Ophthalmology

Genetic testing is becoming an increasingly important tool in determining the cause of hereditary ophthalmologic conditions. Currently, we know of more than 350 different genes associated with ophthalmologic diseases, including early-onset cataracts, glaucoma, retinitis pigmentosa, macular dystrophy, Stargardt disease, and Stickler syndrome among others. By providing a definitive diagnose through genetic testing, you can prevent or slow down the course of your patients’ eye diseases.

Order on CentoPortal

CentoVision

CentoVision is carefully designed to find the genetic basis of eye diseases, including those that are the leading causes of blindness among infants (Leber congenital amaurosis), children (early-onset retinitis pigmentosa), and adults (pattern dystrophy). Our panel includes the most common ophthalmology diseases, such as congenital glaucoma, retinitis pigmentosa, Stargardt disease, Stickler syndrome, achromatopsia, and Usher syndrome, among others. It also screens for different types of albinism (oculocutaneous and ocular) as well as Hermasky-Pudlak syndrome.

No. of genes:	450
TAT:	25 business days
Coverage:	≥99.00% ≥20x
Details:	NGS including CNV analysis

Order now Sample Requirements

Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ABCA4	601691	Fundus flavimaculatus	AR
		Cone-rod dystrophy 3	AR
		Retinal dystrophy, early-onset severe	AR
		Macular degeneration, age-related, 2	AD
		Retinitis pigmentosa 19	AR
		Stargardt disease 1	AR
ABCB6	605452	Microphthalmia, isolated, with coloboma 7	AD
		[Blood group, Langereis system]	-
		Dyschromatosis universalis hereditaria 3	AD
		Pseudohyperkalemia, familial, 2, due to red cell leak	AD
ABHD12	613599	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	AR
ACO2	100850	?Optic atrophy 9	AR
ACO2	100850	Infantile cerebellar-retinal degeneration	AR
ACVR1	102576	Fibrodysplasia ossificans progressiva	AD
ADAM9	602713	Cone-rod dystrophy 9	AR
ADAMTS18	607512	Microcornea, myopic chorioretinal atrophy, and telecanthus	AR
ADAMTSL4	610113	Ectopia lentis, isolated, autosomal recessive	AR
ADAMTSL4	610113	Ectopia lentis et pupillae	AR
ADGRV1	602851	Usher syndrome, type 2C	AR, DD
		?Febrile seizures, familial, 4	AD
		Usher syndrome, type 2C, GPR98/PDZD7 digenic	AR, DD
AFG3L2	604581	Spinocerebellar ataxia 28	AD
		Spastic ataxia 5, autosomal recessive	AR
		Optic atrophy 12	AD
AGBL5	615900	Retinitis pigmentosa 75	AR
AGK	610345	Sengers syndrome	AR
AGK	610345	Cataract 38, autosomal recessive	AR
AHI1	608894	Joubert syndrome 3	AR
AIPL1	604392	Cone-rod dystrophy	AD, AR
		Leber congenital amaurosis 4	AD, AR
		Retinitis pigmentosa, juvenile	AD, AR
ALDH18A1	138250	Cutis laxa, autosomal dominant 3	AD
		Cutis laxa, autosomal recessive, type IIIA	AR
		Spastic paraplegia 9B, autosomal recessive	AR
		Spastic paraplegia 9A, autosomal dominant	AD
ALDH1A3	600463	Microphthalmia, isolated 8	AR
AP3B1	603401	Hermansky-Pudlak syndrome 2	AR
APTX	606350	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	AR
ARHGEF18	616432	Retinitis pigmentosa 78	AR
ARL13B	608922	Joubert syndrome 8	AR
ARL2BP	615407	Retinitis pigmentosa with or without situs inversus	AR
ARL6	608845	Retinitis pigmentosa 55	AR
		Bardet-Biedl syndrome 1, modifier of	AR, DR
		Bardet-Biedl syndrome 3	AR
ARSG	610008	Usher syndrome, type IV	AR
ASB10	615054	Glaucoma 1, open angle, F	AD
ATF6	605537	Achromatopsia 7	AR
ATOH7	609875	Persistent hyperplastic primary vitreous, autosomal recessive	AR
AUH	600529	3-methylglutaconic aciduria, type I	AR
B9D1	614144	?Meckel syndrome 9	AR
B9D1	614144	Joubert syndrome 27	AR
B9D2	611951	?Meckel syndrome 10	AR
B9D2	611951	Joubert syndrome 34	AR
BBS1	209901	Bardet-Biedl syndrome 1	AR, DR
BBS10	610148	Bardet-Biedl syndrome 10	AR
BBS12	610683	Bardet-Biedl syndrome 12	AR
BBS2	606151	Bardet-Biedl syndrome 2	AR
BBS2	606151	Retinitis pigmentosa 74	AR
BBS4	600374	Bardet-Biedl syndrome 4	AR
BBS5	603650	Bardet-Biedl syndrome 5	AR
BBS7	607590	Bardet-Biedl syndrome 7	AR
BBS9	607968	Bardet-Biedl syndrome 9	AR
BCOR	-	Microphthalmia, syndromic 2	XLD
BEST1	607854	Macular dystrophy, vitelliform, 2	AD
		Retinitis pigmentosa-50	-
		?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2	AD
		Vitreoretinochoroidopathy	AD
		Bestrophinopathy, autosomal recessive	-
		Retinitis pigmentosa, concentric	-
BFSP1	603307	Cataract 33, multiple types	AD, AR
BFSP2	603212	Cataract 12, multiple types	AD
BLOC1S3	609762	Hermansky-Pudlak syndrome 8	AR
BLOC1S6	604310	?Hermansky-pudlak syndrome 9	AR
BMP4	112262	Microphthalmia, syndromic 6	AD
BMP4	112262	Orofacial cleft 11	-
C1QTNF5	608752	Retinal degeneration, late-onset, autosomal dominant	AD
C2CD3	615944	Orofaciodigital syndrome XIV	AR
CA4	114760	Retinitis pigmentosa 17	AD
CABP4	608965	Cone-rod synaptic disorder, congenital nonprogressive	AR
CACNA1F	300110	Aland Island eye disease	XL
		Night blindness, congenital stationary (incomplete), 2A, X-linked	XL
		Cone-rod dystrophy, X-linked, 3	XLR
CACNA2D4	608171	Retinal cone dystrophy 4	AR
CANT1	613165	Desbuquois dysplasia 1	AR
CANT1	613165	Epiphyseal dysplasia, multiple, 7	AR
CAPN5	602537	Vitreoretinopathy, neovascular inflammatory	AD
CC2D2A	612013	Meckel syndrome 6	AR
		Retinitis pigmentosa 93	AR
		Joubert syndrome 9	AR
		COACH syndrome 2	AR
CCDC28B	610162	Bardet-Biedl syndrome 1, modifier of	AR, DR
CDH23	605516	Deafness, autosomal recessive 12	AR
		Usher syndrome, type 1D	AR, DR
		Usher syndrome, type 1D/F digenic	AR, DR
		Pituitary adenoma 5, multiple types	AD
CDH3	114021	Ectodermal dysplasia, ectrodactyly, and macular dystrophy	AR
CDH3	114021	Hypotrichosis, congenital, with juvenile macular dystrophy	AR
CDHR1	609502	Cone-rod dystrophy 15	AR
CDHR1	609502	Retinitis pigmentosa 65	AR
CEP104	616690	Joubert syndrome 25	AR
CEP104	616690	Intellectual developmental disorder, autosomal recessive 77	-
CEP120	613446	Joubert syndrome 31	AR
CEP120	613446	Short-rib thoracic dysplasia 13 with or without polydactyly	AR
CEP164	614848	Nephronophthisis 15	AR
CEP290	610142	Leber congenital amaurosis 10	-
		Meckel syndrome 4	AR
		?Bardet-Biedl syndrome 14	AR
		Senior-Loken syndrome 6	AR
		Joubert syndrome 5	AR
CEP41	610523	Joubert syndrome 15	AR
CERKL	608381	Retinitis pigmentosa 26	AR
CFAP418	614477	Retinitis pigmentosa 64	AR
		Cone-rod dystrophy 16	AR
		Bardet-Biedl syndrome 21	AR
CHD7	608892	CHARGE syndrome	AD
CHD7	608892	Hypogonadotropic hypogonadism 5 with or without anosmia	AD
CHM	300390	Choroideremia	XL
CHMP4B	610897	Cataract 31, multiple types	AD
CIB2	605564	Usher syndrome, type IJ	AR
CIB2	605564	Deafness, autosomal recessive 48	AR
CISD2	611507	Wolfram syndrome 2	AR
CLCN7	602727	Osteopetrosis, autosomal recessive 4	AR
		Osteopetrosis, autosomal dominant 2	AD
		Hypopigmentation, organomegaly, and delayed myelination and development	AD
CLN3	607042	Ceroid lipofuscinosis, neuronal, 3	AR
CLN5	-	Ceroid lipofuscinosis, neuronal, 5	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, Kufs type, adult onset	AR
CLN6	606725	Ceroid lipofuscinosis, neuronal, 6	AR
CLN8	607837	Ceroid lipofuscinosis, neuronal, 8	AR
CLN8	607837	Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant	AR
CLPB	616254	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia	AR
		3-methylglutaconic aciduria, type VIIA, autosomal dominant	AD
		Neutropenia, severe congenital, 9, autosomal dominant	AD
CLRN1	606397	Retinitis pigmentosa 61	-
CLRN1	606397	Usher syndrome, type 3A	AR
CNGA1	123825	Retinitis pigmentosa 49	-
CNGA3	600053	Achromatopsia 2	AR
CNGB1	600724	Retinitis pigmentosa 45	AR
CNGB3	605080	Achromatopsia 3	AR
CNNM4	607805	Jalili syndrome	AR
COL11A1	120280	Marshall syndrome	AD
		Fibrochondrogenesis 1	AR
		Lumbar disc herniation, susceptibility to	-
		?Deafness, autosomal dominant 37	AD
		Stickler syndrome, type II	AD
COL11A2	120290	Deafness, autosomal recessive 53	AR
		Otospondylomegaepiphyseal dysplasia, autosomal recessive	AR
		Fibrochondrogenesis 2	AD, AR
		Otospondylomegaepiphyseal dysplasia, autosomal dominant	AD
		Deafness, autosomal dominant 13	AD
COL2A1	120140	Legg-Calve-Perthes disease	AD
		Stickler syndrome, type I	AD
		Osteoarthritis with mild chondrodysplasia	AD
		Platyspondylic skeletal dysplasia, Torrance type	AD
		Spondyloepiphyseal dysplasia, Stanescu type	AD
		Kniest dysplasia	AD
		Czech dysplasia	AD
		Stickler sydrome, type I, nonsyndromic ocular	AD
		?Vitreoretinopathy with phalangeal epiphyseal dysplasia	AD
		?Epiphyseal dysplasia, multiple, with myopia and deafness	AD
		Avascular necrosis of the femoral head	AD
		Spondyloperipheral dysplasia	AD
		Achondrogenesis, type II or hypochondrogenesis	AD
		SMED Strudwick type	AD
		SED congenita	AD
COL4A1	120130	?Retinal arteries, tortuosity of	AD
		Hemorrhage, intracerebral, susceptibility to	-
		Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	AD
		Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	AD
		Brain small vessel disease with or without ocular anomalies	AD
COL9A1	120210	?Epiphyseal dysplasia, multiple, 6	AD
COL9A1	120210	Stickler syndrome, type IV	-
COL9A2	120260	?Stickler syndrome, type V	AR
COL9A2	120260	Epiphyseal dysplasia, multiple, 2	AD
COL9A3	120270	Epiphyseal dysplasia, multiple, 3, with or without myopathy	AD
		Intervertebral disc disease, susceptibility to	-
		Stickler syndrome, type VI	-
COX7B	300885	Linear skin defects with multiple congenital anomalies 2	XLD
CPLANE1	614571	Orofaciodigital syndrome VI	AR
CPLANE1	614571	Joubert syndrome 17	AR
CRB1	604210	Leber congenital amaurosis 8	AR
		Retinitis pigmentosa-12	AR
		Pigmented paravenous chorioretinal atrophy	AD
CRX	602225	Leber congenital amaurosis 7	-
CRX	602225	Cone-rod retinal dystrophy-2	AD
CRYAA	123580	Cataract 9, multiple types	AD, AR
CRYAB	123590	Cataract 16, multiple types	AD, AR
		Cardiomyopathy, dilated, 1II	AD
		Myopathy, myofibrillar, 2	AD
		Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	AR
CRYBA1	123610	Cataract 10, multiple types	AD
CRYBA4	123631	Cataract 23	-
CRYBB1	600929	Cataract 17, multiple types	AD, AR
CRYBB2	123620	Cataract 3, multiple types	AD
CRYBB3	123630	Cataract 22	AD, AR
CRYGB	123670	Cataract 39, multiple types, autosomal dominant	AD
CRYGC	123680	Cataract 2, multiple types	AD
CRYGD	123690	Cataract 4, multiple types	AD
CRYGS	123730	Cataract 20, multiple types	AD
CSPP1	611654	Joubert syndrome 21	AR
CTC1	613129	Cerebroretinal microangiopathy with calcifications and cysts	AR
CTDP1	604927	Congenital cataracts, facial dysmorphism, and neuropathy	AR
CTNNA1	116805	Macular dystrophy, patterned, 2	AD
CTNNB1	116806	Ovarian cancer, somatic	-
		Colorectal cancer, somatic	-
		Pilomatricoma, somatic	-
		Neurodevelopmental disorder with spastic diplegia and visual defects	AD
		Exudative vitreoretinopathy 7	AD
		Medulloblastoma, somatic	-
		Hepatocellular carcinoma, somatic	-
CTSD	116840	Ceroid lipofuscinosis, neuronal, 10	AR
CWC27	617170	Retinitis pigmentosa with or without skeletal anomalies	AR
CYP1B1	601771	Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset	AR
CYP1B1	601771	Anterior segment dysgenesis 6, multiple subtypes	AR
CYP27A1	606530	Cerebrotendinous xanthomatosis	AR
CYP4V2	608614	Bietti crystalline corneoretinal dystrophy	AR
DGUOK	-	Portal hypertension, noncirrhotic	AR
		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	AR
		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	AR
DHDDS	608172	Developmental delay and seizures with or without movement abnormalities	AD
		Retinitis pigmentosa 59	AR
		?Congenital disorder of glycosylation, type 1bb	AR
DHX38	605584	Retinitis pigmentosa 84	AR
DKC1	300126	Dyskeratosis congenita, X-linked	XLR
DNA2	601810	?Seckel syndrome 8	AR
DNA2	601810	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	AD
DNAJC19	608977	3-methylglutaconic aciduria, type V	AR
DNM1L	603850	Optic atrophy 5	AD
DNM1L	603850	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	AD, AR
DRAM2	613360	Cone-rod dystrophy 21	AR
DTNBP1	607145	Hermansky-Pudlak syndrome 7	AR
EDN3	131242	Waardenburg syndrome, type 4B	AD, AR
		Hirschsprung disease, susceptibility to, 4	AD
		Central hypoventilation syndrome, congenital	AD
EDNRB	131244	Waardenburg syndrome, type 4A	AD, AR
		Hirschsprung disease, susceptibility to, 2	AD
		ABCD syndrome	AR
EFEMP1	601548	Doyne honeycomb degeneration of retina	AD
ELOVL4	605512	Ichthyosis, spastic quadriplegia, and mental retardation	AR
		Stargardt disease 3	AD
		Spinocerebellar ataxia 34	AD
ENPP1	173335	Arterial calcification, generalized, of infancy, 1	AR
		Obesity, susceptibility to	AD, AR, MF
		Hypophosphatemic rickets, autosomal recessive, 2	AR
		Cole disease	AD
		Diabetes mellitus, non-insulin-dependent, susceptibility to	AD
EPHA2	176946	Cataract 6, multiple types	AD
ERCC1	126380	Cerebrooculofacioskeletal syndrome 4	AR
ERCC2	126340	?Cerebrooculofacioskeletal syndrome 2	AR
		Xeroderma pigmentosum, group D	AR
		Trichothiodystrophy 1, photosensitive	AR
ERCC5	133530	Xeroderma pigmentosum, group G	AR
		Cerebrooculofacioskeletal syndrome 3	AR
		Xeroderma pigmentosum, group G/Cockayne syndrome	AR
ERCC6	609413	Lung cancer, susceptibility to	AD, SM
		UV-sensitive syndrome 1	AR
		Premature ovarian failure 11	AD
		Macular degeneration, age-related, susceptibility to, 5	-
		Cockayne syndrome, type B	AR
		De Sanctis-Cacchione syndrome	AR
		Cerebrooculofacioskeletal syndrome 1	AR
ERCC8	609412	Cockayne syndrome, type A	AR
ERCC8	609412	UV-sensitive syndrome 2	AR
EYA1	601653	Anterior segment anomalies with or without cataract	AD
		Branchiootorenal syndrome 1, with or without cataracts	AD
		?Otofaciocervical syndrome	AD
		Branchiootic syndrome 1	AD
EYS	612424	Retinitis pigmentosa 25	AR
FAM126A	610531	Leukodystrophy, hypomyelinating, 5	AR
FAM161A	613596	Retinitis pigmentosa 28	-
FDXR	103270	Auditory neuropathy and optic atrophy	AR
FLVCR1	609144	Ataxia, posterior column, with retinitis pigmentosa	AR
FOXC1	601090	Anterior segment dysgenesis 3, multiple subtypes	AD
FOXC1	601090	Axenfeld-Rieger syndrome, type 3	AD
FOXL2	605597	Blepharophimosis, epicanthus inversus, and ptosis, type 1	AD, AR
		Blepharophimosis, epicanthus inversus, and ptosis, type 2	AD, AR
		Premature ovarian failure 3	AD
FRAS1	607830	Fraser syndrome 1	AR
FREM1	608944	Manitoba oculotrichoanal syndrome	AR
		Trigonocephaly 2	AD
		Bifid nose with or without anorectal and renal anomalies	AR
FREM2	608945	Fraser syndrome 2	AR
FREM2	608945	Cryptophthalmos, unilateral or bilateral, isolated	AR
FSCN2	607643	Retinitis pigmentosa 30	-
FTL	134790	Neurodegeneration with brain iron accumulation 3	AD
		Hyperferritinemia-cataract syndrome	AD
		L-ferritin deficiency, dominant and recessive	AD, AR
FYCO1	607182	Cataract 18, autosomal recessive	AR
FZD4	604579	Retinopathy of prematurity	AD
FZD4	604579	Exudative vitreoretinopathy 1	AD
GALE	606953	Galactose epimerase deficiency	AR
GALK1	604313	Galactokinase deficiency with cataracts	AR
GALT	606999	Galactosemia	AR
GBA	606463	Lewy body dementia, susceptibility to	AD
		Gaucher disease, type IIIC	AR
		Parkinson disease, late-onset, susceptibility to	AD, MF
		Gaucher disease, type II	AR
		Gaucher disease, type III	AR
		Gaucher disease, perinatal lethal	AR
		Gaucher disease, type I	AR
GCNT2	600429	Cataract 13 with adult i phenotype	AR
		[Blood group, Ii]	AD
		Adult i phenotype without cataract	AD
GDF3	606522	Klippel-Feil syndrome 3, autosomal dominant	-
		Microphthalmia, isolated 7	AD
		Microphthalmia with coloboma 6	AD
GDF6	601147	Leber congenital amaurosis 17	AR
		Multiple synostoses syndrome 4	AD
		Klippel-Feil syndrome 1, autosomal dominant	AD
		Microphthalmia, isolated 4	-
		Microphthalmia with coloboma 6, digenic	AD
GJA1	121014	Oculodentodigital dysplasia, autosomal recessive	AR
		Atrioventricular septal defect 3	AD
		Syndactyly, type III	AD
		Craniometaphyseal dysplasia, autosomal recessive	AR
		Palmoplantar keratoderma with congenital alopecia	AD
		Oculodentodigital dysplasia	AD
		Hypoplastic left heart syndrome 1	AR
		Erythrokeratodermia variabilis et progressiva 3	AD
GJA3	121015	Cataract 14, multiple types	AD
GJA8	600897	Cataract 1, multiple types	AD
GNAT2	139340	Achromatopsia 4	-
GNPTG	607838	Mucolipidosis III gamma	AR
GPR143	300808	Nystagmus 6, congenital, X-linked	XLR
GPR143	300808	Ocular albinism, type I, Nettleship-Falls type	XL
GRIP1	604597	Fraser syndrome 3	AR
GRN	138945	Ceroid lipofuscinosis, neuronal, 11	AR
		Frontotemporal lobar degeneration with ubiquitin-positive inclusions	AD
		Aphasia, primary progressive	AD
GUCA1A	600364	Cone dystrophy-3	AD
GUCA1A	600364	Cone-rod dystrophy 14	AD
GUCA1B	602275	Retinitis pigmentosa 48	-
GUCY2D	600179	Cone-rod dystrophy 6	AD, AR
		Leber congenital amaurosis 1	AR
		Night blindness, congenital stationary, type 1I	AR
		?Choroidal dystrophy, central areolar 1	AD
HARS1	142810	Usher syndrome type 3B	AR
HARS1	142810	Charcot-Marie-Tooth disease, axonal, type 2W	AD
HCCS	300056	Linear skin defects with multiple congenital anomalies 1	XLD
HESX1	601802	Septooptic dysplasia	AD, AR
		Pituitary hormone deficiency, combined, 5	AD, AR
		Growth hormone deficiency with pituitary anomalies	AD, AR
HEXA	606869	Tay-Sachs disease	AR
		[Hex A pseudodeficiency]	AR
		GM2-gangliosidosis, several forms	AR
HGSNAT	610453	Mucopolysaccharidosis type IIIC (Sanfilippo C)	AR
HGSNAT	610453	Retinitis pigmentosa 73	AR
HK1	142600	Retinitis pigmentosa 79	AD
		Hemolytic anemia due to hexokinase deficiency	AR
		Neurodevelopmental disorder with visual defects and brain anomalies	AD
		Neuropathy, hereditary motor and sensory, Russe type	AR
HMX1	142992	Oculoauricular syndrome	AR
HPS1	604982	Hermansky-Pudlak syndrome 1	AR
HPS3	606118	Hermansky-Pudlak syndrome 3	AR
HPS4	606682	Hermansky-Pudlak syndrome 4	AR
HPS5	607521	Hermansky-Pudlak syndrome 5	AR
HPS6	607522	Hermansky-Pudlak syndrome 6	AR
HSF4	602438	Cataract 5, multiple types	AD
HTRA2	606441	Parkinson disease 13	-
HTRA2	606441	3-methylglutaconic aciduria, type VIII	AR
IDH3B	604526	Retinitis pigmentosa 46	AR
IFT140	614620	Retinitis pigmentosa 80	AR
IFT140	614620	Short-rib thoracic dysplasia 9 with or without polydactyly	AR
IFT172	607386	Retinitis pigmentosa 71	AR
		Bardet-Biedl syndrome 20	AR
		Short-rib thoracic dysplasia 10 with or without polydactyly	AR
IFT27	615870	?Bardet-Biedl syndrome 19	AR
IMPDH1	146690	Leber congenital amaurosis 11	AD
IMPDH1	146690	Retinitis pigmentosa 10	AD
IMPG1	602870	Macular dystrophy, vitelliform, 4	AD, AR
IMPG1	602870	Retinitis pigmentosa 91	AD
IMPG2	607056	Macular dystrophy, vitelliform, 5	AD
IMPG2	607056	Retinitis pigmentosa 56	AR
INPP5E	613037	Mental retardation, truncal obesity, retinal dystrophy, and micropenis	AR
INPP5E	613037	Joubert syndrome 1	AR
IQCB1	609237	Senior-Loken syndrome 5	AR
KATNIP	616650	Joubert syndrome 26	AR
KCNJ13	603208	Snowflake vitreoretinal degeneration	AD
KCNJ13	603208	Leber congenital amaurosis 16	AR
KCNV2	607604	Retinal cone dystrophy 3B	AR
KIAA0586	610178	Joubert syndrome 23	AR
KIAA0586	610178	Short-rib thoracic dysplasia 14 with polydactyly	AR
KIF11	148760	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	AD
KIF7	611254	Joubert syndrome 12	AR
		?Hydrolethalus syndrome 2	AR
		?Al-Gazali-Bakalinova syndrome	AR
		Acrocallosal syndrome	AR
KIT	164920	Gastrointestinal stromal tumor, familial	AD, IC
		Germ cell tumors, somatic	-
		Piebaldism	AD
		Leukemia, acute myeloid, somatic	-
		Mastocytosis, systemic, somatic	-
		Mastocytosis, cutaneous	AD
KLHL7	611119	PERCHING syndrome	AR
KLHL7	611119	Retinitis pigmentosa 42	AD
LCA5	611408	Leber congenital amaurosis 5	AR
LEMD2	616312	Cataract 46, juvenile-onset	AR
LEMD2	616312	Marbach-Rustad progeroid syndrome	AD
LEP	164160	Obesity, morbid, due to leptin deficiency	AR
LEPR	601007	Obesity, morbid, due to leptin receptor deficiency	AR
LIM2	154045	Cataract 19, multiple types	AR
LMX1B	602575	Nail-patella syndrome	AD
LMX1B	602575	Focal segmental glomerulosclerosis 10	AD
LOXL1	153456	Exfoliation syndrome, susceptibility to	AD
LRAT	604863	Leber congenital amaurosis 14	AR
		Retinal dystrophy, early-onset severe	AR
		Retinitis pigmentosa, juvenile	AR
LRMDA	614537	Albinism, oculocutaneous, type VII	AR
LRP2	600073	Donnai-Barrow syndrome	AR
LRP5	603506	van Buchem disease, type 2	-
		Osteosclerosis	AD
		Osteoporosis	AD
		[Bone mineral density variability 1]	AD
		Osteopetrosis, autosomal dominant 1	AD
		Polycystic liver disease 4 with or without kidney cysts	AD
		Osteoporosis-pseudoglioma syndrome	AR
		Hyperostosis, endosteal	AD
		Exudative vitreoretinopathy 4	AD, AR
LSS	600909	Alopecia-mental retardation syndrome 4	AR
		Cataract 44	AR
		Hypotrichosis 14	AR
LTBP2	602091	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	AR
		Glaucoma 3, primary congenital, D	-
		?Weill-Marchesani syndrome 3, recessive	AR
LYST	606897	Chediak-Higashi syndrome	AR
LZTFL1	606568	Bardet-Biedl syndrome 17	AR
MAB21L2	604357	Microphthalmia/coloboma and skeletal dysplasia syndrome	AD, AR
MAF	177075	Ayme-Gripp syndrome	AD
MAF	177075	Cataract 21, multiple types	AD
MAK	154235	Retinitis pigmentosa 62	AR
MC1R	155555	[Skin/hair/eye pigmentation 2, blond hair/fair skin]	AR
		[Skin/hair/eye pigmentation 2, red hair/fair skin]	AR
		Melanoma, cutaneous malignant, 5	-
		UV-induced skin damage	AR
		[Analgesia from kappa-opioid receptor agonist, female-specific]	-
		Albinism, oculocutaneous, type II, modifier of	AR
MECR	608205	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	AR
MERTK	604705	Retinitis pigmentosa 38	AR
MFN2	608507	Hereditary motor and sensory neuropathy VIA	AD
		Charcot-Marie-Tooth disease, axonal, type 2A2B	AR
		Charcot-Marie-Tooth disease, axonal, type 2A2A	AD
MFRP	606227	Microphthalmia, isolated 5	AR
MFRP	606227	Nanophthalmos 2	-
MFSD8	611124	Ceroid lipofuscinosis, neuronal, 7	AR
MFSD8	611124	Macular dystrophy with central cone involvement	AR
MIP	154050	Cataract 15, multiple types	AD
MITF	156845	Melanoma, cutaneous malignant, susceptibility to, 8	-
		Waardenburg syndrome, type 2A	AD
		Waardenburg syndrome/ocular albinism, digenic	-
		Tietz albinism-deafness syndrome	AD
		COMMAD syndrome	AR
MKKS	604896	McKusick-Kaufman syndrome	AR
MKKS	604896	Bardet-Biedl syndrome 6	AR
MKS1	609883	Bardet-Biedl syndrome 13	AR
		Joubert syndrome 28	AR
		Meckel syndrome 1	AR
MLPH	606526	Griscelli syndrome, type 3	AR
MTRFR	613541	Spastic paraplegia 55, autosomal recessive	AR
MTRFR	613541	Combined oxidative phosphorylation deficiency 7	AR
MYH9	160775	Deafness, autosomal dominant 17	AD
MYH9	160775	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	AD
MYO5A	160777	Griscelli syndrome, type 1	AR
MYO7A	276903	Deafness, autosomal dominant 11	AD
		Usher syndrome, type 1B	AR
		Deafness, autosomal recessive 2	AR
MYOC	601652	Glaucoma 1A, primary open angle	AD
NAA10	300013	Ogden syndrome	XLD, XLR
NAA10	300013	Microphthalmia, syndromic 1	XL
NDP	300658	Norrie disease	XLR
NDP	300658	Exudative vitreoretinopathy 2, X-linked	XLD, XLR
NF2	607379	Neurofibromatosis, type 2	AD
		Schwannomatosis, somatic	-
		Meningioma, NF2-related, somatic	-
NHS	300457	Nance-Horan syndrome	XLD
NHS	300457	Cataract 40, X-linked	XL
NMNAT1	608700	Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis	AR
NMNAT1	608700	Leber congenital amaurosis 9	AR
NPHP1	607100	Joubert syndrome 4	AR
		Nephronophthisis 1, juvenile	AR
		Senior-Loken syndrome-1	AR
NPHP3	608002	Nephronophthisis 3	AR
		Meckel syndrome 7	AR
		Renal-hepatic-pancreatic dysplasia 1	AR
NPHP4	607215	Senior-Loken syndrome 4	AR
NPHP4	607215	Nephronophthisis 4	AR
NR0B2	604630	Obesity, mild, early-onset	AD, AR, MF
NR2F1	132890	Bosch-Boonstra-Schaaf optic atrophy syndrome	AD
NRL	162080	Retinitis pigmentosa 27	AD
NTF4	162662	Glaucoma 1, open angle, 1O	-
OCA2	611409	Albinism, oculocutaneous, type II	AR
		[Skin/hair/eye pigmentation 1, blue/nonblue eyes]	AR
		[Skin/hair/eye pigmentation 1, blond/brown hair]	AR
		Albinism, brown oculocutaneous	AR
OCRL	-	Lowe syndrome	XLR
OCRL	-	Dent disease 2	XLR
OFD1	300170	Joubert syndrome 10	XLR
		Simpson-Golabi-Behmel syndrome, type 2	XLR
		?Retinitis pigmentosa 23	XLR
		Orofaciodigital syndrome I	XLD
OPA1	605290	Optic atrophy 1	AD
		?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)	AR
		Glaucoma, normal tension, susceptibility to	-
		Optic atrophy plus syndrome	AD
		Behr syndrome	AR
OPA3	606580	3-methylglutaconic aciduria, type III	AR
OPA3	606580	Optic atrophy 3 with cataract	AD
OPN1LW	300822	Colorblindness, protan	XL
OPN1LW	300822	Blue cone monochromacy	XLR
OPTN	602432	Glaucoma, normal tension, susceptibility to	-
		Glaucoma 1, open angle, E	AD
		Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia	AD, AR
OSTM1	607649	Osteopetrosis, autosomal recessive 5	AR
OTX2	600037	Retinal dystrophy, early-onset, with or without pituitary dysfunction	AD
		Microphthalmia, syndromic 5	AD
		Pituitary hormone deficiency, combined, 6	AD
P3H2	610341	Myopia, high, with cataract and vitreoretinal degeneration	AR
PAX2	167409	Glomerulosclerosis, focal segmental, 7	AD
PAX2	167409	Papillorenal syndrome	AD
PAX3	606597	Waardenburg syndrome, type 3	AD, AR
		Rhabdomyosarcoma 2, alveolar	SM
		Craniofacial-deafness-hand syndrome	AD
		Waardenburg syndrome, type 1	AD
PAX6	607108	?Coloboma, ocular	AD
		Aniridia	AD
		?Morning glory disc anomaly	AD
		Keratitis	AD
		Optic nerve hypoplasia	AD
		?Coloboma of optic nerve	AD
		Anterior segment dysgenesis 5, multiple subtypes	AD
		Cataract with late-onset corneal dystrophy	AD
		Foveal hypoplasia 1	AD
PCARE	613425	Retinitis pigmentosa 54	-
PCDH15	605514	Usher syndrome, type 1D/F digenic	AR, DR
		Deafness, autosomal recessive 23	AR
		Usher syndrome, type 1F	AR
PDE6A	180071	Retinitis pigmentosa 43	-
PDE6B	180072	Retinitis pigmentosa-40	AR
PDE6B	180072	Night blindness, congenital stationary, autosomal dominant 2	AD
PDE6C	600827	Cone dystrophy 4	AR
PDE6G	180073	Retinitis pigmentosa 57	AR
PDE6H	601190	Achromatopsia 6	AD, AR
PDE6H	601190	Retinal cone dystrophy 3	AD, AR
PDZD7	612971	Retinal disease in Usher syndrome type IIA, modifier of	AR
		Usher syndrome, type IIC, GPR98/PDZD7 digenic	AR, DD
		Deafness, autosomal recessive 57	AR
PEX1	602136	Peroxisome biogenesis disorder 1A (Zellweger)	AR
		Peroxisome biogenesis disorder 1B (NALD/IRD)	AR
		Heimler syndrome 1	AR
PEX2	170993	Peroxisome biogenesis disorder 5B	AR
PEX2	170993	Peroxisome biogenesis disorder 5A (Zellweger)	AR
PEX7	601757	Peroxisome biogenesis disorder 9B	AR
PEX7	601757	Rhizomelic chondrodysplasia punctata, type 1	AR
PHF6	300414	Borjeson-Forssman-Lehmann syndrome	XLR
PHYH	602026	Refsum disease	AR
PIK3R5	611317	Ataxia-oculomotor apraxia 3	AR
PITPNM3	608921	Cone-rod dystrophy 5	AD
PITX2	601542	Anterior segment dysgenesis 4	AD
		Ring dermoid of cornea	AD
		Axenfeld-Rieger syndrome, type 1	AD
PITX3	602669	Anterior segment dysgenesis 1, multiple subtypes	AD
		Cataract 11, syndromic, autosomal recessive	AD, AR
		Cataract 11, multiple types	AD, AR
PLA2G5	601192	[Fleck retina, familial benign]	AR
PNKP	605610	Ataxia-oculomotor apraxia 4	AR
		Microcephaly, seizures, and developmental delay	AR
		?Charcot-Marie-Tooth disease, type 2B2	AR
PNPLA6	603197	Spastic paraplegia 39, autosomal recessive	AR
		Boucher-Neuhauser syndrome	AR
		Oliver-McFarlane syndrome	AR
		?Laurence-Moon syndrome	AR
POC1B	614784	Cone-rod dystrophy 20	AR
POLG	174763	Progressive external ophthalmoplegia, autosomal recessive 1	AR
		Progressive external ophthalmoplegia, autosomal dominant 1	AD
		Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)	AR
		Mitochondrial DNA depletion syndrome 4B (MNGIE type)	AR
		Mitochondrial DNA depletion syndrome 4A (Alpers type)	AR
POLG2	604983	Mitochondrial DNA depletion syndrome 16 (hepatic type)	AR
		?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)	AR
		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	AD
POMC	176830	Obesity, adrenal insufficiency, and red hair due to POMC deficiency	AR
POMC	176830	Obesity, early-onset, susceptibility to	AD, AR, MF
POMGNT1	606822	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	AR
		Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	AR
		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	AR
		Retinitis pigmentosa 76	AR
PPARG	-	Carotid intimal medial thickness 1	-
		Obesity, severe	AD, AR, MF
		Lipodystrophy, familial partial, type 3	AD
		Diabetes, type 2	AD
		Insulin resistance, severe, digenic	AD
PPT1	600722	Ceroid lipofuscinosis, neuronal, 1	AR
PQBP1	-	Renpenning syndrome	XLR
PRCD	610598	Retinitis pigmentosa 36	-
PRKCG	176980	Spinocerebellar ataxia 14	AD
PROM1	604365	Cone-rod dystrophy 12	AD, AR
		Macular dystrophy, retinal, 2	AD
		Retinitis pigmentosa 41	AR
		Stargardt disease 4	AD
PRPF3	607301	Retinitis pigmentosa 18	AD
PRPF31	606419	Retinitis pigmentosa 11	AD
PRPF4	607795	Retinitis pigmentosa 70	AD
PRPF6	613979	Retinitis pigmentosa 60	AD
PRPF8	607300	Retinitis pigmentosa 13	AD
PRPH2	179605	Retinitis pigmentosa 7 and digenic form	AD, AR, DD
		Retinitis punctata albescens	AD, AR
		Choroidal dystrophy, central areolar 2	AD
		Macular dystrophy, patterned, 1	AD
		Macular dystrophy, vitelliform, 3	AD
		Leber congenital amaurosis 18	AD, AR, DD
PRPS1	311850	Charcot-Marie-Tooth disease, X-linked recessive, 5	XLR
		Deafness, X-linked 1	XL
		Phosphoribosylpyrophosphate synthetase superactivity	XLR
		Arts syndrome	XLR
		Gout, PRPS-related	XLR
PRSS56	613858	Microphthalmia, isolated 6	AR
PXDN	605158	Anterior segment dysgenesis 7, with sclerocornea	AR
RAB18	602207	Warburg micro syndrome 3	AR
RAB27A	603868	Griscelli syndrome, type 2	AR
RAB28	612994	Cone-rod dystrophy 18	AR
RAB3GAP1	602536	Martsolf syndrome 2	AR
RAB3GAP1	602536	Warburg micro syndrome 1	AR
RAB3GAP2	609275	Warburg micro syndrome 2	AR
RAB3GAP2	609275	Martsolf syndrome	AR
RARB	180220	Microphthalmia, syndromic 12	AD, AR
RAX	601881	Microphthalmia, isolated 3	AR
RAX2	610362	Cone-rod dystrophy 11	AD
		?Macular degeneration, age-related, 6	-
		Retinitis pigmentosa 95	-
RBP3	180290	?Retinitis pigmentosa 66	AR
RBP4	180250	Microphthalmia, isolated, with coloboma 10	AD
RBP4	180250	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	AR
RD3	180040	Leber congenital amaurosis 12	AR
RDH12	608830	Leber congenital amaurosis 13	AD, AR
RDH5	601617	Fundus albipunctatus	AD, AR
REEP6	609346	Retinitis pigmentosa 77	AR
RGR	600342	Retinitis pigmentosa 44	-
RGS9	604067	Bradyopsia	-
RGS9BP	607814	Bradyopsia	-
RHO	180380	Retinitis punctata albescens	AD, AR
		Retinitis pigmentosa 4, autosomal dominant or recessive	AD, AR
		Night blindness, congenital stationary, autosomal dominant 1	-
RIMS1	606629	Cone-rod dystrophy 7	AD
RLBP1	180090	Newfoundland rod-cone dystrophy	-
		Fundus albipunctatus	AD, AR
		Retinitis punctata albescens	AD, AR
		Bothnia retinal dystrophy	AR
ROM1	180721	Retinitis pigmentosa 7, digenic form	AD, AR, DD
RP1	603937	Retinitis pigmentosa 1	AD, AR
RP1L1	608581	Occult macular dystrophy	AD
RP1L1	608581	Retinitis pigmentosa 88	AR
RP2	300757	Retinitis pigmentosa 2	XL
RPE65	180069	Leber congenital amaurosis 2	AR
		Retinitis pigmentosa 20	AR
		Retinitis pigmentosa 87 with choroidal involvement	AD
RPGR	312610	Cone-rod dystrophy, X-linked, 1	XLR
		Macular degeneration, X-linked atrophic	XLR
		Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	-
		Retinitis pigmentosa 3	-
RPGRIP1	605446	Cone-rod dystrophy 13	AR
RPGRIP1	605446	Leber congenital amaurosis 6	AR
RPGRIP1L	610937	Joubert syndrome 7	AR
		?COACH syndrome 3	AR
		Meckel syndrome 5	AR
RRM2B	604712	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	AR
		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	AD
		Mitochondrial DNA depletion syndrome 8B (MNGIE type)	AR
		Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction	AR
RS1	300839	Retinoschisis	XLR
RTN4IP1	610502	Optic atrophy 10 with or without ataxia, mental retardation, and seizures	AR
SAG	181031	Retinitis pigmentosa 47	-
SAG	181031	Oguchi disease-1	AR
SBF2	607697	Charcot-Marie-Tooth disease, type 4B2	AR
SDCCAG8	613524	Bardet-Biedl syndrome 16	AR
SDCCAG8	613524	Senior-Loken syndrome 7	AR
SEMA4A	607292	Retinitis pigmentosa 35	AD, AR
SEMA4A	607292	Cone-rod dystrophy 10	AR
SERAC1	614725	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	AR
SETX	608465	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	AR
SETX	608465	Amyotrophic lateral sclerosis 4, juvenile	AD
SHH	600725	Schizencephaly	-
		Microphthalmia with coloboma 5	AD
		Single median maxillary central incisor	AD
		Holoprosencephaly 3	AD
SIL1	608005	Marinesco-Sjogren syndrome	AR
SIX3	603714	Holoprosencephaly 2	AD
SIX3	603714	Schizencephaly	-
SIX6	606326	Optic disc anomalies with retinal and/or macular dystrophy	AR
SLC16A12	611910	Cataract 47, juvenile, with microcornea	AD
SLC24A5	609802	Albinism, oculocutaneous, type VI	AR
SLC24A5	609802	[Skin/hair/eye pigmentation 4, fair/dark skin]	AR
SLC25A4	103220	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR	AR
		Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD	AD
		Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	AD
SLC25A46	610826	Neuropathy, hereditary motor and sensory, type VIB	AR
SLC25A46	610826	Pontocerebellar hypoplasia, type 1E	AR
SLC33A1	603690	Congenital cataracts, hearing loss, and neurodegeneration	AR
SLC33A1	603690	Spastic paraplegia 42, autosomal dominant	AD
SLC38A8	615585	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis	AR
SLC45A2	606202	[Skin/hair/eye pigmentation 5, black/nonblack hair]	AR
		[Skin/hair/eye pigmentation 5, dark/fair skin]	AR
		Albinism, oculocutaneous, type IV	AR
		[Skin/hair/eye pigmentation 5, dark/light eyes]	AR
SLC52A2	607882	Brown-Vialetto-Van Laere syndrome 2	AR
SLC7A14	615720	Retinitis pigmentosa 68	AR
SLC9A6	300231	Mental retardation, X-linked syndromic, Christianson type	XL
SMCHD1	614982	Bosma arhinia microphthalmia syndrome	AD
SMCHD1	614982	Fascioscapulohumeral muscular dystrophy 2, digenic	DD
SMOC1	608488	Microphthalmia with limb anomalies	AR
SNAI2	602150	Waardenburg syndrome, type 2D	AR
SNAI2	602150	Piebaldism	AD
SNRNP200	601664	Retinitis pigmentosa 33	AD
SNX10	614780	Osteopetrosis, autosomal recessive 8	AR
SOX10	602229	Waardenburg syndrome, type 4C	AD
		PCWH syndrome	AD
		Waardenburg syndrome, type 2E, with or without neurologic involvement	AD
SOX2	184429	Microphthalmia, syndromic 3	AD
SOX2	184429	Optic nerve hypoplasia and abnormalities of the central nervous system	AD
SPATA7	609868	Retinitis pigmentosa, juvenile, autosomal recessive	-
SPATA7	609868	Leber congenital amaurosis 3	-
SPG7	602783	Spastic paraplegia 7, autosomal recessive	AD, AR
STRA6	610745	Microphthalmia, isolated, with coloboma 8	AR
STRA6	610745	Microphthalmia, syndromic 9	AR
TBC1D20	611663	Warburg micro syndrome 4	AR
TBK1	604834	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	AD
TBK1	604834	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	AD
TCIRG1	604592	Osteopetrosis, autosomal recessive 1	AR
TCTN1	609863	Joubert syndrome 13	AR
TCTN2	613846	?Meckel syndrome 8	AR
TCTN2	613846	Joubert syndrome 24	AR
TCTN3	613847	Joubert syndrome 18	AR
TCTN3	613847	Orofaciodigital syndrome IV	AR
TDRD7	611258	Cataract 36	AR
TEK	600221	Glaucoma 3, primary congenital, E	AD
TEK	600221	Venous malformations, multiple cutaneous and mucosal	AD
TENM3	610083	Microphthalmia, syndromic 15	AR
TENM3	610083	?Microphthalmia, isolated, with coloboma 9	AR
TFAP2A	107580	Branchiooculofacial syndrome	AD
TIMM50	607381	3-methylglutaconic aciduria, type IX	AR
TIMM8A	300356	Mohr-Tranebjaerg syndrome	XLR
TIMP3	188826	Sorsby fundus dystrophy	AD
TK2	188250	Mitochondrial DNA depletion syndrome 2 (myopathic type)	AR
TK2	188250	?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	AR
TMEM107	616183	Meckel syndrome 13	AR
		?Joubert syndrome 29	AR
		Orofaciodigital syndrome XVI	AR
TMEM126A	612988	Optic atrophy 7	AR
TMEM138	614459	Joubert syndrome 16	AR
TMEM216	613277	Meckel syndrome 2	AR
TMEM216	613277	Joubert syndrome 2	AR
TMEM231	614949	Joubert syndrome 20	AR
TMEM231	614949	Meckel syndrome 11	AR
TMEM237	614423	Joubert syndrome 14	AR
TMEM67	609884	COACH syndrome 1	AR
		?RHYNS syndrome	AR
		Meckel syndrome 3	AR
		Joubert syndrome 6	AR
		Bardet-Biedl syndrome 14, modifier of	AR
		Nephronophthisis 11	AR
TMEM70	612418	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	AR
TNFRSF11A	603499	Paget disease of bone 2, early-onset	AD
		Osteopetrosis, autosomal recessive 7	AR
		Osteolysis, familial expansile	AD
TNFSF11	602642	Osteopetrosis, autosomal recessive 2	AR
TOPORS	609507	Retinitis pigmentosa 31	-
TPP1	607998	Ceroid lipofuscinosis, neuronal, 2	AR
TPP1	607998	Spinocerebellar ataxia, autosomal recessive 7	AR
TRAF3IP1	607380	Senior-Loken syndrome 9	AR
TRIM32	602290	Muscular dystrophy, limb-girdle, autosomal recessive 8	AR
TRIM32	602290	?Bardet-Biedl syndrome 11	AR
TRNT1	612907	Retinitis pigmentosa and erythrocytic microcytosis	AR
TRNT1	612907	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	AR
TSPAN12	613138	Exudative vitreoretinopathy 5	AD
TTC21B	612014	Short-rib thoracic dysplasia 4 with or without polydactyly	AR
TTC21B	612014	Nephronophthisis 12	AD, AR
TTC8	-	Bardet-Biedl syndrome 8	AR
TTC8	-	?Retinitis pigmentosa 51	AR
TTLL5	612268	Cone-rod dystrophy 19	AR
TTPA	600415	Ataxia with isolated vitamin E deficiency	AR
TULP1	602280	Retinitis pigmentosa 14	AR
TULP1	602280	Leber congenital amaurosis 15	AR
TWNK	606075	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	AD
		Perrault syndrome 5	AR
		Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	AR
TYMP	131222	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	AR
TYR	606933	[Skin/hair/eye pigmentation 3, light/dark/freckling skin]	AD
		Waardenburg syndrome/albinism, digenic	-
		[Skin/hair/eye pigmentation 3, blue/green eyes]	AD
		Melanoma, cutaneous malignant, susceptibility to, 8	AD
		Albinism, oculocutaneous, type IA	AR
		Albinism, oculocutaneous, type IB	AR
TYRP1	115501	[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)]	-
TYRP1	115501	Albinism, oculocutaneous, type III	AR
USH1C	605242	Usher syndrome, type 1C	AR
USH1C	605242	Deafness, autosomal recessive 18A	AR
USH1G	607696	Usher syndrome, type 1G	AR
USH2A	608400	Usher syndrome, type 2A	AR
USH2A	608400	Retinitis pigmentosa 39	-
VCAN	118661	Wagner syndrome 1	AD
VIM	193060	Cataract 30, pulverulent	AD
VPS13B	607817	Cohen syndrome	AR
VSX2	142993	Microphthalmia, isolated 2	-
VSX2	142993	Microphthalmia with coloboma 3	-
WDPCP	613580	Congenital heart defects, hamartomas of tongue, and polysyndactyly	AR
WDPCP	613580	?Bardet-Biedl syndrome 15	AR
WDR19	608151	?Cranioectodermal dysplasia 4	AR
		?Short-rib thoracic dysplasia 5 with or without polydactyly	AR
		Nephronophthisis 13	AR
		?Spermatogenic failure 72	-
		Senior-Loken syndrome 8	AR
WDR36	609669	Glaucoma 1, open angle, G	-
WFS1	606201	?Cataract 41	AD
		Wolfram-like syndrome, autosomal dominant	AD
		Wolfram syndrome 1	AR
		Diabetes mellitus, noninsulin-dependent, association with	AD
		Deafness, autosomal dominant 6/14/38	AD
WHRN	607928	Deafness, autosomal recessive 31	AR
WHRN	607928	Usher syndrome, type 2D	AR
WRN	604611	Werner syndrome	AR
ZIC2	603073	Holoprosencephaly 5	AD
ZNF408	616454	Retinitis pigmentosa 72	AR
ZNF408	616454	?Exudative vitreoretinopathy 6	AD
ZNF423	604557	Joubert syndrome 19	AD, AR
ZNF423	604557	Nephronophthisis 14	AD, AR
ZNF513	613598	?Retinitis pigmentosa 58	AR

COMMON SYNDROMES AND DISORDERS COVERED

Achromatopsia
Albinism
Bardet-Biedl syndrome
Cataract
Cone-rod and cone dystrophy
Flecked retina
Glaucoma
Hermansky-Pudlak syndrome
Leber congenital amaurosis
Meckel syndrome
Microphthalmia/anophthalmia/coloboma spectrum
Oculomotor apraxia
Optic atrophy
Progressive external ophthalmoplegia
Retinitis pigmentosa, autosomal dominant
Retinitis pigmentosa, autosomal recessive
Stargardt disease
Stickler syndrome
Usher syndrome
Vitreoretinopathy
Wagner syndrome

Visit Our Online Ordering Portal

CentoPortal^® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

Order a Test

Ophthalmology

Visit Our Online Ordering Portal

CentoPortal® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

CentoPortal^® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.