Retina International's Scientific Newsletter

Disease Database

Recent update from:30.05.07

Genes and loci reported throughout the years -
listed for a single year

Loci

Genes and loci reported throughout the years -
compiled listing

Compiled

Chromosome	Albinism	Bardet Biedl Syndrome	Colour Vision Defects	Cone + Cone Rod Dystrophies	Congenital Stationary Night Blindness	Incontinentia Pigmenti	Leber`s Congenital Amaurosis and other Early Onset Severe Retinal Dystrophies	Miscellaneous
Last update	26.02.04	09.05.07	10.03.04	28.11.06	28.11.06	11.03.04	09.05.07	10.03.04
1	CHS1, q42.1-2, CHS1		ACHM4, p13, GNAT2	CRD, p21-13, ABCR CRD, q12-24 CORD8, q12-24			LCA9, p36 LCA2, q31, RPE65 LCA6, q31-32.1, CRB1 LCA11, q32, RD3
2		BBS5, q31	ACHM2, p11-q12, CNGA3		Oguchi, q37, SAG
3	HPS3, q24, HPS3	BBS3, p13-12, ARL6			CSNB Nougaret type, p22, GNAT1 CSNB RHO-type, q21-24, RHO
4		BBS7, q27, BBS2L1 BBS12, q27, FLJ35630			CSNB3, p16.3, PDE6B		LCA8, q31.2, LRAT	ABL, q22-24, MTP
5	OCA4, p13, MATP HPS2, q13, ADTB3				adCSNB, q35, GRM6
6	HPS7, p22.3 DTNBP1 OAR, q13-15			CRD, p21.1, GUCA1A COD/CORD, p21.1-12.2 CORD7, q13-15, RIM1 RCD1, q25-26			LCA5, q11-16 , Lebercillin	STL4, q13 , COL9A1
7		BBS9, p14.3, PTHB1	Tritanopia, q31.3-32, BCP
8			ACHM3, q21.1-22.1, CNGB3	CORD9, p11-q11,
9	OCA3, p23, TRP1	BBS11, q31.1, TRIM32 MORM, q34		COD, q24 , KCNV2		Hypomelanosis of Ito, q33-ter
10	HPS1, q23, ep HPS6, q24-32, ru, HPS6							GA, q26, OAT
11	HPS5, p15-13, ru, HPS5 OCA1, q14.3, Tyr	BBS1, q13, BBS2L2			CSNB2B, q13.1, CABP4
12		BBS10, q, FLJ23560/C12orf58		CRD, p13.33, CACNA2D4			LCA10, q21-22, CEP290
13					Oguchi disease, q34, RHOK
14		BBS8, q32.11, TTC8	ACHM1,	CRD, q11, RPGRIP			LCA7, q11, RPGRIP COSRD, q23.3, RDH12 LCA3, q24
15	OA3, q11.2-12, P-gene OCA2, q11.2-12, P-gene GS, q21, RAB27A	BBS4, q22.3-23, BBS4				Hypomelanosis of Ito, q11-13
16	OCA5, q24.3, MC1R	BBS2, q13, BBS2
17				ADCD, p13 CORD5, p13-12, PITPNM3 CORD6, p13-12, RetGC1 CRD, q adCRD, q11.2, AIPL1 CRD, q11.2, HRG4			LCA1, p13, RetGC1 LCA4, p13.1, AIPL1
18				CORD1, q21.1-21.3
19				CORD2, q13.3, CRX			LCA, q13.3, CRX
20		BBS6, p12, MKKS
21
22	HPS4, q11.2-12.2, le, HPS4
X	OA1, p22.3-22.2, OA1 ADFN, q26.3-27.1		Deuteranopia, q28, GCP,RCP Protanopia, q28, GCP,RCP BCM, q28, GCP,RCP	CORD3/RP15, p22.13-22.11 COD1, p11.4 COD, p11.4 - q13.1 XLPCD2, q27 COD2, q28	AIED, OA2, p21.1-11.22 CSNB1, p11.3, NYX CSNB2, p11.23, CACNA1F	Hypomelanosis of Ito, p11 IP1, p11.2, IP2, q28,		CHM, q21.2, REP1
mt
Remarks		Triallelic Inheritance
Summary	18 Loci 15 Genes id.	12 Loci 13 Genes id.	8 Loci 7 Genes id.	22 Loci 11 Genes id.	8 Loci 7 Genes id.	5 Loci 0 Genes id.	14 Loci 12 Genes id.	3 Loci 3 Genes id.
Chromosome	Neuronal Ceroid Lipofuscinosis	Optic Atrophy	Retinal and Macular Dystrophies	Retinitis Pigmentosa	Syndromes	Usher Syndrome	Vitreoretinopathies
Last update	26.02.04	08.02.01	30.11.06	20.03.07	30.11.06	07.03.04	07.03.04
1	CLN1 INCL GROD, p32, PPT CLN4, p32, PPT		AMD, p22-21, ABCR FFM, p21-13, ABCR STGD1, p22-21, ABCR Rod/Cone Dystrophy, pseudo dominant, p21-13 AMD,q32, CFH	RP32, p21.2-13.3 RP19, p21-13, ABCR RP18, q13-21, HPRP3 ADRP, q22, SEMA4A RP20, q31, RPE65 RP12, q31-32.1, CRB1 RPCLD, q31-32.1, CRB1	SLSN4, p36, NPHP4 STL2, p21.1, COL1A1 AXPC1, q31-32,	USH2A, q41, USH2A
2			MLVT, p21-16, EFEMP1 DHRD, p16, EFEMP1	RP28, p15-11 RP33, q11.2 ARRP, q14, MERTK RP26, q31.2-32.3, CERKL ARRP, q37, SAG	ALMS, p13, ALMS1 SLSN1, 13, NPHP1 JBTS4, 13, NPHP1
3		OPA1, q28, OPA1	RPA, q21-24, RHO	ARRP, q21-24, RHO RP4, q21-24, RHO	ADCAII, SCA7, p21.1-12, SCA7 HERNS, CRV, HRV, q21.3-21.1, SLSN3, q22, NPHP3	USH2B, p24.2-23 USH3, q21-25, Clarin-1
4			STGD4, p, MCDR2, p15.2-16.3, Retinal Degeneration, q16, PROML1	ARRP, p16.3, PDE6B ARRP, p12-cen, CNGA1 RP29, q32-34,	DIDMOAD, p16, WFS1 Wolfram Syndrome 2, q22 - q24,
5			MCDR3, p13.1-15.33,	ARRP, q31.2-34, PDE6A		USH2C, q14.3-21.3, VLGR1	WGN1, q13-14
6			Retinitis punctata albescens, p12, RDS/Peripherin Retinal pattern dystrophy, p12, RDS/Peripherin ARMD1, p12.3-q16, Hemicentin BCAMD, p12.3-q16, IMPG1 PBCRA, q11-16.2, adRD, q11.1, GUCA1B adMD, q14, ELOVL4 STGD3, q14, ELOVL4 Dominant drusen with macular dystrophy, q14 autosomal dominant Stargardt-like Macular Dystrophy, q16, MCDR1, q16,	RP14, p21.3, TULP1 RP7, p12 ADRP, p12, RDS/Peripherin digenic RP, p12, RDS/Peripherin RP25, q14, ELOVL4	MCDR1, 6, Refsum Disease, adult 2, q22-24, PEX7 JBTS3, q23.3, AHI1
7			DCMD, p21-15	RP9, p14, RP9 RP10, q31.3, IMPDH	Refsum Disease, q21-22, PEX1
8			VMD1, q24	RP1, q12-13, RP1	JBTS6, q, MKS3 Refsum Disease, infantile, q21.1, PXMP3 Ataxia and Retinitis Pigmentosa with isolated Vitamin E Deficiency, q13.1-13.3, TTPA JBTS6, q34.3, MKS3
9			ARMD1, q32-33, TLR4	RP31, p22-13 RP21, q34-ter	JBTS1, q34.3 RP21, q34-ter
10			Fundus Xerophthalmicus, q24, RBP4 AMD, q26, LOC387715	ADRP, q23, RGR ARRP, q23, RGR	Refsum Disease, adult, pter-11.2, PAHX Refsum Disease, adult with increased pipecolicacidemia, pter-11.2,	USH1F, q11.2-21, PCDH15 USH1D, q21-22, CDH23
11	CLN2, p15.5, CLN2		AA, p15, VMD2 BMD, q12-13.1, Bestrophin L-ORD, q23.3, CTRP5	ADRP, q13, ROM1 RP digenic, q13, ROM1	JBTS2, p12-q13.3	USH1C, p14.3, USH1C USH1B, q13.5, MyoVIIa	EVR3, p12-13 VRNI, q13 EVR1, q13-23, FZD4 EVR4, q13.2, LRP5
12			FA, q13-14, RDH5		STL, q13.11-13.13, COL2A1 Autosomal Dominant Rhegmatogenous Retinal Detachment, q13.11-13.13, COL2A1		WGN2, q13.11-13.2, COL2A1
13	CLN5, q21.1-32, CLN5		STGD2, q34	ARRP, q34, RHOK
14			AMD, q32.12, FBLN5	ADRP, q11, NRL ADRP/CMO, q11, NRL RP,si, q11, NRL RP16, q11-13.1		USH1A, q32,
15	CLN6, q21-23, CLN6		ESCS, q23, NR2E3, PNR NFRCD, q26, RLBP1 RPA, q26, RLBP1 BRD, q26, RLBP1	ARRP, q26, RLBP1	Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration, q24
16	CLN3, JCNL, p12.1, CLN3		PXE, p13.1, ABCC6/MPR6 HJMD, q22.1, CDH3	RP22, p12.3-12.1
17			CACD, p13-12 SPD, q24, RGS9	RP13, p13.3, PRPC8 RP36, q22, C2Y RP17, q23, CA4 RP30, q25, FSCN2		USH1G, q21, SANS
18		OPA4, q12.2-3
19		OPA3, q13.32, OPA3	SPD, q24, R9AP	ADRP, q13.3, CRX RP11, q13.4, PRKCG RP11, q13.4, PRPF31
20					AGS, p12, JAG1
21						USH1E, q21,
22		OPA5, q12.3	SFD, q12-13.2, TIMP3
X		OPA2, p11.4-11.21	PRD, p11.3-11.23, RS, p22.2, XLRS1	RP23, p22, RP15/CORD3, p22.13-22.11, RP3, p21.1, RPGR RP6, p21.3-21.2, RP2, p11.3-11.22, RP2 RP24, q26.2-27.2 RP34, q28	ND, p11.4, NDP OCRL, q25-26, OCRL1 MTS, p22.1, TIMM8A		XEFVR, p11.3-11.23, NDP
mt		LHON, mitochondrial			KS, mitochondrial NARP syndrome, mitochondrial, ATPase 6 Pigmentary Retinopathy and Sensorineural Deafness, mitochondrial, MTTH Wolfram Syndrome (Diabetes insipidus, diabetes mellitus, optic atrophy and deafness), mitochondrial, mitochondrial 11778	Sensorineural Deafness with RP, mitochondrial, MTTS2
Summary	6 Loci 6 Genes id.	6 Loci 3 Gene id.	46 Loci 29 Genes id.	54 Loci 39 Genes id.	25 Loci 19 Genes id.	12 Loci 9 Genes id.	6 Loci 3 Genes id.

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Contact the editor	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz