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Appendix

145

Figure 3

Group C Retinoblastoma – Tumor with vitreous or subretinal seeding ≤ 3mm from the tumor

146

Appendix

Figures 4a, 4b, and 4c

Group D retinoblastoma – Presence of subretinal fluid alone > 6 mm from the tumor, or vitreous or subretinal seeding > 3 mm from tumor

Appendix

147

Figure 5

Group E retinoblastoma – Advanced intraocular retinoblastoma, with more than 2/3 of the globe filled with tumor

Figure 6a and 6b

Retinal astrocytomas in a 5 yo girl with neurofibromatosis type 1 (a) and in a 10 mo infant with tuberous sclerosis (b)

148

Appendix

Figure 7

Choroidal osteoma – Low line calcific choroidal lesion within the macula

Appendix

149

Figures 8a, 8b, and 8c

Coats disease a: Exudative retinal detachment with mustard colored subretinal fluid. b,c: Fluorescein angiograms highlight the telangiectatic vessels characteristic of Coats disease

150

Appendix

Figures 9a and 9b

Medulloepithelioma –Variably pigmented cilliary body mass. MRI highlights characteristic intralesional cysts

Appendix

151

Figure 10

Toxocara chorioretinitis – multiple subretinal foci of choroidal inflammation with associated exudates

152

Appendix

Figures 11a, 11b, 11c

Persistent Fetal Vasculature (previously known as Persistent Hyperplastic Primary Vitreous) Examination shows small eye with hypoplastic iris and retrolental membrane. Fluorescein angiogram and MRI highlight the fibrovascular stalk extending to the optic nerve

153

Subject Index

Aberrant splicing 50 Adjuvant chemotherapy 69–70 Argon green laser therapy 95

ASCR. See Autologous stem cell rescue Autologous stem cell rescue

(ASCR) 78–79, 111–112

B
Brachytherapy	97–98. See also
Episcleral plaque brachytherapy
Bragg peak 57

C
Cancer genetics	1–2

Capsulotomy. See YAG capsulotomy Carboplatin 81–82

–CCI 75

–human-derived fibrin protein sealant 76–77

–intravenous and subconjunctival administration 75

Carboplatin ototoxicity 124 Cataract surgery 129–131 CGH. See Comparative genomic

hybridization Chemotherapy

–adjuvant 69–70

–agents

– – carboplatin 71, 81–82

–– cisplatin 84–85

–– cyclophosphamide 83–84

–– doxorubicin 82–83

–– etoposide 82

–– thiotepa 85–86

–	–	topotecan	71, 85
–	–	vincristine	71, 81

–

extraocular retinoblastoma

–

multifocal calcifications and

–

– metastatic

78–79

necrosis

32, 34

–

– orbital and locoregional

77–78

–

necrotic growth pattern

32, 33

–

intraocular retinoblastoma

–

optic nerve invasion

33–34, 36

–

– bilateral

70–72

–

prognostic factors

–

– intravitreal and intrarterial

–

pseudorosettes

32, 34

delivery

–

trilateral retinoblastoma

–

– therapy-related leukemia

–

uveal invasion

34–36

–

– tumor formation

72–73

Coats disease

149

–

– unilateral

69–70

Comparative genomic hybridization

– ocular pharmacokinetics 68–69

(CGH)

43–44

– periocular administration

Coulomb-controlled iontophoresis

–

– carboplatin

75–77

(CCI) 75

–

– transscleral drug delivery

Cryotherapy

96–97

mechanisms

68, 73–75

Cyclophosphamide

83–84

– research and emergent therapies

–

– suicide gene therapy

80–81

–

– topotecan

–

– transgenic mouse models

79–80

Delayed diagnosis

Choroidal osteoma

148

– chemoreduction and focal

Cisplatin 84–85

therapy

137–138

Clinical and histopathologic

–

early detection programs

135

features

– human development index

–

clinical history

26–27

(HDI)

133

–

differential diagnosis

27–28

–

lack of awareness

135

– endophytic growth pattern

– lasers and brachytherapy

– examination under anesthe-

plaques

138

sia 28–29

–

poor health services

135

– exophytic growth pattern

31–32

– public awareness campaign

–

eyes, processing

37–39

136, 137

–

fine needle aspiration biopsy

–

resources

–

fleurettes 33, 35

–

– ORBIS cybersite e-consultation

–

Flexner-Wintersteiner rosettes

site

139

33, 35

–

– organizations and pro-

– grouping and staging

grams

139–140

– Homer Wright rosettes

33, 35

–

– twinning concept

138

–

initial clinical assessment

–

societal problems

135

–

initial presentation

25–26

–

strabismus and leukocoria

–

metastasis

134

– mixed endophytic and exophytic

Differential diagnosis

27–28

tumor growth

Doxorubicin

82–83

154	Subject Index

Epidemiology

Fine needle aspiration biopsy 30

In vitro fertilization (IVF)

– biologic underpinnings

15–16

FISH. See Fluorescence In Situ

Intensity-modulated radiation

–

factors

hybridization

therapy 56–57

–

gender differences

Flexner-Wintersteiner rosettes

International Agency for Research

–

population differences

33, 35

in Cancer (IARC)

12, 14

–

– global incidence data

Fluorescence In Situ hybridization

International Retinoblastoma Staging

–

– highest incidence regis-

(FISH)

44, 49

System (IRSS)

104

tries

12–13

Frameshift mutation

Intraocular pressure (IOP)

–

– IARC

Intraocular retinoblastoma

–

potential hypotheses

–

bilateral

70–72

–

– diagnostic interval

19–20

–

choroidal invasion

105

–

– diet

18–19

– emerging treatments

–

– in vitro fertilization (IVF)

Genetic counseling

–

focal therapies

–

– nonoccupational parental

– environmentmental factors

–

– argon green laser

exposures

–

– brachytherapy

97–98

–

– parental age 16–17

–

heritability 46–47

–

– cryotherapy

96–97

–

– parental occupations

–

molecular genetic testing

–

– diode laser

95–96

–

– screening and media

– RB1 test strategies

–

– external beam radiotherapy

campaigns

–

– aberrant splicing and epigenetic

92, 99

–

– UV exposure

17–18

mutation

–

– periocular chemotherapy 98

–

– viral agents

–

– missense mutation

–

– tumour responses

–

subpopulations

14–15

–

– molecular genetic tech-

–

histopathological risk factors

104

Epigenetic mutation

niques 49–50

–

intravitreal and intrarterial

Episcleral plaque brachyther-

–

– mosaicism

delivery

apy

58–59

–

– mutation identification

–

optic nerve invasion

105–106

Etoposide

49–50

– primary treatments

Ewing’s sarcoma

119

–

– nonsense and frameshift

–

– enucleation

91–92

External beam radiotherapy 92, 99

mutation

–

– external beam radiotherapy

Extraocular and metastatic

–

– parent of origin effect

–

– medial rectus muscle

91–92, 94

retinoblastoma treatment

–

– penetrance mutation

–

– Reese–Ellsworth and

–

high risk intraocular disease

–

– prenatal testing

International Classification

–

– choroidal invasion

105

–

– sporadic bilateral or famil-

Groups

–

– histopathological risk

ial 48–49

–

therapy-related leukemia

factors 104

–

– sporadic unilateral

–

tumor formation

72–73

–

– optic nerve invasion

105–106

–

– translocations and gross

–

unilateral

69–70

–

metastatic disease

deletions

50–51

IRSS. See International

–

– high-dose chemotherapy

Germline RB1 mutation

Retinoblastoma Staging System

and ASCR

78–79

48, 72

–

– with CNS

112

Gross deletions

50–51

–

– without CNS

111–112

Group A retinoblastoma

143

– microscopic residual disease

Group B retinoblastoma

144

–

– artifactual scleral invasion

106

Group C retinoblastoma

145

Leiomyosarcoma

119

–

– multivariate analysis

108

Group D retinoblastoma

146

–

– optic nerve stump

106

Group E retinoblastoma

147

–

– therapies

107

–

– trans-scleral invasion

107–108

–

orbital and locoregional dis-

MDM2 and MDMX genes 3–4

ease

77–78

Medulloepithelioma

150

–

– chemotherapy

109

Hematogenous metastasis

105

Metastatic disease

–

– dissemination

108

Homer Wright rosettes

– high-dose chemotherapy

–

– examination

109

33, 35

with ASCR 78–79

–

– orbital relapse

109–110

Human-derived fibrin protein

– with CNS

112

– signs and symptoms

103

sealant

76–77

– without CNS

111–112

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