediatric ophthalmologist or retina specialist.
 Patient education: Avoid head trauma and high-contact/impact sports due to the increased risk
of retinal detachment/Vitreous hemmorhage
 Amblyopia
 Genetic counseling: Female carriers have a 50% chance of passing the mutation. Male patients
should be counseled that they will pass the mutation to all daughters
 For those with low vision: low vision aids
10/24/2023 59
FAMILIAL EXUDATIVE
VITREORETINOPATHY (FEVR)
 Inherited vitreoretinal disorder characterized by incomplete or anomalous vascularization of
the peripheral retina
 It is usually inherited as an autosomal dominant trait, but X-linked transmission also occurs
 HISTORY: Unlike ROP, there is usually a family history of the disorder patients lack a history of
prematurity or oxygen supplementation
10/24/2023 60
PATHOPHYSIOLOGY
10/24/2023
FAMILIAL EXUDATIVE VITREORETINOPATHY - AMERICAN ACADEMY OF OPHTHALMOLOGY-
OPHTHALMIC PEARLS
61
In normal development,
vasculogenesis begins
Angiogenesis Occurs
This process is mediated
by VEGF
Most genes associated
with FEVR affect
pathways - retinal
vasculature via
angiogenesis
The gene mutations in
FEVR lead to incomplete
or anomalous vascu-
larization of the
peripheral retina
SYMPTOMS
10/24/2023
HTTPS://WWW.ASRS.ORG/PATIENTS/RETINAL-DISEASES/15/FAMILIAL-EXUDATIVE-
VITREORETINOPATHY
62
Retinal
detachment
Vision
loss/blindness
leukocoria
Strabismus,
Amblyopia
SIGNS
STAGES
Peripheral
vascularity
Peripheral
vascular
tortuosity and
telangiectasia
Tractional/rhe
gmatogenous
macula
sparing RD
With or
without
exudation
Macular
involving
bilateral
Macular
involving
bilateral, often
asymmetric
10/24/2023 63
CLASSIFICATION
10/24/2023
FAMILIAL EXUDATIVE VITREORETINOPATHY - AMERICAN ACADEMY OF OPHTHALMOLOGY-
OPHTHALMIC PEARLS 64
10/24/2023 65
TREATMENT
10/24/2023 66
 Stage 1 can be managed with observation for signs of neovascularization
 Stage 2 to 5, the goal is to prevent the progression and sequelae of neovascularization. Laser
photocoagulation and/or cryotherapy to address neovascularization are indicated in stage 2.
 Anti-VEGF therapy may decrease hemorrhage and exudation
 Surgical techniques include pars plana vitrectomy, scleral buckling, or a combination of both
with or without lensectomy for RD
THANK YOU
10/24/2023 67

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VITREOUS AND RETINA PEDIATRIC OCULAR DIESEASES.pptx

  • 2. OVERVIEW 1. Retinoblastoma 2. Persistent hyperplastic primary vitreous (PHPV) 3. Best disease 4. Coats disease 5. Retinopathy of prematurity 6. Stargardts disease 7. Juvenile retinoschisis 8. Familial exudative vitreoretinopathy 10/24/2023 2
  • 3. RETINOBLASTOMA  Rare condition  Most common primary intraocular tumor in children.  Abnormal red reflex  Life- threatening disorders  Incidence of 1: 18,000-30,000 live births  Common in both genders  No race predilection  Unilateral/bilateral
  • 4. ETIOLOGY  Retinoblastoma tumors can be either heritable and associated with a germline mutation of the RB1 gene, or non-heritable.  Heritable mutations typically present in the 1st year of life with bilateral disease.  Non-heritable form typically presents slightly later and is primarily unilateral.
  • 6. Reese Ellsworth’s classification Group A Solitary tumor, <4 disc diameters in size, at or posterior to the equator of the eye Multiple tumors, none >4 disc diameters in size, all at or behind the equator. Group B Solitary tumor, 4 to 10 disc diameters in size, at or behind the equator. Multiple tumors, 4 to 10 disc diameters in size, behind the equator Group C Any lesion anterior to the equator. Solitary tumors >10 disc diameters behind the equator. Group D Multiple tumors, some >10 disc diameters in size. Any lesion extending anteriorly to the ora serrata (the serrated junction between the retina and the ciliary body). Group E Massive tumors involving over half the retina. Vitreous seeding.
  • 7. CLINICAL FEATURES Symptoms:  Usually, no symptoms occur; however, redness and irritation of the eye and eyelids may occur in advanced cases.  Vision may be decreased
  • 8. Signs:  Leukocoria  Exotropia or esotropia  White dome-shaped mass that is endophytic (grows from the retina into the vitreous cavity), exophytic (grows from the retina into the subretinal space), or diffusely infiltrating  Dilated and tortuous retinal arteries and veins feeding the tumor  Vitreous seeds  Iris nodules  Clear lens
  • 10. INVESTIGATIONS  Fundus Fluorescein Angiography  B Scan  MRI  CT-Scan  Genetic counselling  Complete blood count
  • 11. MANAGEMENT  Small tumors - laser treatment, cryotherapy, and radioactive plaque treatment, combined with chemotherapy in some cases, may restore vision or save the eye.  Orbital extension - radiation therapy and chemotherapy  Distant metastases - prognosis is worse but chemotherapy and radiation therapy have a significant success rate.  Advanced ocular tumors - removal of the eye (enucleation) is performed.
  • 12. PERSISTENT HYPERPLASTIC PRIMARY VITREOUS (PHPV)  PHPV is a congenital anomaly in which the primary vitreous fails to regress in utero  High vascular mesenchymal tissues nurtures the developing lens during intrauterine life  In PHPV the mesenchymal tissues forms a mass behind the lens
  • 13. PATHOPHYSIOLOGY  During the period of embryonic development of the eye the compartment between the retina and crystalline lens contains vascular system (hyaloid artery) that provides nutrient are supposed to regress in the 3rd trimester  Failure of fetal vascular to regress over due to somatic mutation
  • 14. CLINICAL FEATURES  Strabismus  Nystagmus  Amblyopia  Leukocoria  Posterior polar Cataract  RD
  • 15. DIAGNOSIS  B-SCAN ,MRI, a cone shape retinolental density is a characteristic finding on PHPV on imaging studies  Fluorescein angiography with silt lamp shows location of abnormal vasculature the brittle star configuration  Peripheral retinal capillary non perfusion may also be noted in ROP
  • 16. COMPLICATION  Untreated PHPV results in glaucoma and phthisis bulbi  Recurrent hyphema in angle-Glaucoma  PHPV eyes with myopia have less media opacity, normal corneal diameters are detected late and have good visual prognosis
  • 17. MANAGEMENT  Visual rehabilitation – aphakia contact lens and amblyopia therapy  Lensectomy  Anterior or total vitrectomy
  • 18. BEST DISEASE  AD  Mutation of BEST1-Bestrophin 1 (transmembrane protein)  Located predominantly at the basolateral membrane of the RPE  Characteristic presentation is by bilateral fundus changes of egg-yolk appearance  RPE is primarily affected  Symptomless in early stages-gradual decrease in advance stages
  • 19. PATHOPHYSIOLOGY  There is deposition of lipofuscin within the RPE, the subretinal space, and the photoreceptor zone  A break/disturbance in the RPE/Bruch's membrane results in a late complication of a choroidal neovascular membrane (CNVM)
  • 20. STAGES Normal Pre Vitelli form stage- yellowish dot at fovea Vitelli form stage- blister on your macula area which looks similar to an egg yolk, fluid cyst Psuedohypopyon- yellow matter which causes the egg yolk- like blister can breakthrough a layer under your retina. Vitellirupture- lesion begins to break up and can cause damage to some of the cells in the layers of your retina. Atrophic stage- yellow material withdraw and disappear, scarring, CNVM
  • 23. EOG The Arden ratio (light–dark ratio) is typically less than 1.5 and often near 1.1
  • 24. COATS DISEASE  Unilateral 90%  Young boys <20  Peak incidence at 6 to 8 years  No racial,genetic or familial predisposition  1st described by George coats in 1908  Leaking telangiectatic and aneurysmal vessels with intraretinal and subretinal exudation
  • 25. ETIOLOGY  Unknown  If a female with unilateral coats disease gave birth to a son with norrie disease Somatic mutation in NPD gene Deficiency of norrin Abnormal retinal vasulogenesis
  • 26. PATHOPHYSIOLOGY  Degeneration of abnormal endothelial cells  Telangiectesia – saccular or fusiform aneurysm  Loss of blood retinal barrier – exudation ( rich in cholesterol, macrophages, few erythrocytes and min hemosiderin)  Massive exudation – exudative RD  Fibrous submacular nodules (50%) – proliferation and metaplasia in RPE
  • 27. CLASSIFICATION Stage 1 Retinal telangiectasia only Stage 2 Telangiectasia and exudation 1.Extrafoveal exudation 2.Foveal exudation
  • 28. Stage 3 Exudative RD 1.Subtotal detachment a. extrafoveal b. foveal 2.Total retinal detachment
  • 29. Stage 4 Total retinal detachment and glaucoma Stage 5 Advanced end stage disease
  • 30. DIAGNOSIS  Birth history  Medical history ROP, Retinoblastoma  Family history  Slit lamp examination – congenital cataract , PHPV  Characteristics ophthalmoscopic feature  Fluorescein angiography  CT  MRI
  • 33. MANAGEMENT AIM – Eliminate abnormal retinal vessels To know about the severity and stages of disease and location of lesion 1.Laser photocoagulation 2.Cryotherapy Surgery Pars plana vitrectomy – removal of tractional / epiretinal membrane
  • 34. RETINOPATHY OF PREMATURITY (ROP)  Affects premature low birth weight infants (<37 weeks or 8.5 months)  Early exposure to high ambient oxygen concentrations – key risk  In-complete development of retinal circulation, leading to growth of abnormal new blood vessels NORMAL RETINAL DEVELOPMENT Retina has no blood vessels until the fourth month of gestation Where vascular complexes grow from optic disc hyaloid vessels towards the periphery Nasal retina –after 8 months of gestation and temporal periphery at or by 1 month after delivery 10/24/2023 34
  • 36. SYMPTOMS AND SIGNS Nystagmus White reflex - leukocoria Strabismus Amblyopia Not responding to light Severe myopia 10/24/2023 36
  • 38. STAGES OF ROP – based on severity of disease  Stage 1: Demarcation line  Stage 2: Ridge present  Stage 3: Fibro vascular proliferation  Stage 4: Partial retinal detachment  Stage 5: Total retinal detachment Plus disease refers to presence of tortuous dilated vessels at posterior pole with any stage of ROP. 10/24/2023 38
  • 40. PLUS DISEASE  ‘Plus’ disease - dilatation and tortuosity of blood vessels involving at least two quadrants of the posterior fundus with any stage of ROP.  Other features include failure of the pupil to dilate and vitreous haze  Iris neovascularisation 10/24/2023 40
  • 41. TREATMENT  Objectives:ablation of avascular retina to • ↓ O2 demand • ↓ production of VEGF • induce a regression of the ROP  CRYO-THERAPY & PHOTOCOAGULATION (LASER)  ANTI VEGF TREATMENT (Bevacizumab- Avastin)  INSULIN GROWTH FACTOR-1 (IGF-1)- enable child growth  POLYUNSATURATED FATTY ACIDS –nutritional supplements  PROPRANOLOL-prevent heart disease, HTN 10/24/2023 41
  • 42. SURGICAL TREATMENT  Stage 1 and 2: Since spontaneous regression of disease occurs in 80 to 90% of cases, so only a weekly examination is recommended.  Stage 3: Should be treated by cryo or laser to prevent progression and to achieve regression.  Stage 4: Scleral buckling is recommended in addition to cryo or laser therapy.  Stage 5: Vitrectomy needs to be carried out in this stage. Prognosis is poor. 10/24/2023 42
  • 43. STARGARDTS DISEASE  Inherited disorder of retina.  Vision loss during childhood or adolescence.  AUTOSOMAL RECESSIVE disease.  Progressive damage/degeneration of macula. 10/24/2023 43
  • 44. RISK FACTORS  Toxic agents • Injury • Infection • Exposure Unprotected prolonged exposure to light 10/24/2023 44
  • 45. PATHOPHYSIOLOGY  Stargardt’s diseases the most inherited macular dystrophy in both adults and children's.  STGD1 has an autosomal recessive mode of inheritance associated with disease causing mutation in the ABCA4 gene.  It is both clinically and genetically highly heterogeneous.  The disease is associated with accumulation of fluorescent lipofuscin pigments in cells of the RPE. 10/24/2023 45
  • 47. SYMPTOMS SIGNS Slow loss of central vision in both eyes The fundus shows bull’s eye pattern Gray black or hazy spots in central of their vision With or without yellowish flecks (fundus flavimaculatus) Takes longer time to adjust when moving light to dark environment On fundus autofluorescence (FAF), newer flecks appear hyper autofluoresent Sensitive to bright Fluorescein angiography may show dark choroid Color vision defect 10/24/2023 47
  • 49. INVESTIGATIONS  FAF and OCT findings :Fundus autofluorescence photograph shows mottled areas of hyperautofluorescence and hypofluorescence,corresponding to areas of lipofusin accumulation and RPE atrophy.  SDOCT: Horizontal and vertical sections through the fovea reveal parafoveal disruption of outer retinal layers. 10/24/2023 49
  • 51. 10/24/2023 TANNA, P., STRAUSS, R. W., FUJINAMI, K., & MICHAELIDES, M. (2017). STARGARDT DISEASE: CLINICAL FEATURES, MOLECULAR GENETICS, ANIMAL MODELS AND THERAPEUTIC OPTIONS. THE BRITISH JOURNAL OF OPHTHALMOLOGY, 101(1), 25–30. 51
  • 52. TREATMENT  Dark glasses and hats when out in bright light to reduce the buildup of lipofuscin.  Cigarette smoking should be avoided.  Gene therapy provides hope for future treatment options. 10/24/2023 HTTPS://WWW.NEI.NIH.GOV/LEARN-ABOUT-EYE-HEALTH/EYE-CONDITIONS-AND- DISEASES/STARGARDT-DISEASE 52
  • 53. JUVENILE RETINOSCHISIS  X-linked Retinoschisis, or X-Linked Juvenile Retinoschisis  Rare congenital disease of the retina caused by mutations in the RS1 gene, which encodes retinoschisin, a protein involved in intercellular adhesion and likely retinal cellular organization.  X-linked retinoschisis has also been referred to as: juvenile retinoschisis, congenital retinoschisis, juvenile macular degeneration/dystrophy, degenerative retinoschisis, and vitreous veils of the retina. 10/24/2023 53
  • 54. PATHOPHYSIOLOGY  X-linked retinoschisis is linked to mutations in RS1. The gene encodes a 224-amino acid protein called retinoschisin, which is secreted by photoreceptors.  This protein is found throughout the retina, and is thought to be involved in cell-cell adhesion and intercellular matrix retinal architecture development through interactions with αβ crystallin and β2-laminin.  On histopathological examination, the splitting in X-linked retinoschisis occurs predominantly in the nerve fiber layer.  Splitting of neurosensory retina 10/24/2023 HTTPS://EYEWIKI.AAO.ORG/X-LINKED_RETINOSCHISIS 54
  • 55. SIGNS AND SYMPTOMS  Gradual decrease in vision  Poor vision due to foveal schisis  Peripheral schisis will cause RD and vitreous hemorrhage  Non-leaking fovea with cyst 10/24/2023 55
  • 56. INVESTIGATIONS  Digital fundus photography: may help with examination of a child  Red-free illumination: may help to highlight the area of foveal schisis  Fundus autofluorescence: increased fundus autofluorescence helps to highlight areas of foveal schisis  OCT: schisis in the superficial neural retina and thinning of the retina. Small cystic-like spaces  FFA: can differentiate foveoschisis from CME, which can show petaloid macular leakage ffERG: reduced b-wave with preserved a-wave, “negative waveform”. the a-wave may be reduced as the disease progresses. 10/24/2023 HTTPS://EYEWIKI.AAO.ORG/X-LINKED_RETINOSCHISIS 56
  • 58. 10/24/2023 58 ERG – Negative waveform in combined response
  • 59. TREATMENT  For those <10 years old: Annual evaluation by a pediatric ophthalmologist or retina specialist.  Patient education: Avoid head trauma and high-contact/impact sports due to the increased risk of retinal detachment/Vitreous hemmorhage  Amblyopia  Genetic counseling: Female carriers have a 50% chance of passing the mutation. Male patients should be counseled that they will pass the mutation to all daughters  For those with low vision: low vision aids 10/24/2023 59
  • 60. FAMILIAL EXUDATIVE VITREORETINOPATHY (FEVR)  Inherited vitreoretinal disorder characterized by incomplete or anomalous vascularization of the peripheral retina  It is usually inherited as an autosomal dominant trait, but X-linked transmission also occurs  HISTORY: Unlike ROP, there is usually a family history of the disorder patients lack a history of prematurity or oxygen supplementation 10/24/2023 60
  • 61. PATHOPHYSIOLOGY 10/24/2023 FAMILIAL EXUDATIVE VITREORETINOPATHY - AMERICAN ACADEMY OF OPHTHALMOLOGY- OPHTHALMIC PEARLS 61 In normal development, vasculogenesis begins Angiogenesis Occurs This process is mediated by VEGF Most genes associated with FEVR affect pathways - retinal vasculature via angiogenesis The gene mutations in FEVR lead to incomplete or anomalous vascu- larization of the peripheral retina
  • 63. SIGNS STAGES Peripheral vascularity Peripheral vascular tortuosity and telangiectasia Tractional/rhe gmatogenous macula sparing RD With or without exudation Macular involving bilateral Macular involving bilateral, often asymmetric 10/24/2023 63
  • 64. CLASSIFICATION 10/24/2023 FAMILIAL EXUDATIVE VITREORETINOPATHY - AMERICAN ACADEMY OF OPHTHALMOLOGY- OPHTHALMIC PEARLS 64
  • 66. TREATMENT 10/24/2023 66  Stage 1 can be managed with observation for signs of neovascularization  Stage 2 to 5, the goal is to prevent the progression and sequelae of neovascularization. Laser photocoagulation and/or cryotherapy to address neovascularization are indicated in stage 2.  Anti-VEGF therapy may decrease hemorrhage and exudation  Surgical techniques include pars plana vitrectomy, scleral buckling, or a combination of both with or without lensectomy for RD

Editor's Notes

  1. Leucocoria – occur due to dense retrolenticular membrane or cataractous lens Strabismus – present at birth or develop shortly VA near normal PHPV unilateral Occasionally RD
  2. A secondary glaucoma can also be produced from recurrent hyphema, which scars the outflow passageways in the angle. By removing the PHPV membrane and reducing the tractional forces applied to the ciliary body by the membrane, one can lessen the possibility of phthisis
  3. With rehab useful vision can be obtained in the majority of patients with both anterior and posterior persistent fetal vasculature Effective management of the anisometropic amblyopia requires motivated patient to ensure compliance with occulusive therapy as well as parents willing to attennumerous visit to eye specialists
  4. Fundus fluorescein angiogram (FFA)- FFA is crucial to rule out choroidal neovascular membrane (CNVM) which shows fluorescence that increases in size and intensity with time
  5. Shields et.al 2001 for selecting treatment and predicting outcome.
  6. The retina has no blood vessels until the fourth month of gestation, when vascular complexes grow from optic disc hyaloid vessels towards the periphery. The nasal retina is normally fully vascularized after 8 months of gestation, the temporal periphery at or by 1 month after delivery.
  7. Vascular endothelial growth factor (VEGF) is believed to play an important role in the vascularization process
  8. Severity of ROP can be graded based on the location of vasculature. Ora serrata is the junction between the choroid and ciliary body Zone I is bounded by an imaginary circle, the radius of which is twice the distance from the disc to the centre of the macula. • Zone II extends concentrically from the edge of zone I; its radius extends from the centre of the disc to the nasal ora serrata. • Zone III consists of a residual temporal crescent anterior to zone II
  9. Stage 1 (demarcation line) is a thin, flat, tortuous, grey-white line running roughly parallel with the ora serrata. It is more prominent in the temporal periphery. There is abnormal branching or ‘arcading’ of vessels leading up to the line Stage 2 (ridge) arises in the region of the demarcation line. Blood vessels enter the ridge and small isolated neovascular tufts may be seen posterior to it Stage 3 (extraretinal fibrovascular proliferation) extends from the ridge into the vitreous. The severity of stage 3 can be subdivided into mild, moderate and severe depending on the extent of extraretinal fibrous tissue infiltrating the vitreous. Stage 4 (partial retinal detachment) The detachment is generally concave and circumferentially orientated. In progressive cases the fibrous tissue continues to contract and the detachment increases in height and extends anteriorly and posteriorly Stage 5 refers to total retinal detachment
  10. ‘Plus’ disease signifies a tendency to progression and is characterized by dilatation and tortuosity of blood vessels involving at least two quadrants of the posterior fundus with any stage of ROP.
  11. Whom to screen? By gestational age: < 30 weeks Birth weight: < 1500 g 1500 – 2000 g if unstable clinical course
  12. Laser ablation of avascular peripheral retina (Fig. 13.52) has largely replaced cryotherapy because visual and anatomical outcomes are superior. • Intravitreal anti-VEGF agents. Bevacizumab has been used for the treatment of ROP, but an optimal regimen is yet to be established. Zone I disease is more likely to respond than zone II. Allowing retinal development to proceed normally without the destruction integral to laser treatment is a potential advantage. However, systemic complications and long-term effects in this age group are undetermined. • Pars plana vitrectomy for tractional retinal detachment not involving the macula (stage 4A) can be performed successfully with respect to anatomical (90% success) and visual outcome. The visual outcome in stages 4B (e.g. 60%) and 5 (e.g. 20%) is typically disappointing even with successful anatomical reattachment
  13. STARGARDT,S MACULAR DYSTROPHY JUVENILE MACULAR DEGENERATION FUNDUS FLAVIMACULATUS
  14. Emixustat hydrochloride
  15. The OCT findings of patients with stargardts disease include decreased thickness of the retina, most notably in the foveolar. The OCT also reveals photoreceptor loss and extranuclear layer changes, as well as abnormalities in the RPE.
  16. Silent choroid, Central ovoid area of dystrophy is seen as hyperfluorescent because of the transmission defects. “Silent choroids” is due to the presence of abnormal Lipofuscin like material, which gets deposited in the RPE layer in these patients
  17. OCT: After adolescence, the cystic spaces may not be as evident because of flattening of cysts with increasing age. These cystic spaces occur predominantly in the nerve fiber layer although splitting can occur between other retinal layers as well. OCT can reveal areas of schisis that may not be visible on fundus examination. Full-field electroretinogram (ffERG): electronegative (reduced b-wave with preserved a-wave, "negative waveform"). This is not diagnostic as the differential for electronegative ERG includes several other retinal disorders, the a-wave may be reduced as the disease progresses, and some affected individuals can have a technically normal ERG. Genetic testing for mutations in the RS1 gene can confirm the diagnosis. Over 200 disease-causing mutations in the RS1 gene have been identified.
  18. FFA:Non leaking schitic spaces, OCT: schsis
  19. Amblyopia: Treat amblyopia, especially in cases of severe retinoschisis, hypermetropia, or following surgery for vitreous hemorrhage or retinal detachment. Genetic counseling: male patients should be counseled that they will pass the mutation to all daughters (who will most likely be asymptomatic heterozygote carriers), but will not pass the mutation to sons. Female carriers have a 50% chance of passing the mutation - all sons who inherit the mutation will be affected, and daughters who inherit the mutation will most likely be asymptomatic carriers. For those with low vision: Low vision aids (large-print textbooks), preferential seating in the front of the classroom, handouts with high contrast
  20. Familial exudative vitreoretinop­athy (FEVR) is an inherited vitreoretinal disorder charac­terized by incomplete or anomalous vascularization of the peripheral retina. The avascular peripheral retina leads to various degrees of retinal ischemia, which can cause neovascularization, vascular dragging, radial retinal folds, retinal exudates, vitreous hemorrhag­es, and tractional retinal detachments (RDs). About half of FEVR cases are associated with known genetic muta­tions, and the etiology is unknown in the remainder.
  21. Incomplete vascularization of periph­eral retina in FEVR is the result of developmental abnormalities. In normal development, vasculo­genesis begins when spindle-shaped mesenchymal precursor cells, migrating to the retina through the optic disc, dif­ferentiate into endothelial cells, which aggregate to form patent vessels that expand centrifugally. Next, angiogene­sis occurs when sprouts of blood vessels emanate from the preexisting vascular framework, increasing the vascular density of the immature plexus and extending it peripherally. This process is mediated by vascular endothelial growth factor (VEGF) expressed by astrocytes in response to localized retinal hypoxia, which highlights the importance of VEGF in ocular vascu­larization.5 X-linked FEVR are associ­ated with mutations in the NDP gene, which produces the norrin protein Most genes associated with FEVR affect pathways regulating the devel­opment of the secondary embryonic retinal vasculature via angiogenesis. Thus, the gene mutations in FEVR lead to incomplete or anomalous vascu­larization of the peripheral retina. In normal development, hyaloid vascu­lature forms and then regresses prior to retinal vascular development, but persistent hyaloid vasculature due to failure of regression is sometimes seen in FEVR.
  22. Vision loss may also occur as a result of abnormal leaking blood vessels (exudation), and a progressive shutdown of the finest blood vessels in the eye (capillary dropout) critical for the delivery of oxygen to the retinal cells.
  23. STAGE 1 STAGE 2 STAGE 4-5