Ophthalmology

Information for health professionals

MEDICAL GENETIC TESTING FOR OPHTHALMOLOGY Recent technologies, in particularly Next Generation Sequencing (NGS), allows fast, accurate and valuable diagnostic tests. For Ophthalmology, CGC Genetics has an extensive list of medical genetic tests with clinical integration of results by our Medical Geneticists. 1. EXOME SEQUENCING: Exome Sequencing is a very efficient strategy to study most exons of a patient’s genome, unraveling associated with specific disorders or phenotypes. With this diagnostic strategy, patients can be studied witha significantly reduced turnaround time and cost. CGC Genetics has available 2 options for Exome Sequencing: • Whole Exome Sequencing (WES), which analyzes the entire exome (about 20 000 genes); • Disease Exome by CGC Genetics, which analyzes about 6 000 clinically-relevant genes. Any of these can be performed in the index case or in a Trio. 2. NGS PANELS For NGS panels, several genes associated with the same phenotype are simultaneously sequenced. These panels provide increased diagnostic capability with a significantly reduced turnaround time and cost. CGC Genetics has several NGS panels for Ophthalmology that are constantly updated (www.cgcgenetics.com). Any gene studied in exome or NGS panel can also be individually sequenced and analyzed for /duplication events. 3. EXPERTISE IN CGC Genetics has Medical Geneticists specialized in genetic counseling for ophthalmological diseases who may advice in choosing the most appropriate genetic test or help in the interpretation of a result.

NGS PANELS AVAILABLE FOR OPHTHALMOLOGY:

• Cone-rod dystrophy • Retinite pigmentosa, AR and • Marfan and Loeys-Dietz • Neurofibromatosis • Stargardt disease and X-linked syndromes and aortic type 1 and type 2 and macular dystrophy • aneurysm Schwannomatosis • • Usher syndrome • • Bardet-Biedl syndrome • pigmentosa • Marfan and Loeys-Dietz • Leber congenital amaurosis • Senior-Loken syndrome • , AD and syndromes • X-linked • LIST OF TESTS

• 2 (sequence analysis of • Bardet-Biedl syndrome 17 (sequence analysis • Chondrodysplasia punctata, X-linked • Duane retraction syndrome (sequence CNGA3 gene) of LZTFL1 gene) dominant (sequence analysis of EBP gene) analysis of SALL4 gene) • Achromatopsia 2 (sequence analysis of • Bardet-Biedl syndrome 4 (sequence analysis • Choriodal dystrophy, central areolar 2 • Duane retraction syndrome 2 (sequence PDE6C gene) of BBS4 gene) (sequence analysis of PRPH2 gene) analysis of CHN1 gene) • Achromatopsia 3 (sequence analysis of • Bardet-Biedl syndrome 7 (sequence analysis • (deletion/duplication analysis • Duane-radial ray syndrome (deletion/ CNGB3 gene) of BBS7 gene) on CHM, RPGR and RP2 gene) duplication analysis on SALL4 gene) • Achromatopsia 4 (sequence analysis of • Bardet-Biedl syndrome 9 (sequence analysis • Choroideremia (sequence analysis of CHM • Duane-radial ray syndrome (sequence GNAT2 gene) of BBS9 gene) gene) analysis of SALL4 gene) • Achromatopsia 6 (sequence analysis of • Bardet-Biedl syndrome CCDC28B related • Ciliopathies (NGS panel for 91 genes) • (sequence analysis of PDE6H gene) (sequence analysis of CCDC28B gene) • of (deletions/ CTC1 gene) • Alagille syndrome (deletion/duplication • Bardet-Biedl syndrome type 2 (sequence duplications analysis of PAX6 gene) • Ectodermal dysplasia, ectrodactyly and analysis on JAG1 gene) analysis of BBS2 gene) • Coloboma of (sequence analysis macular dystrophy (sequence analysis of • Alagille syndrome (sequence analysis of • Bardet-Biedl syndrome type 5 (sequence of PAX6 gene) CDH3 gene) JAG1 gene) analysis of BBS5 gene) • Combined oxidative phosphorylation • Ectodermal dysplasia-ectrodactyly-macular • Alagille syndrome 2 (sequence analysis of • Bardet-Bield syndrome type 6 (sequence deficiency type 15 (sequence analysis of dystrophy syndrome (deletion/duplication NOTCH2 gene) analysis of MKKS gene) MTFMT gene) analysis of CDH3 gene) Ehlers-Danlos, Marfan and Loeys-Dietz • Aland Island (sequence analysis • , epicanthus inversus and • Cone-rod dystrophy (NGS panel for 36 genes) • of CACNA1F gene) , types 1 and 2 (BPES 1 and 2, deletion/ syndromes, aortic aneurysm and differential • Cone-rod dystrophy (sequence analysis of duplication analysis on FOXL2 gene) diagnosis (NGS panel for 44 genes) • Albinism (NGS panel for 12 genes) AIPL1 gene) • Bothnia retinal dystrophy (sequence analysis • Encephalomyopathy, mitochondrial • Albinism oculocutaneous type II (deletion/ • Cone-rod dystrophy (sequence analysis of of RLBP1 gene) (sequence analysis of MT-TL2 gene) duplication analysis on OCA2 gene) UNC119 gene) • Bradyopsia (sequence analysis of RGS9 gene) • Exudative vitreoretinopathy 5 (sequence • Albinism oculocutaneous type II (sequence • Cone-rod dystrophy 11 (sequence analysis of analysis of TSPAN12 gene) analysis of OCA2 gene) • Brittle syndrome 1 (sequence analysis RAX2 gene) of ZNF469 gene) • Familial (sequence analysis of • Albinism oculocutaneous type VI (sequence • Cone-rod dystrophy 14 (sequence analysis of ADAMTSL4 gene) analysis of SLC24A5 gene) • Capillary malformations, congenital GUCA1A gene) ( p. Arg183GIn on GNAQ gene) • Fibrosis of , congenital 2 • Albinism oculocutaneous type VII (sequence • Cone-rod dystrophy 15 (sequence analysis of (sequence analysis of PHOX2A gene) analysis of C10orf11 gene) • Carney complex (deletion/duplication CDHR1 gene) analysis on PRKAR1A gene) • Fibrosis of extraocular muscles, congenital • Albinism, oculocutaneous type I (sequence • Cone-rod dystrophy 5 (sequence analysis of type 1 (sequence analysis of KIF21A gene) analysis of TYR gene) • 1, multiple types (sequence analysis PITPNM3 gene) of GJA8 gene) • Fleck , familial benign (sequence • Albinism, oculocutaneous type IB (deletion/ • Cone-rod dystrophy 7 (sequence analysis of analysis of PLA2G5 gene) duplication analysis on TYR gene) • Cataract 13 with adult i phenotype (sequence RIMS1 gene) analysis of GCNT2 gene) • Frank-ter Haar syndrome (sequence analysis • Alstrom syndrome (sequence analysis of • Cone-rod dystrophy 9 (sequence analysis of of SH3PXD2B gene) ALMS1 gene) • Cataract 17, multiple types (sequence ADAM9 gene) analysis of CRYBB1 gene) • Fraser syndrome (sequence analysis of GRIP1 • Alstrom syndrome (sequence analysis of • Cone-rod dystrophy, X-linked (sequence gene) exons 8, 10 and 16 of ALMS1 gene) • Cataract 18, AR (sequence analysis of FYCO1 analysis of exon 15a of RPGR gene) gene) • Fukuyama congenital muscular dystrophy • Amish infantile epilepsy syndrome (sequence • Congenital disorder of type (sequence analysis of FKTN gene) analysis of ST3GAL5 gene) • Cataract 19 (sequence analysis of CRYBB3 Ia (deletion/duplication analysis on PMM2 Fundus albipunctatus (sequence analysis of gene) gene) • • Amyloidosis, finnish type (sequence analysis RLBP1 gene) of GSN gene) • Cataract 22, AR (sequence analysis of CRYBB3 • Congenital disorder of glycosylation type Ia Fundus albipunctatus and related disorders gene) (sequence analysis of PMM2 gene) • • (deletion/duplication analysis on (NGS panel for 7 genes) PAX6 gene) • Cataract 23 (sequence analysis of CRYBA4 • Congenital fibrosis of extraocular muscles Galactosemia type II (sequence analysis of gene) (sequence analysis of TUBB2B gene) • • Aniridia (sequence analysis of PAX6 gene) GALK1 gene) • Cataract 33 (sequence analysis of BFSP1 • Congenital fibrosis of extraocular muscles • Anterior segment mesenchymal dysgenesis (sequence analysis of gene) (sequence analysis of TUBB3 gene) • (sequence analysis of FOXE3 gene) ITPR1 gene) • Cataract 36 (sequence analysis of TDRD7 • Congenital (deletion/duplication • Anterior segment mesenchymal dysgenesis Glaucoma, open angle type 1G (sequence gene) analysis on CYP1B1 gene) • (sequence analysis of PITX3 gene) analysis of WDR36 gene) • Cataract 38, AR (sequence analysis of AGK • Congenital glaucoma (sequence analysis of • Aplasia of lacrimal and salivary glands Glaucoma, primary congenital (sequence gene) CYP1B1 gene) • (sequence analysis of FGF10 gene) analysis of LTBP2 gene) • Cataract 4, multiple types (sequence analysis • Congenital muscular dystrophy and • Apolipoprotein E deficiency (sequence Glycosylation disorder type Id (sequence of CRYGD gene) hypoglycosylation of a-dystroglycan • analysis of APOE gene) analysis of ALG3 gene) • Cataract 40, X-linked (sequence analysis of (sequence analysis of B3GALNT2 gene) • Asphyxiating thoracic dystrophy of the • Glycosylation disorder type Ii (sequence NHS gene) • Congenital stationary night blindness 1C, newborn type 3 (deletions / duplications in analysis of ALG2 gene) the DYNC2H1 gene) • Cataract 5, multiple types (sequence analysis AR (deletion/duplication analysis of TRPM1 of HSF4 gene) gene) • GM1 Gangliosidosis (sequence analysis of • with oculomotor apraxia (sequence GLB1 gene) analysis of APTX gene) • Cataract 9, multiple types (sequence analysis • , autosomal recessive of CRYAA gene) (sequence analysis of KERA gene) • GM2-gangliosidosis type 2 (Sandhoff disease, • Ataxia, posterior column, with retinitis sequence analysis of HEXB gene) pigmentosa (sequence analysis of FLVCR1 • Cataract type 12 (sequence analysis of BFSP2 • , Avellino type (mutations Gyrate atrophy of and retina with or gene) gene) pArg555trp and pArg124His on TGFBI gene) • without ornithinemia (sequence analysis of • Corneal endothelial dystrophy 2, AR • Ataxia-ocular apraxia 2 (AOA2, sequence • Cataracts (NGS panel for 41 genes) OAT gene) analysis of SETX gene) (sequence analysis of SLC4A11 gene) • Cataracts with facial dysmorphism and • Hamamy syndrome (sequence analysis of • Corpus callosum agenesis - cataract - • Ataxia-oculomotor apraxia type 3 (sequence neuropathy (sequence analysis of CTDP1 IRX5 gene) analysis of PIK3R5 gene) gene) immunodeficiency (sequence analysis of EPG5 gene) • Hereditary , including • Ataxia-oculomotor apraxia type 4 (sequence • Central areolar choroidal dystrophy Leber's hereditary optic neuropathy (NGS • Corpus callosum agenesis of with mental analysis of PNKP gene) (sequence analysis of GUCY2D gene) panel for 5 genes and 3 frequent mutations retardation, ocular coloboma and on mt DNA) • Athabaskan brainstem dysgenesis syndrome • Cerebro oculo facio skeletal syndrome 4 micrognathia (sequence analysis of IGBP1 (sequence analysis of HOXA1 gene) (sequence analysis of ERCC1 gene) gene) • Hermansky-Pudlak syndrome 1 (sequence analysis of HPS1 gene) • Axenfeld-Rieger syndrome (deletion/ • Cerebrotendinous xanthomatosis (sequence • Cortical malformations, occipital (sequence duplication analysis on PITX2 and FOXC1 analysis of CYP27A1 gene) analysis of LAMC3 gene) • Hermansky-Pudlak syndrome 2 (sequence genes) analysis of AP3B1 gene) • CHARGE syndrome (deletion/duplication • Culler-Jones syndrome | Holoprosencephaly • Axenfeld-Rieger syndrome (sequence analysis analysis on CHD7 gene) 9 (sequence analysis of GLI2 gene) • Hermansky-Pudlak syndrome 4 (sequence of FOXC1 gene) analysis of HPS4 gene) • CHARGE syndrome (sequence analysis of • (deletion/duplication analysis on • Axenfeld-Rieger syndrome (sequence analysis CHD7 gene) CTNS gene) • Hermansky-Pudlak syndrome 5 (sequence of PITX2 gene) analysis of HPS5 gene) • CHARGE syndrome (sequence analysis of • Cystinosis (sequence analysis of CTNS gene) • Bardet-Biedl syndrome (NGS panel for 22 SEMA3E gene) • Hermansky-Pudlak syndrome 6 (sequence • Diabetes mellitus neonatal (sequence genes) analysis of HPS6 gene) • Chediak-Higashi syndrome (deletion/ analysis of GLIS3 gene) • Bardet-Biedl syndrome 10 (sequence analysis duplication analysis on LYST gene) • Hermansky-Pudlak syndrome 7 (sequence • Disease exome by CGC Genetics of BBS10 gene) • Chediak-Higashi syndrome (sequence analysis analysis of DTNBP1 gene) • Disease exome-Trio by CGC Genetics • Bardet-Biedl syndrome 12 (sequence analysis of LYST gene) • Hermansky-Pudlak syndrome 8 (sequence of BBS12 gene) • CHIME syndrome (sequence analysis of PIGL • Doyne honeycomb retinal dystrophy (R345W analysis of BLOC1S3 gene) • Bardet-Biedl syndrome 15 (sequence analysis gene) mutation on EFEMP1 gene) • Hermansky-Pudlak syndrome type 3 of WDPCP gene) • Doyne honeycomb retinal dystrophy (sequence analysis of HPS3 gene) (sequence analysis of EFEMP1 gene) OPHTHALMOLOGY

• due to cystathionine beta- • Leber optic atrophy (sequence analysis of • Mitochondrial complex I deficiency • type 1 (deletion/duplication synthase deficiency (sequence analysis of MTCO3 gene) (sequence analysis of NDUFB3 gene) analysis on GPR143 gene) CBS gene) • Leber optic atrophy (sequence analysis of • Mitochondrial complex I deficiency • Ocular albinism type I (sequence analysis of • Hyperferritinemia with or without cataract MTND1 gene) (sequence analysis of NUBPL gene) GPR143 gene) (sequence analysis of the IRE region of the • Leber optic atrophy (sequence analysis of • Mitochondrial DNA depletion syndrome 2 • Ocular albinism type III (sequence analysis of FTL gene) MTND2 gene) (sequence analysis of TK2 gene) TYRP1 gene) • Hyperferritinemia-cataract syndrome • Leber optic atrophy (sequence analysis of • Mohr-Tranebjaerg syndrome (sequence • Ocular albinism type IV (OCA4, sequence (sequence analysis of FTL gene) MTND4 gene) analysis of TIMM8A gene) analysis of SLC45A2 gene) • Hypomyelination and • Leber optic atrophy (sequence analysis of • MOTA syndrome (sequence analysis of • Oculodentodigital dysplasia (sequence (sequence analysis of FAM126A gene) MTND4L gene) FREM1 gene) analysis of GJA1 gene) • Hypotrichosis simplex, type 8 (sequence • Leber optic atrophy (sequence analysis of • Mucolipidosis type IV (sequence analysis of • Oculopharyngeal muscular dystrophy (GCG analysis of LPAR6 gene) MTND5 gene) MCOLN1 gene) expansion on PABPN1 gene) • Hypotrichosis with juvenile macular • Leber optic atrophy (sequence analysis of • IVA (sequence • 1 (sequence analysis of SAG degeneration (deletion/duplication analysis MTND6 gene) analysis of GALNS gene) gene) of CDH3 gene) • Leber's Hereditary Optic Neuropathy (LHON, • Mucopolysaccharidosis IVB (sequence • Oguchi disease 2 (sequence analysis of GRK1 • IFAP syndrome (sequence analysis of MBTPS2 3 frequent mutations) analysis of GLB1 gene) gene) gene) • Legg-Calve-Perthes disease (sequence • Mucopolysaccharidosis type Ih (deletion/ • Optic atrophy 1 (deletion/duplication analysis • Jalili syndrome (sequence analysis of CNNM4 analysis of COL2A1 gene) duplication analysis of IDUA gene) on OPA1 gene) gene) • Leukodystrophy and leukoencephalopathy • Mucopolysaccharidosis type VI (Maroteaux- • Optic atrophy 10 with or without ataxia, • Joubert syndrome 3 (sequence analysis of (NGS panel for 90 genes) Lamy, sequence analysis of ARSB gene) mental retardation, and seizures (sequence AHI1 gene) • Lowe syndrome (sequence analysis of OCRL • Mulibrey nanism (sequence analysis of analysis of RTN4IP1 gene) • Joubert syndrome type 14 (JBTS14, sequence gene) TRIM37 gene) • Optic atrophy 3 (sequence analysis of OPA3 analysis of TMEM237 gene) • Lysosomal and peroxisomal diseases (NGS • Muscle-eye-brain disease (sequence analysis gene) • Joubert syndrome type 15 (JBTS15, sequence panel for 109 genes) of POMGNT1 gene) • Optic atrophy 7 (sequence analysis of analysis of CEP41 gene) • Macular dystrophy (sequence analysis of • Muscular dystrophy-dystroglycanopathy TMEM126A gene) • Joubert syndrome type 16 (JBTS16, sequence PRPH2 gene) (congenital with brain and eye anomalies), • Optic atrophy type 1 (sequence analysis of analysis of TMEM138 gene) • Macular dystrophy vitelliform (deletion/ type A, 6 (sequence analysis of LARGE gene) OPA1 gene) • Joubert syndrome type 20 (JBTS20, sequence duplication analysis on BEST1 and PRPH2 • Myasthenic syndrome, congenital (sequence • Optic nerve hypoplasia (deletion/duplication analysis of TMEM231 gene) genes) analysis of CHRNB1 gene) analysis on PAX6 gene) • Joubert syndrome type 5 (sequence analysis • Macular Dystrophy Vitelliform (sequence • Myopathy, mitochondrial progressive • Osteopetrosis autosomal recessive 8 of CEP290/NPHP6 gene) analysis of BEST1 and PRPH2 genes) with congenital cataract, hearing loss and (sequence analysis of SNX10 gene) • Joubert syndrome type 8 (JBTS8, sequence • Macular dystrophy vitelliform (sequence developmental delay (sequence analysis of • Osteoporosis - pseudoglioma (sequence analysis of ARL13B gene) analysis of BEST1 gene) GFER gene) analysis of LRP5 gene) • Joubert syndrome type 9 (sequence analysis • Macular dystrophy vitelliform 4 (sequence • type 2 (CCTG expansion • (deletion/duplication of CC2D2A gene) analysis of IMPG1 gene) on CNBP/ZNF9 gene) analysis on PAX2 gene) • Juvenile Paget disease (sequence analysis of • Marfan and Loeys-Dietz syndromes (NGS • Myotonic dystrophy type I (Steinert disease, • Papillorenal syndrome (sequence analysis of TNFRSF11B gene) panel for 3 genes) DM1, CTG expansion on DMPK gene) PAX2 gene) • Kearns-Sayre syndrome (KSS, 4977bp • Marfan and Loeys-Dietz syndromes and • Nance-Horan syndrome (sequence analysis • Paroxysmal extreme pain disorder (sequence deletion in mtDNA) aortic aneurysm (NGS panel for 10 genes) of NHS gene) analysis of SCN9A gene) • type 1 (sequence analysis of • Marfan syndrome (deletion/duplication • Nanophthalmia (sequence analysis of MFRP • Peroxisome biogenesis disorder 14B VSX1 gene) analysis on FBN1 gene) gene) (sequence analysis of PEX11B gene) • Knobloch syndrome type 1 (sequence • Marfan syndrome (sequence analysis of • 14 (sequence analysis of • Persistent hyperplastic primary vitreous, AR analysis of COL18A1 gene) FBN1 gene) ZNF423 gene) (sequence analysis of ATOH7 gene) • LADD syndrome (sequence analysis of FGF10 • Marfan syndrome type 2 (sequence analysis • Nephronophthisis 15 (sequence analysis of • Peters anomaly (sequence analysis of FOXC1 gene) of TGFBR1 and TGFBR2 genes) CEP164 gene) gene) • LCAT deficiency (sequence analysis of LCAT • Martsolf syndrome (sequence analysis of • Neurofibromatosis type 1 (sequence analysis • Peters anomaly (sequence analysis of PAX6 gene) RAB3GAP2 gene) of NF1 gene) gene) • Leber congenital amaurosis (deletion/ • 1, X-linked (sequence analysis • Neurofibromatosis type 2 (sequence analysis • Peters anomaly (sequence analysis of PITX2 duplication analysis on GUCY2D, RDH12, of CHRDL1 gene) of NF2 gene) gene) RPGRIP1 and CEP290 genes) • Microcephaly and chorioretinopathy with • Neurofibromatosis type I (deletion/ • Peters-plus syndrome (frequent mutations of • Leber congenital amaurosis (NGS panel for or without mental retardation (sequence duplication analysis on NF1 gene) B3GALTL gene) 20 genes) analysis of TUBGCP6 gene) • Neurofibromatosis type II (deletion/ • Peters-plus syndrome (sequence analysis of • Leber congenital amaurosis (sequence • Microcephaly with or without duplication analysis on NF2 gene) B3GALTL gene) analysis of LRAT gene) chorioretinopathy, lymphedema or mental • Neurofibromatosis types 1 and 2, Legius • Pharmacogenetics of antiangiogenics in • Leber congenital amaurosis (sequence retardation (sequence analysis of KIF11 gene) syndrome and schwannomatosis (NGS panel ophthalmology (detection of p.Y402H variant analysis of RPE65 gene) • Microcornea, myopic chorioretinal atrophy for 4 genes) in CFH gene) • Leber congenital amaurosis (sequence and telecanthus (sequence analysis of • Neuronal ceroid lipofuscinosis 2 (sequence • Pierson syndrome (sequence analysis of analysis of RPGRIP1 gene) ADAMTS18 gene) analysis of TPP1 gene) LAMB2 gene) • Leber congenital amaurosis 1 (sequence • Microphthalmia (deletion/duplication • Neuropathy, ataxia, and retinitis pigmentosa • Polymicrogyria with optic nerve hypoplasia analysis of GUCY2D gene) analysis of BCOR gene) (NARP, sequence analysis of MTATP6 gene) (sequence analysis of TUBA8 gene) • Leber congenital amaurosis 10 (LCA10, • Microphthalmia (NGS panel for 26 genes) • Night blindness, congenital stationar 1C, AR • Primary adult open-angle glaucoma sequence analysis of CEP290 gene) • Microphthalmia isolated 2 (sequence analysis (sequence analysis of TRPM1 gene) (sequence analysis of OPTN gene) • Leber congenital amaurosis 11 (sequence of VSX2 gene) • Night blindness, congenital stationary (NGS • Primary open angle glaucoma (sequence analysis of IMPDH1 gene) • Microphthalmia isolated 3 (sequence analysis panel for 13 genes) analysis of MYOC gene) • Leber congenital amaurosis 12 (LCA12, of RAX gene) • Night blindness, congenital stationary 1A, • Progressive external ophthalmoplegia - sequence analysis of RD3 gene) • Microphthalmia isolated 8 (sequence analysis X-linked (sequence analysis of NYX gene) scoliosis (sequence analysis of ROBO3 gene) • Leber congenital amaurosis 13 (sequence of ALDH1A3 gene) • Night blindness, congenital stationary 1B, AR • Progressive external ophthalmoplegia (CPEO, analysis of RDH12 gene) • Microphthalmia syndromic 3 (deletion/ (sequence analysis of GRM6 gene) 4977bp deletion in mtDNA) • Leber congenital amaurosis 16 (LCA16, duplication analysis on SOX2 gene) • Night blindness, congenital stationary 1E, AR • Progressive external ophthalmoplegia sequence analysis of KCNJ13 gene) • Microphthalmia syndromic 6 (sequence (sequence analysis of GPR179 gene) (deletions / duplications in the POLG, POLG2, • Leber congenital amaurosis 3 (LCA3, analysis of BMP4 gene) • Night blindness, congenital stationary 2, AD SLC25A4 and TWNK genes) sequence analysis of SPATA7 gene) • Microphthalmia syndromic 7 (sequence (sequence analysis of PDE6B gene) • Progressive external ophthalmoplegia (NGS • Leber congenital amaurosis 5 (LCA5, analysis of HCCS gene) • Night blindness, congenital stationary 2B, AR panel of 12 genes) sequence analysis of LCA5 gene) • Microphthalmia syndromic 9 (sequence (sequence analysis of CABP4 gene) • Progressive external ophthalmoplegia • Leber congenital amaurosis 7 (sequence analysis of STRA6 gene) • Night blindness, congenital stationary 3, AD (sequence analysis of POLG gene) analysis of CRX gene) • Microphthalmia, Lenz type (sequence (sequence analysis of GNAT1 gene) • Progressive external ophthalmoplegia with • Leber congenital amaurosis 9 (LCA9, analysis of BCOR gene) • (deletion/duplication analysis mitochondrial deletions type 5 (sequence sequence analysis of NMNAT1 gene) • Microphthalmia, syndromic 3 (sequence on NDP gene) analysis of RRM2B gene) • Leber congenital amaurosis type 8 (sequence analysis of SOX2 gene) • Norrie disease (sequence analysis of NDP • Prosaposin deficiency (sequence analysis of analysis of CRB1 gene) • Microphthalmia, syndromic type 1 (deletion/ gene) PSAP gene) • Leber congenital neuropathy (sequence duplication analysis of NAA10 gene) • 1, congenital idiopathic (sequence • Pseudoxanthoma elasticum (deletion/ analysis of MTCYB gene) • Microphthalmia, syndromic type 1 (sequence analysis of FRMD7 gene) duplication analysis on ABCC6 gene) • Leber optic atrophy (sequence analysis of analysis of NAA10 gene) • Occult macular dystrophy (sequence analysis • Pseudoxanthoma elasticum (sequence MTCO1 gene) • Microvascular complications of diabetes 1 of RP1L1 gene) analysis of ABCC6 gene) (sequence analysis of VEGFA gene) OPHTHALMOLOGY

• Pseudoxanthoma elasticum (sequence • Retinitis pigmentosa 36 (sequence analysis • Retinitis pigmentosa, AD and X-linked (NGS • Stickler syndrome type 2 (sequence analysis analysis of exons 24 and 28 of ABCC6 gene) of PRCD gene) panel for 27 genes) of COL11A1 gene) • Recessives (deletion/duplication • Retinitis pigmentosa 38 (deletion/duplication • Retinitis pigmentosa, AR and X-linked (NGS • Stickler syndrome type 3 (sequence analysis analysis on SETX, APTX and FXN genes) analysis of MERTK gene) panel for 53 genes) of COL11A2 gene) • Refsum disease (sequence analysis of PEX7 • Retinitis pigmentosa 38 (sequence analysis of • Retinitis pigmentosa, juvenile (sequence • Stickler syndrome type IV (sequence analysis gene) MERTK gene) analysis of AIPL1 gene) of COL9A1 gene) • Retinal cone dystrophy 4 (sequence analysis • Retinitis pigmentosa 4 (sequence analysis of • Retinitis punctata albescens (sequence • Stickler syndrome type V (sequence analysis of CACNA2D4 gene) RHO gene) analysis of PRPH2 gene) of COL9A2 gene) • Retinal cone dystrophy type 3B (sequence • Retinitis pigmentosa 40 (sequence analysis of • Retinitis punctata albescens (sequence • Sturge-Weber syndrome (mutation analysis of KCNV2 gene) PDE6B gene) analysis of RDH5 gene) p.Arg183Gln on GNAQ gene) • Retinal degeneration late-onset, AD • Retinitis pigmentosa 42 (sequence analysis of • Retinoblastoma (deletion/duplication • Syndromic microphthalmia type 5 (sequence (sequence analysis of C1QTNF5 gene) KLHL7 gene) analysis on on RB1 gene) analysis of OTX2 gene) • Retinitis pigmentosa (delection/duplication • Retinitis pigmentosa 43 (sequence analysis of • Retinoblastoma (methylation and deletion/ • Tangier disease (sequence analysis of ABCA1 analysis on BEST1 and PRPH2 genes) PDE6A gene) duplication analysis on RB1 gene) gene) • Retinitis pigmentosa (delection/duplication • Retinitis pigmentosa 44 (sequence analysis • Retinoblastoma (sequence analysis of RB1 • Temtamy syndrome (sequence analysis of analysis on RHO, PRPF31, RP1 and IMPDH1 of RGR gene) gene) C12ORF57 gene) genes) • Retinitis pigmentosa 45 (sequence analysis of • of prematurity (sequence • Usher syndrome (NGS panel for 12 genes) • Retinitis pigmentosa (NGS panel for 72 genes) CNGB1 gene) analysis of FZD4 gene) • Usher syndrome type 1D/F (deletion/ • Retinitis pigmentosa (p.R283 mutation on • Retinitis pigmentosa 46 (sequence analysis of • (sequence analysis of RS1 gene) duplication analysis on PCDH15 gene) CERKL gene) IDH3B gene) • Riley-Day syndrome (sequence analysis of • Usher syndrome type 1D/F (sequence • Retinitis pigmentosa 1, AD (sequence analysis • Retinitis pigmentosa 47 (deletions/ IKBKAP gene) analysis of CDH23 gene) of RP1 gene) duplications analysis of SAG gene) • Senior-Loken syndrome (NGS panel for 5 • Usher syndrome type 1D/F (sequence • Retinitis pigmentosa 10 (sequence analysis of • Retinitis pigmentosa 48 (sequence analysis of genes) analysis of PCDH15 gene) IMPDH1 gene) GUCA1B gene) • Senior-Loken syndrome 4 (sequence analysis • Usher syndrome type 1G (sequence analysis • Retinitis pigmentosa 11 (sequence analysis of • Retinitis pigmentosa 49 (sequence analysis of of NPHP4 gene) of USH1G gene) PRPF31 gene) CNGA1 gene) • Senior-Loken syndrome 5 (sequence analysis • Usher syndrome type 2A (deletion/ • Retinitis pigmentosa 12 (sequence analysis • Retinitis pigmentosa 50 (sequence analysis of of IQCB1 gene) duplication analysis on USH2A gene) of CRB1 gene) BEST1 gene) • Senior-Loken syndrome 7 (sequence analysis • Usher syndrome type 2A (sequence analysis • Retinitis pigmentosa 13, AD (sequence • Retinitis pigmentosa 51 (sequence analysis of SDCCAG8 gene) of USH2A gene) analysis of PRPF8 gene) of TTC8 gene) • Septooptic dysplasia (deletion/duplication • Usher syndrome type 3A (sequence analysis • Retinitis pigmentosa 14, AR (sequence • Retinitis pigmentosa 54 (sequence analysis of analysis on HESX1 gene) of CLRN1 gene) C2ORF71 gene) analysis of TULP1 gene) • Septooptic dysplasia (NGS panel for 17 genes) • Usher syndrome type 3B (sequence analysis Retinitis pigmentosa 17 (sequence analysis • Retinitis pigmentosa 55 (sequence analysis of HARS gene) • • Septooptic dysplasia (sequence analysis of of ARL6 gene) of CA4 gene) HESX1 gene) • Usher syndrome type IJ (sequence analysis Retinitis pigmentosa 18, AD (sequence • Retinitis pigmentosa 56 (sequence analysis of of CIB2 gene) • • SHORT syndrome (sequence analysis of IMPG2 gene) analysis of PRPF3 gene) PIK3R1 gene) • Van Buchem disease (sequence analysis of Retinitis pigmentosa 19 (deletion/duplication • Retinitis pigmentosa 57 (sequence analysis of SOST gene) • • Sorsby fundus dystrophy (sequence analysis PDE6G gene) analysis on ABCA4 gene) of TIMP3 gene) • Wagner syndrome (sequence analysis of Retinitis pigmentosa 2, X-linked (sequence • Retinitis pigmentosa 58 (sequence analysis of VCAN gene) • • 7 (SCA7, CAG ZNF513 gene) analysis of RP2 gene) expansion on ATXN7 gene) • WAGR syndrome (deletion/duplication Retinitis pigmentosa 25, AR (delection/ • Retinitis pigmentosa 59 (sequence analysis of analysis on WT1 gene) • • Spondyloepiphyseal dysplasia congenita DHDDS gene) duplication analysis on EYS gene) (sequence analysis of COL2A1 gene) • Walker-Warburg syndrome (sequence Retinitis pigmentosa 25, AR (sequence • Retinitis pigmentosa 60 (sequence analysis of analysis of ISPD gene) • • Stargardt disease 4 (sequence analysis of PRPF6 gene) analysis of EYS gene) PROM1 gene) • Warburg micro syndrome 3 (sequence Retinitis pigmentosa 26 (sequence analysis of • Retinitis pigmentosa 61 (sequence analysis of analysis of RAB18 gene) • • Stargardt disease and macular dystrophy CLRN1 gene) CERKL gene) (NGS panel for 14 genes) • Warburg micro syndrome type 1 (sequence Retinitis pigmentosa 27 (sequence analysis • Retinitis pigmentosa 62 (sequence analysis analysis of RAB3GAP1 gene) • • Stargardt disease type 1 (deletion/duplication of MAK gene) of NRL gene) analysis on ABCA4 gene) • Weill-Marchesani syndrome (sequence Retinitis pigmentosa 28 (sequence analysis of • Retinitis pigmentosa 64 (sequence analysis of analysis of ADAMTS10 gene) • • Stargardt disease type 1 (sequence analysis C8ORF37 gene) FAM161A gene) of ABCA4 gene) • Werner syndrome (sequence analysis of Retinitis pigmentosa 3 (sequence analysis of • Retinitis pigmentosa 66 (sequence analysis WRN gene) • • Stargardt disease type 3 (sequence analysis of RBP3 gene) RPGR gene) of ELOVL4 gene) • Wolfram syndrome (sequence analysis of Retinitis pigmentosa 30 (sequence analysis of • Retinitis pigmentosa 7 (sequence analysis of WFS1 gene) • • Stickler syndrome (NGS panel for 6 genes) FSCN2 gene) ROM1 gene) • Wolfram syndrome type 2 (sequence analysis • Stickler syndrome (sequence analysis of Retinitis pigmentosa 31 (sequence analysis of • Retinitis pigmentosa 9 (sequence analysis of of CISD2 gene) • COL2A1 gene) TOPORS gene) RP9 gene) • Stickler syndrome type 1 (deletion/ Retinitis pigmentosa 33 (sequence analysis of • Retinitis pigmentosa tipe 7 (sequence • duplication analysis on COL2A1 gene) SNRNP200 gene) analysis of PRPH2 gene) • Stickler syndrome type 2 (deletion/ Retinitis pigmentosa 35 (sequence analysis of • Retinitis pigmentosa type 37 (sequence • duplication analysis on COL11A1 gene) SEMA4A gene) analysis of NR2E3 gene)

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