Table.

Chromosome Assignments of Genes Causing Retinal Degeneration

or Stationary Night Blindness

As of October, 2001, there are about 108 genes on this list;

1p32 palmitoyl protein thioesterase (CLN1)

infantile neuronal ceroid-lipofuscinosis1

1p32-p34 unidentified gene

muscle-eye-brain disease with retinal degeneration and super-normal visual evoked responses2

1p31 RPE65

recessive retinitis pigmentosa3,4

congenital amaurosis4,5

1p13 ABCR (ATP-binding cassette transporter of the retina)

Stargardt juvenile macular degeneration6,7

cone-rod degeneration8,9

1cen-q21 unidentified gene (RP18)

dominant retinitis pigmentosa10,11

1q12-q24 unidentified gene (CORD8)

recessive cone-rod dystrophy12

1q25-q31 unidentified gene (ARMD1)

age-related macular degeneration, dry type13

1q31-32.1 CRB1 (homologue of Drosophila crumbs; RP12)14

recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment

epithelium15-18

Leber congenital amaurosis19

1q31-32 unidentified gene (AXPC1)

recessive posterior column ataxia and retinitis pigmentosa20

1q41 usherin (USH2A)

Usher syndrome type II21

1q44 unidentified gene implicated in single patient with a translocation breakpoint

cone dystrophy22

1p36.3 or 1q23 unidentified gene based on one family with an inversion of chromosome 1

Bardet Biedl syndrome23

2p23 long chain 3-hydroxy-acyl-coA dehydrogenase, alpha subunit (HADHA)

macular pigment deposits, scattered 'salt and pepper' pigment in the retina, reduced visual acuity24-26

2p16 EFEMP1 (EGF-containing fibrillin-like extracellular matrix protein-1

dominant macular degeneration (Doyne honeycomb dystrophy)27,28   dominant radial drusen (malattia leventinese)28,29

2p15-p11 unidentified gene (RP28)

recessive retinitis pigmentosa30

2p14-13 unidentified gene

Alstrom syndrome31

2q11 a subunit of the cone cGMP-gated cation channel

recessive rod monochromacy32

2q14.1 MERTK (RCS rat homologue)33

recessive retinitis pigmentosa

2q31 unidentified gene (BBS5)

Bardet-Biedl syndrome34

2q31-33 unidentified gene

recessive retinitis pigmentosa35

2q24-37 arrestin

Oguchi disease (stationary night blindness)36-38

recessive retinitis pigmentosa37-39

3p23-24 unidentified gene

Usher syndrome type II40

3p21 rod a transducin

dominant stationary nightblindness (Nougaret form)41

3p21.1-12 ataxin-7 (SCA7)

dominant cerebellar ataxia type 2 with pigmentary macular dystrophy42

3p12 unidentified gene (BBS3)

Bardet-Biedl syndrome43-45

3q21-q24 rhodopsin

dominant retinitis pigmentosa46-49

recessive retinitis pigmentosa50,51

dominant stationary nightblindness52-54

3q21-25 USH3 55

Usher syndrome type III56

3q21-24 ceruloplasmin

syndromic retinal degeneration57

3q28-29 dynamin-related GTPase (OPA1)58,59

dominant optic atrophy (Kjer type)60-62

 

4p unidentified gene63

Stargardt-like dominant macular degeneration

4p16 prominin-like 1 (PROML1)

recessive retinitis pigmentosa64

4p16.3 b subunit of rod cGMP-phosphodiesterase

recessive retinitis pigmentosa65

dominant stationary nightblindness66

4p14-q13 a subunit of rod cGMP-gated channel  recessive retinitis pigmentosa67

4q22-q24 microsomal triglyceride-transfer-protein

abetalipoproteinemia (Bassen-Kornzweig syndrome)68

4q31 lecithin retinol acyltransferase (LRAT)

recessive retinitis pigmentosa69

4q32-q34 recessive retinitis pigmentosa (RP29)70

4q35-qter unidentified gene71

Bietti crystallin corneoretinal dystrophy

5q13-q14 unidentified gene72,73

Wagner syndrome72,74, erosive vitreoretinopathy72, developmental

vitreoretinopathy with multiple ocular abnormalities73

5q31.2-q34 a subunit of rod cGMP-phosphodiesterase

recessive retinitis pigmentosa75

6p21.1 guanylate cyclase activator 1A (GCAP1, or GUCA1A)

dominant cone dystrophy76-78

6p21 tubby-like protein-1 (TULP1)

recessive retinitis pigmentosa79-82

6p21.1-cen RDS or peripherin/RDS

dominant retinitis pigmentosa83-85

dominant macular dystrophy85

dominant retinitis punctata albescens86

digenic retinitis pigmentosa87

6cen-q14 unidentified gene (RP25)

recessive retinitis pigmentosa88

6q11-15 ELOVL4 (possibly involved in the synthesis of very long chain fatty acids)89

Stargardt-like dominant macular dystrophy90,91

6q13-15 unidentified gene (CORD7)

dominant cone-rod dystrophy (unlikely to be allelic to dominant Stargardt-like dystrophy)91

6q13-15 unidentified gene

congenital retinal blindness92

6q14-q16.2 unidentified gene (MCDR1/PBCRA)

North Carolina dominant macular dystrophy93

dominant progressive bifocal chorioretinal atrophy94

7p21-15 unidentified gene

dominant cystoid macular dystrophy95-97

7p21-15 unidentified gene

dominant retinitis pigmentosa with variable expressivity95,98,99

7q21-22 PEX1

infantile Refsum disease100

7q31-32 unidentified gene

dominant retinitis pigmentosa101-104 

8p11 unidentified gene (CORD9)

recessive cone-rod dystrophy105

8q11-21 RP1 (oxygen-response protein-1)

dominant retinitis pigmentosa106-109

8q13.1-13.3 a-tocopherol-transfer protein

retinitis pigmentosa and Friedrich-like ataxia110,111

8q21-22 b subunit of the cone cGMP-gated cation channel (CNGB3)112,113

recessive rod monochromacy114,115

8q22-23 unidentified gene (COH1)

Cohen syndrome: retinal degeneration, non-progressive mental retardation, short stature, microcephaly, peculiar facies, slender hands and feet, floppiness, delayed puberty 116-119

9q13 frataxin

Friedreich ataxia (optic atrophy is a feature)120

 

10pter-p11.2 phytanoyl-CoA alpha-hydroxylase

Refsum disease121,122

10q11-21 unknown gene

recessive persistent hyperplastic primary vitreous

10q21-22 CDH23 (USH1D and DFNB12)123,124

Usher syndrome type I125 and nonsyndromic deafness

10q21-22 PCDH15 (USH1F) (protocadherin)126

Usher syndrome type I

10q23 RGR127

recessive and dominant retinitis pigmentosa128

10q24 retinol binding protein (RPB4)

retinitis pigmentosa and iris colobomas129

10q26 ornithine aminotransferase

gyrate atrophy130-132

11p15 CLN2 (a lysosomal protein)

classical late-infantile neuronal ceroid lipofuscinosis133

11p15 unidentified gene

helicoid peripapillary chorioretinal degeneration134,135

11p15 harmonin (USH1C)136,137

Usher type I138-141

11q12-13 bestrophin (VMD2)142,143

Best vitelliform macular dystrophy

11q13 ROM1

digenic retinitis pigmentosa87

11q13 unidentified gene (BBS1)

Bardet-Biedl syndrome44,144 11q13.5 myosin VIIa (USH1B)

Usher type I145

 

12q13-14 11-cis retinol dehydrogenase (RDH5)

fundus albipunctatus146

12q24.1 ataxin-2

Spinocerebellar atrophy (SCA2); one case reported with a very long CAG repeat

and associated "pigmentary retinopathy" and optic atrophy by 10 months147

13q22 CLN5

late infantile neuronal ceroid lipofuscinosis148

13q34 unidentified gene

dominant Stargardt macular dystrophy149

13q34 rhodopsin kinase

Oguchi disease150,151

14q11 NRL (transcription factor)

dominant retinitis pigmentosa152

14q11 RPGRIP1

congenital retinal blindness153

14q24 unidentified gene

congenital retinal blindness154

14q32 unidentified gene (USH1A)

Usher type I155

15q11.2-q12 unidentified gene or chromosome rearrangement

Prader-Willi syndrome with cone-rod degeneration156

15q21-23 unidentified gene

variant late infantile neuronal ceroid lipofuscinosis157

15q22 BBS4 (homologue of O-linked N-acetylglucosamine transferase) 158

Bardet-Biedl syndrome159

15q23 NR2E3 (transcription factor)

recessive enhanced S-cone hypersensitivity160,161

15q24 unidentified gene

tapetoretinal degeneration, mental retardation, and spasticity162

15q26 cellular retinaldehyde binding protein

recessive retinitis punctata albescens163

16p12.3-12.1 unidentified gene

recessive retinitis pigmentosa164

16p12.1 CLN3 (a lysosomal protein)165

juvenile neuronal ceroid lipofuscinosis (Batten or Spielmeyer-Vogt disease)166,167

16p13 phosphomannomutase-2  carbohydrate-deficient glycoprotein type I syndrome168,169

16q21 unidentified gene (BBS2)

Bardet-Biedl44,170

17p unidentified gene

dominant central areolar choroidal dystrophy (same chromosomal region as

guanylate cyclase)171

17p13-12 unidentified gene

dominant progressive cone dystrophy172-174

17p13.3 pre-mRNA splicing factor PRPC8 (RP13)

dominant retinitis pigmentosa175-178

17p13.1 guanylate cyclase

congenital retinal blindness179

dominant cone-rod dystrophy180,181

17p13 unidentified gene (no mutation found in RETGC-1 coding guanylate cyclase)

congenital retinal blindness182

17p13.1 AIPL1 (aryl-hydrocarbon interacting protein-1)

congenital retinal blindness183

17q22 unidentified gene (RP17)

dominant retinitis pigmentosa184-187

17q25 fascin (FSCN2)

dominant retinitis pigmentosa188

18q12.2-12.3 unidentified gene

dominant optic atrophy (Kjer type)189

18q21.1 unidentified gene

cone-rod dystrophy (one case with deletion)190

19q13.1-13.2 transcription factor crx

dominant cone-rod dystrophy191,192

congenital retinal blindness193-195

19q13.4 PRP31 (RP11) homologue of yeast pre-mRNA splicing protein

dominant retinitis pigmentosa with reduced penetrance196-199

20p12 MKKS

Bardet-Biedl syndrome200,201

20p21 Jagged1202,203

Alagille syndrome (arteriohepatic dysplasia with retinal degeneration in some cases possibly due to poor absorption of fat-soluble vitamins) 204-207; many cases do not have retinal degeneration 208 possibly treatable with systemic supplements of vitamins A and E.

21q21 unidentified gene (USH1E)

Usher type I209

 22qter-q13 tissue inhibitor of metalloproteinase-3

Sorsby fundus dystrophy210

Xpter-p22.33 unidentified gene

macular degeneration, congenital ataxia, late-onset progressive myoclonic

encephalopathy211

Xp22.3-22.1 XLRS1

retinoschisis212

Xp21.1 RPGR (RP3; RP15 turns out to be the same gene213)

retinitis pigmentosa214-216

possibly stationary nightblindness217,218

Xp11.4 nyctalopin219,220

complete stationary night blindness (CSNB1)221,222

Xp11.4-11.23 unidentified gene

retinitis pigmentosa and mental handicap223

Xp11.4 unidentified gene

cone-rod dystrophy224,225

Xp11.3 RP2

X-linked retinitis pigmentosa226,227

Xp11.23 L-type calcium channel

incomplete stationary nightblindness (CSNB2)222,228,229

possibly allelic with Åland Island eye disease222

Xp21 dystrophin

abnormal rod ERG230,231

Xq21 component A of Rab geranylgeranyl transferase (a Rab escort protein)

choroideremia232-234

Xq26-27 unidentified gene (RP24)

X-linked retinitis pigmentosa235

Xq27 unidentified gene (perhaps the same as RP24)

X-linked progressive cone dystrophy236

Xq28 red/green cone opsin

X-linked cone degeneration237

Y unidentified gene (possibly present)

single family with apparent Y-linked retinitis pigmentosa238

Mitochondrial genome

deletion

Kearns-Sayre syndrome239-241

mitochondrial serine tRNA (MTTS2)

dominant retinitis pigmentosa, progressive hearing impairment, and subclinical myopathy;242 (previously reported to be linked to 9q34-qter)243

 

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