13. Index

ABCA4 (ATP-binding cassette, subfamily A, member 4)

88–9, 99–101, 110, 134

ABCC6 (ATP-binding cassette, subfamily C, member 6)

89, 94

N-acetylgalactosamine-4-sulfatase (ARSB) 236

achalasia–addisonianism–alacrima (AAAS) syndrome

268–9

achromatopsia

82–3

aculeiform cataract

32–3

adaptin beta-3a (AP3B1)

209–10

adenomatous polyposis of colon

244–6

adnexal developmental defects

267–77

age-related macular degeneration (ARMD)

88–9

AIPL1 (arylhydrocarbon-interacting receptor protein-like 1)

115, 118

alacrima

268–9

albinism (OCA)

202–6, 211–2

Allgrove syndrome

268–9

alpha subunit of rod transducin (GNAT1)

142

Alström syndrome

147–8

amyloidosis

Finnish-type/Meretoja-type 20–2

lattice corneal dystrophy, type I

18–9

primary subepithelial

7

amyloidosis V

20–2

Anderson–Fabry disease

215–6

aniridia

65–7

anophthalmos

274–5

anterior polar cataract 34

anterior segment ocular (mesenchymal) dysgenesis (ASOD)

68–9

AP3B1 (adaptin beta-3a)

209

APC (adenomatous polyposis of colon)

244–6

aquaporin O (AQPO)

41

arachnodactyly

53

ARMD (age-related macular degeneration)

88

arrestin (SAG S-antigen)

134

ARSB (N-acetylgalactosamine-4-sulfatase)

236

arthro-ophthalmopathy, progressive

180–4

arylhydrocarbon-interacting receptor protein-like 1 (AIPL1)

118

ATP-binding cassette, subfamily A, member 4 (ABCA4)

88–9, 99–100, 134

ATP-binding cassette, subfamily C, member 6 (ABCC6)

89, 94

Avellino-type corneal dystrophy

14–7

Axenfeld anomalies

68, 72, 77

Bardet–Biedl syndrome

149–52

basal cell nevus syndrome

247–50

Batten disease

231–3

BBS2, BBS4

151–2

Best macular dystrophy

104–6

beta-Ig-H3/transforming growth factor (BIGH/TGFB1)

10–9

bicoid-related homeobox-containing gene

78

BIGH3-related dystrophies 4 10–9

342

Genetics for Ophthalmologists

Blaschko’s lines

173

blepharophimosis, ptosis and epicanthus inversus

270–1

Bloch–Sulzberger syndrome

172–4

blue cone monochromatic color blindness

84–5

Bowman’s layer dystrophy

type I

10–1

type II

12–3

buphthalmos

58–60

cadherin-like gene CDH23

166

calcium channel alpha-1 subunit (CACNA1F)

142

carbohydrate sulfotransferase-6 (CHST6)

24

cataract

28–44

aculeiform

32–3

autosomal dominant (ADCC)

29

autosomal recessive (ARCC) 30

cerulean (blue-dot)

36–7

congenital zonular with sutural opacities

38

Coppock-like

39–40

embryonic nuclear

39–40

hyperferritinemia–cataract syndrome

45

Lowe (oculocerebrorenal) syndrome

46–8

myotonic dystrophy

49–51

polymorphic and lamellar 41

posterior polar

42

syndromic

45–51

X-linked

with Hutchinsonian teeth

35

Lowe syndrome

46–8

zonular pulverulent

43–4

cataract–dental syndrome

35

CBBM (blue cone monochromatic color blindness)

84–5

CEH10 homeodomain-containing homolog (CHX10)

276

cellular retinaldehyde-binding protein 1 (CRBP1)

120

central areolar choroidal dystrophy (CACD)

127–9

cerebellar vermis agenesis

158

cerebelloparenchymal disorder IV (CPDIV)

158

ceroid lipofuscinosis type-3

231–3

CFEOM (congenital fibrosis of extraocular muscles)

272–3

Chediak–Higashi syndrome

207–8

choroid, and retina, gyrate atrophy

226–7

choroidal dystrophy, central areolar

127–9

choroidal sclerosis (choroideremia)

107–9

choroiditis, Doyne honeycomb retinal dystrophy

90–1

CHRPEs, retinal pigment epithelium

244

CHX10 (CEH10 homeodomain-containing homolog)

276

CLN3 (ceroid lipofuscinosis type-3)

231–3

CNGA1

134

Index

343

Cockayne syndrome

153–5

COD(3) 86–7

Cohen syndrome

156–7

collagens

type II,alpha1 (COL2A1)

183

type VIII,alpha2 (COL8A2)

26

type XI,alpha1 (COL11A1)

183

type XVIII,alpha1 (COL18A1)

175

coloboma with renal disease (ONCR)

194–5

color blindness, blue cone monochromatic

84–5

cone dystrophies

82–7

cone–rod dystrophy

110–1

cone–rod homeobox (CRX)

119

connexins (CX) 43–4

Coppock-like cataract

39–40

CORD1–9

110

CORD3 (Stargardt disease)

98–101

cornea plana

5–6

corneal amyloidosis, primary subepithelial

7

corneal dystrophies

3–26

CDBI

10–1

CDBII

12–3

chromosomal localization 4

Fuchs’ endothelial

25–6

Granular

14–7

Groenouw type I

14–7

Groenouw type II

23–4

honeycomb

12–3

inheritance pattern 4

lattice

18–22

corneal shape abnormalities

2–6

CRD (cone-rod dystrophy)

110–1

CREB-binding protein (CREBPP)

79–80

Criswick–Schepens syndrome

170–1

crumbs homolog 1 (CRB1)

134, 135

CRX 126

crystallins (CRY)

29, 30

alphaA (CRYAA) 276

alphaB (CRYAB) 42

betaA1 (CRYBA1) 36

betaB2 (CRYBB2)

36, 39, 276

gamma (CRYG) 40

gammaD (CRYGD) 32

CSNB1–3

141

cyclic nucleotide-gated cation channel

alpha subunit (CNGA3)

82

beta subunit (CNGB3)

82

cystathionine beta-synthase (CBS)

228–30

344

Genetics for Ophthalmologists

crumbs 1 (CRB1)

134, 135

patched (PTCH)

250

elongation of VLC fatty acids-like gene 4 (ELOVL4)

89, 103

embryonic nuclear cataract

39–40

endothelial

25–6

enhanced S–cone syndrome

112–3

epicanthus inversus 270–1

ERCC6, ERCC8

154

exudative vitreoretinopathy

EVR1

170–1

X-linked (EVR2)

177–9

Fabry disease

215–6

familial adenomatous polyposis (FAP) 244–6

familial iridogoniodysplasia

72–3

FECD (Fuchs’ endothelial corneal dystrophy) 25–6

ferritin light chain (FLC)

45

fibrillin 1 (FBN1) 55

fibrillin-like extracellular matrix protein-1 (EFEMP1)

89, 91

fifth phakomatosis

247–50

Finnish-type amyloidosis

20–2

forkhead box C1 (FOXC1)

72

forkhead box E3 (FOXE3)

68

forkhead transcription factor (FOXL2)

271

Franceschetti sign

114

Fuchs’ endothelial corneal dystrophy

25–6

fundus albipunctatus

144–5

fundus flavimaculatus

98–101, 102–3

galactosemia

219–21

cataract

47

Index

345

galactokinase deficiency

217–8

galactosidase alpha (GLA)

216

galactosidase beta (GLB1)

236

GALNS (galactosamine-6-sulfate sulfatase)

236

Gardner syndrome 244–6

gelatinous drop-like corneal dystrophy

7

gelsolin 21

geographic granular dystrophy

10–1

glaucoma

57–80

primary 58–64

congenital glaucoma

58–60

juvenile open angle

61–2

open angle glaucoma

63–4

secondary

65–80

glaucoma-related pigment dispersion syndrome

70–1

GM2 gangliosidosis

type I

222–5

type II

222–5

GNAT1 (alpha subunit of rod transducin) 142

Goldmann–Favre syndrome

112

Gorlin–Golz syndrome 247–50

granular corneal dystrophy

14–7

granular dystrophy, geographic

10–1

green cone pigment, including deuteranopia

84

Groenouw corneal dystrophy

type I

14–7

type II

23–4

Grönblad–Strandberg syndrome

92–5

GTPases, Rab escort proteins

108

guanylate cyclase

2D (GUCY2D) 116

activator 1A (GUCAA1A)

7

gyrate atrophy of choroid and retina 226–7

harmonin

165

heparan sulfate proteoglycans

76

Hermansky–Pudlak syndrome

209–10

hexosaminidase A/B deficiency, HEXA, HEXB

222–5

von Hippel–Lindau syndrome

264–5

homeobox gene expressed in ES cells (HESX1)

197

homocystinuria

228–30

honeycomb corneal dystrophy

12–3

honeycomb degeneration of retina

90–1

HPS 209–10

Hunter syndrome

234–6

Hurler syndrome

234–6

Hutchinsonian teeth, X-linked cataract

35

hyperferritinemia–cataract syndrome

45

346

Genetics for Ophthalmologists

IDS (iduronate sulfatase)

236

IDUA (alpha-L-iduronidase)

236

incontinentia pigmenti type II (IP2)

172–4

infantile nephropathic cystinosis

237–8

inherited retinal disease

81–167

iridogoniodysgenesis

72–3, 77–8

anomaly (IGDA)

72–3

with somatic anomalies

77–8

type I

72–3

type II

77–8

iris hypoplasia 77–8

isolated ectopia lentis

52–6

isolated microphthalmos

274–5

Joubert–Bolthauser syndrome

158

juvenile familial corneal dystrophy

8–9

keratan sulfate proteoglycans (KSPGs)

6

keratocan (KERA 5)

276

Kjer-type optic atrophy 188–9

Knobloch syndrome

175–6

Krukenberg spindles

70

lattice corneal dystrophy

type I

18–9

type II

20–2

Leber congenital amaurosis (LCA)

114–9

Leber hereditary optic atrophy/neuropathy 190–3

lens, anatomy

29

lens disorders 27–56

lens subluxation

53–6

homocystinuria

228–30

Lester sign

75

LIM homeobox transcription factor 1beta (LMX1B)

74

LIM2

30

Lowe (oculocerebrorenal) syndrome

46–8

LRAT

134

lysosomal trafficking regulator (LYST)

207

McKusick–Kaufman syndrome 152

macular corneal dystrophy 23–4

macular dystrophies

88–106

macular pattern dystrophy, deafness and diabetes

161

Index

347

MAF 2, 276

major intrinsic protein of lens fiber membrane (MIP) 41

Malattia Leventinese (MLVT)

90–1

malignancy (increased risk)

241–65

Knudson’s two-hit hypothesis

242

Marfan syndrome

52–6

Maroteux–Lamy syndrome 234–6

MASS phenotype

56

MCDC (macular corneal dystrophy

23–4

Meesmann corneal dystrophy

8–9

Meretoja-type amyloidosis

20–2

merlin

255

MERTK

134

mesenchymal dysgenesis, anterior segment 68–9

metabolic disorders

213–40

MFS1 (Marfan syndrome)

52–6

microphthalmos, isolated

274–5

mitochondrial disease and retinopathy

159–62

mitochondrial genes, LHON

190–3

MKKS (McKusick–Kaufman syndrome)

152

Morquio syndrome

234–6

de Morsier syndrome

196–8

mucopolysaccharidoses

234–6

multidrug resistance protein 6 (MRP6)

94

myocilin (MYOC) 62–4

myosin VIIa 165

myotonic dystrophy

49–51

nail dystrophy

174

nail–patella syndrome

74–6

Nance–Horan sydrome (NHS) 35

nanophthalmos

274–5

NDP (Norrie disease) 177–9

nephropathic cystinosis 237–8

Nettleship–Falls type ocular albinism

211–2

neurofibromatosis

type I

251–3

type II

254–6

neurofibromin (NF1) 253

neuronal ceroid lipofuscinosis, juvenile type-3

231–3

neuropathy, ataxia and retinitis pigmentosa 162

nevoid basal cell carcinoma syndrome (NBCCS)

247–50

NFκB essential modulator (NEMO)

174

night blindness

141–4

Norrie disease

177–9

NRL 126

348

Genetics for Ophthalmologists

OA1, X-linked albinism

211–2

OAT (ornithine aminotransferase) 226–7

occipital encephalocoele

175–6

OCRL (oculocerebrorenal syndrome)

46–8

ocular albinism, type-1

211–2

ocular/adnexal developmental defects

267–7

oculocerebrorenal syndrome

46–8

oculocutaneous albinism

202–6

Oguchi disease

145–6

onychoosteodysplasia 74–6

OPA1 (optic atrophy type 1)

188–9

open-angle glaucoma type 1a (GLCIA)

61–2

optic atrophy

187–200

DIDMOAD 199–200

paired box gene 2 (PAX2)

192

paired box gene 6 (PAX6)

66

pigmentation defects

201–12

red and green cone pigment

84

pink-eye (P) gene 205

polymorphic and lamellar cataract

41

posterior polar cataract

42

posterior polymorphous dystrophy (PPCD)

25–6

primary subepithelial corneal amyloidosis

7

progressive arthro-ophthalmopathy

180–4

progressive cone dystrophy 86–7, 127

progressive rod–cone dystrophies

122–40

PROML1

134

PRPC8

126

pseudoxanthoma elasticum (PXE)

92–5

ptosis and epicanthus inversus 270–1

Index

349

Rathke pouch homeobox (RPX)

197

RB1 (retinoblastoma) 257–60

RBP4

134

RDH5 (retinol dehydrogenase 5)

143

RDS/peripherin (RDS) 87, 89, 126, 129

von Recklinghausen disease

251–3

red cone pigment, including protanopia 84

Refsum disease

239–40

Reis–Buckler’s corneal dystrophy

10–1

renal–coloboma syndrome

194–5

RetGC1

116

retina, and choroid, gyrate atrophy 226–7

retinal degeneration slow (RDS)

87, 89, 126, 129

retinal detachment

175–6

retinal dystrophies

81–167

cone 82–7

macular

88–106

miscellaneous

107–21

mitochondrial diseases

159–62

progressive rod–cone

122–40

stationary night blindness

141–4

syndromic

147–67

retinitis pigmentosa 122–40

autosomal dominant

125–6

genes

125–6

autosomal recessive

132–6

genes

134

digenic

137

peripherin/RDS

127–9

PPRPE type

135–6

rhodopsin-related

130–1

stationary night blindness

141–6

type-12 (RP12)

135–6

X-linked

138–40

genes

139

retinitis punctata albescens

120–1, 127

retinoblastoma 257–60

retinol dehydrogenase 5 (RDH5)

143

retinoschisis, X-linked

185–6

RGR 134

RHO (rhodopsin-related RP) 130–1, 142

RHOK (rhodopsin kinase)

146

Rieger anomalies

68, 72

350

Genetics for Ophthalmologists

Rieger syndrome

72, 77–8

RLBP1

134

rod, see also cone–rod

rod monochromatism

82–3

rod outer segment protein 1 (ROM1)

137

rod transducin, alpha subunit (GNAT1)

142

ROM/RDS 126, 137

RP1

126

RP2

139

RPA (retinitis punctata albescens) 120–1

RPE65 (retinal pigment epithelium-specific protein)

117–8, 134

RPGR

139

RPGRIP1 (RPGR-interacting protein)

118

RPX (Rathke pouch homeobox)

197

RSI X-linked retinoschisis

185–6

Rubinstein–Taybi syndrome

79–80

SAG (S-antigen)

134

Sandhoff disease (hexosaminidase B deficiency)

222–5

SCH (schwannomin)

255

Scheie syndrome

234–6

septo–optic dysplasia

196–8

SFD (Sorsby pseudoinflammatory fundus dystrophy)

96–7

SIX5

51

small leucine-rich proteoglycans (SLRPs)

6

Sorsby pseudoinflammatory fundus dystrophy

96–7

Stargardt disease

98–103

autosomal dominant

102–3

autosomal recessive

98–101

stationary night blindness

141–6

Stickler syndrome

180–4

stromal

21–4

subretinal neovascular membranes (SRNVMs)

94

Tay–Sachs disease (hexosaminidase A deficiency) 222–5

Thiel–Behnke corneal dystrophy

12–3

tissue inhibitor of metalloproteinase 3 (TIMP3)

89, 97

Index

351

von Hippel–Lindau syndrome

264–5

von Recklinghausen disease

251–3

VSX1 2, 4, 25

WFS1 (wolframin)

199–200

Wolfram syndrome

199–200

X-linked disorders

anophthalmos

274–5

cataract with Hutchinsonian teeth

35

familial exudative vitreoretinopathy (EVR2) 177–9

Hunter syndrome

234–6

ocular albinism

211–2

retinitis pigmentosa 138–40

retinoschisis

185–6

zonular cataract, with sutural opacities

38

zonular pulverulent cataract 43–4

352

Genetics for Ophthalmologists