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21310915,22570351,23946133,20811047,20104588,17962469,23499059,26147992,22531706,21558291,20702822,28253385,27422788,20130272,12552256,22065924,31630094,18055816,10937591,30870047,24752437,21220633,24997176,9326941,25113443,25814828,18055820,22219627,20881296,24001014,22182799,24771178,11095629,26464178,26957854,22559933,25148430,28355663,18055821,24702842,28966547,27203561,16123401,18235024,20956273,24144451,20300561,20056295,22199244,28689169,31878136,16505055,20537394,23505306,27116508,23449718,27475985,31908400,27386845,20484585,29398085,28513254,25495949,29193673,15288992,32865313,22039234,27113771,31884617,32083505,22412862,24093488,11062306,20683928,30134391,25293953,26316326,25611614,26906952,15024725,17011878,26165328,10711674,26872607,20220053,29844330,24547928,22509104,25079116,33308271,25091951,20736127,33670832,28212877,25766589,31704230,27880076,23424971,27383656,32799588,26061163,25270190,32856788,30979730,31734136,23362850,25475713,22355252,32565670,25766588,35314386,21900377,24199935,28369829,25383945,28752371,26757501,25574057,28471114,31273949,25429852,29178642,16546111,27375279,33838313,23443024,36469661,23806424,35101627,10873396,31618092,33512896,25445212,30324420,25988908,23638917,24945461,24940029,36426739,20696998,26720460,33970760,24535598,36369640,28785766,26854980,26047050,17525851,35026968,21421862,33926102,29068479,20604683,31957135,26427408,33712480,19825837,31212307,31342828,21901789,29062221,30573563,17512964,17964524,28510626,31626798,23590195,33579689,24625443,26968735,29193763,22842227,21850168,34289237,31387115,23308101,27307694,31647904,25965394,21153841,25096270,36099972,27623334,28819299,26539796,15322982,37107710,23847139,26350383,21838212,27474146,31639339,21474771,31129250,31836589,30004997,23662838,36004591,27102010,23661368,22842231,19268277,30578499,22065545,19956411,25926518,23307924,32641690,34440435,30025081,25775262,21763485,25074776,23351689,20065226,26359340,30924391,34157943,28035529,22219648,23278760,26294103,34492281,31470097,27686653,28453600,34470921,23379534,33712029,36950921,34196655,11910559,23619632,22261762,36595661,25323024,33686777,24265693,21602930,20811058,23663011,32255808,18000884,24767827,31103025,33670772,36225124,30268864,35477418,29186038,23208805,35569774,25060287,25398945,25082885,28704108,23878505,31264916,29204067,17651254,29414951,22378290,31567747,26216056,34464742,33599192,19503738,26626312,23374571,24830548,34905022,29534263,11231775,30726412,24698627,28481129,30576320,29568065,22842229,16643894,28586915,30374144,30054723,24444108,28356705,23356391,22033465,34809537,25414380,25537204,24026677,20212206,32533184,28127548,28403437,21149784,35128149,25921210,20006823,25987160,30242358,29367200,35001204,29893966,22842230,30090012,31009524,25587058,11449318,25133751,28177849,32036094,23134348,26427456,24516651,26820066,26394700,24223178,24664696,31889465,33938912,29721952,27150101,23189188,29450543,22398208,30718907,26691045,31725702,27010695,25122145,18154657,12642313,30731125,32032626,24674142,27645772,33668384,25983245,16034607,32579692,25596619,20706282,36830640,35616092,33277529,25936984,27160245,21959080,27160483,22137173,33784790,26010121,24391367,28192794,31864384,33173045,25685757,24126856,26018082,28355658,32036247,29548835,25189253,31505163,32507954,33624564,30285347,23749988,27207593,32967644,25864795,30150358,26097748,33290291,37127645,27389523,33529788,25389874,32172635,30664785,25910913,26560832,28635423,23864591,33595255,29184169,9623260,28685406,37008293,34243968,36672611,26747767,28838317,28393863,23325614,28147405,36074935,30019980,29053603,17035272,35368022,31056263,28272537,31875109,32072079,35057699,35240325,34796026,22183350,24963760,29198720,24103338,33640901,31739639,26350250,27058594,35760216,22913475,30578525,33755199,31844802,25413954,23344081,19788668,27788217,28341476,36654798,29659094,34158306,30054919,31884613,23662791,30425282,27116498,26056285,25574898,30967659,34013643,30850196,36912596,26214332,22025579,25856303,22991300,35457050,26390089,33782391,23687434,23105016,7160632,22183352,36937198,15580639,31884591,25105227,32432520,33452791,33374679,35875935,27011029,35016144,25325857,35491887,30259088,34016806,28650875,33784789,31429209,31695380,32855876,22892517,22350546,29568000,26259030,22688943,7747574,25936606,31138590,34524141,27193220,739340,30578524,25629076,26058181,23740962,30488743,24327302,36243009,1374226,1203237,23403902,31191208,27628848,21862672,23088368,34218953,27157150,34171904,36646578,13382784,25030841,29400301,13452382,10927016,28704110,34715016,5304849,29579643,28471455,18169429[uid]

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Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT. Mackay DS, et al. Invest Ophthalmol Vis Sci. 2011 May 9;52(6):3032-8. doi: 10.1167/iovs.10-7025. Invest Ophthalmol Vis Sci. 2011. PMID: 21310915

Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.

Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT. Dev Borman A, et al. Invest Ophthalmol Vis Sci. 2012 Jun 22;53(7):3927-38. doi: 10.1167/iovs.12-9548. Invest Ophthalmol Vis Sci. 2012. PMID: 22570351

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK; [LCA5 Study Group (see acknowledgements for Universities); Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B. Mackay DS, et al. Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Epub 2013 Sep 17. Hum Mutat. 2013. PMID: 23946133 Free PMC article.

The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.

Weleber RG, Michaelides M, Trzupek KM, Stover NB, Stone EM. Weleber RG, et al. Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):292-302. doi: 10.1167/iovs.10-6106. Invest Ophthalmol Vis Sci. 2011. PMID: 20811047

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Perrault I, Hanein S, Gerard X, Delphin N, Fares-Taie L, Gerber S, Pelletier V, Mercé E, Dollfus H, Puech B, Defoort-Dhellemmes S, Petersen MD, Zafeiriou D, Munnich A, Kaplan J, Roche O, Rozet JM. Perrault I, et al. Hum Mutat. 2010 Mar;31(3):E1241-50. doi: 10.1002/humu.21203. Hum Mutat. 2010. PMID: 20104588

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL. Mataftsi A, et al. Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5160-7. doi: 10.1167/iovs.06-1013. Invest Ophthalmol Vis Sci. 2007. PMID: 17962469

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI. Roosing S, et al. Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. Epub 2013 Mar 15. Ophthalmology. 2013. PMID: 23499059

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.

Srilekha S, Arokiasamy T, Srikrupa NN, Umashankar V, Meenakshi S, Sen P, Kapur S, Soumittra N. Srilekha S, et al. PLoS One. 2015 Jul 6;10(7):e0131679. doi: 10.1371/journal.pone.0131679. eCollection 2015. PLoS One. 2015. PMID: 26147992 Free PMC article.

Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.

Preising MN, Hausotter-Will N, Solbach MC, Friedburg C, Rüschendorf F, Lorenz B. Preising MN, et al. Invest Ophthalmol Vis Sci. 2012 Jun 8;53(7):3463-72. doi: 10.1167/iovs.12-9519. Invest Ophthalmol Vis Sci. 2012. PMID: 22531706 Free PMC article.

High-resolution optical coherence tomography imaging in KCNV2 retinopathy.

Sergouniotis PI, Holder GE, Robson AG, Michaelides M, Webster AR, Moore AT. Sergouniotis PI, et al. Br J Ophthalmol. 2012 Feb;96(2):213-7. doi: 10.1136/bjo.2011.203638. Epub 2011 May 10. Br J Ophthalmol. 2012. PMID: 21558291

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