Juvenile Macular Degenerations

Hendrickson, 1984, The morphological development of the human fovea, Ophthalmology, 91, 603, 10.1016/S0161-6420(84)34247-6 Lee, 2015, In vivo foveal development using optical coherence tomography, Invest Ophthalmol Vis Sci, 56, 4537, 10.1167/iovs.15-16542 Yuodelis, 1986, A qualitative and quantitative analysis of the human fovea during development, Vision Res, 26, 847, 10.1016/0042-6989(86)90143-4 Hendrickson, 1992, The development of parafoveal and mid-peripheral human retina, Behav Brain Res, 49, 21, 10.1016/S0166-4328(05)80191-3 Hendrickson, 2012, Histologic development of the human fovea from midgestation to maturity, Am J Ophthalmol, 154, 767, 10.1016/j.ajo.2012.05.007 Vajzovic, 2012, Maturation of the human fovea: Correlation of spectral-domain optical coherence tomography findings with histology, Am J Ophthalmol, 154, 779, 10.1016/j.ajo.2012.05.004 Cox, 2010, Albinism, 461 Thomas, 2011, Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?, Ophthalmology, 118, 1653, 10.1016/j.ophtha.2011.01.028 Tsina, 2005, Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria, Arch Ophthalmol, 123, 1143, 10.1001/archopht.123.8.1143 Dharmaraj, 2004, The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations, Arch Ophthalmol, 122, 1029, 10.1001/archopht.122.7.1029 Kousal, 2016, Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants, Graefes Arch Clin Exp Ophthalmol, 254, 1833, 10.1007/s00417-016-3358-2 Perrault, 2012, Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy, Nat Genet, 44, 975, 10.1038/ng.2357 Rosenberg, 2010, Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy, Mol Vis, 16, 2659 Jack, 2015, Segmentation of retinal layers in Sjogren-Larsson syndrome, Ophthalmology, 122, 1730, 10.1016/j.ophtha.2015.02.003 Makino, 2012, Optical coherence tomography and fundus autofluorescence imaging study of chorioretinal atrophy involving the macula in Alagille syndrome, Clin Ophthalmol, 6, 1445, 10.2147/OPTH.S36146 Preising, 2016, Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life, Ophthalmic Genet, 1 Krill, 1972, The various categories of juvenile macular degeneration, Trans Am Ophthalmol Soc, 70, 220 North, 2014, Juvenile-onset macular degeneration and allied disorders, Dev Ophthalmol, 53, 44, 10.1159/000357293 1988 Allikmets, 1997, A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy, Nat Genet, 15, 236, 10.1038/ng0397-236 Cideciyan, 2004, Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence, Hum Mol Genet, 13, 525, 10.1093/hmg/ddh048 Song, 2015, Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy, JAMA Ophthalmol, 133, 1198, 10.1001/jamaophthalmol.2015.2443 Allikmets, 1998, Organization of the ABCR gene: Analysis of promoter and splice junction sequences, Gene, 215, 111 Zernant, 2014, Analysis of the ABCA4 genomic locus in Stargardt disease, Hum Mol Genet, 23, 6797, 10.1093/hmg/ddu396 Michaelides, 2010, The PROM1 mutation p.R373C causes an autosomal dominant bull׳s eye maculopathy associated with rod, rod-cone, and macular dystrophy, Invest Ophthalmol Vis Sci, 51, 4771, 10.1167/iovs.09-4561 Karan, 2005, Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: A model for macular degeneration, Proc Natl Acad Sci U S A, 102, 4164, 10.1073/pnas.0407698102 Fujinami, 2015, Clinical and molecular characteristics of childhood-onset Stargardt disease, Ophthalmology, 122, 326, 10.1016/j.ophtha.2014.08.012 Lambertus, 2015, Early-onset stargardt disease: Phenotypic and genotypic characteristics, Ophthalmology, 122, 335, 10.1016/j.ophtha.2014.08.032 Fujinami, 2013, Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function, Am J Ophthalmol, 156, 487, 10.1016/j.ajo.2013.05.003 Rotenstreich, 2003, Visual acuity loss and clinical observations in a large series of patients with Stargardt disease, Ophthalmology, 110, 1151, 10.1016/S0161-6420(03)00333-6 van Huet, 2014, Foveal sparing in Stargardt disease, Invest Ophthalmol Vis Sci, 55, 7467, 10.1167/iovs.13-13825 Cukras, 2012, Fundus autofluorescence patterns in stargardt disease over time, Arch Ophthalmol, 130, 1354, 10.1001/archophthalmol.2012.2008 Vandenbroucke, 2015, Colour vision in Stargardt disease, Ophthalmic Res, 54, 181, 10.1159/000438906 Bernstein, 2016, Mapping the dense scotoma and its enlargement in Stargardt disease, Retina, 36, 1741, 10.1097/IAE.0000000000001003 Fishman, 1987, Visual acuity loss in patients with Stargardt׳s macular dystrophy, Ophthalmology, 94, 809, 10.1016/S0161-6420(87)33533-X Lee, 2014, The external limiting membrane in early-onset Stargardt disease, Invest Ophthalmol Vis Sci, 55, 6139, 10.1167/iovs.14-15126 Cideciyan, 2015, Predicting progression of ABCA4-associated retinal degenerations based on longitudinal measurements of the leading disease front, Invest Ophthalmol Vis Sci, 56, 5946, 10.1167/iovs.15-17698 Fujinami, 2013, A longitudinal study of Stargardt disease: Quantitative assessment of fundus autofluorescence, progression, and genotype correlations, Invest Ophthalmol Vis Sci, 54, 8181, 10.1167/iovs.13-12104 Fujinami, 2013, A longitudinal study of stargardt disease: Clinical and electrophysiologic assessment, progression, and genotype correlations, Am J Ophthalmol, 155, 1075, 10.1016/j.ajo.2013.01.018 Lois, 2001, Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus, Arch Ophthalmol, 119, 359, 10.1001/archopht.119.3.359 Zahid, 2013, Clinical phenotypes and prognostic full-field electroretinographic findings in Stargardt disease, Am J Ophthalmol, 155, 465, 10.1016/j.ajo.2012.09.011 Teussink, 2015, The effect of light deprivation in patients with Stargardt disease, Am J Ophthalmol, 159, 964, 10.1016/j.ajo.2015.02.004 Charbel Issa, 2015, Rescue of the Stargardt phenotype in Abca4 knockout mice through inhibition of vitamin A dimerization, Proc Natl Acad Sci U S A, 112, 8415, 10.1073/pnas.1506960112 Lu, 2017, Novel therapeutics for Stargardt disease, Graefes Arch Clin Exp Ophthalmol, 255, 1057, 10.1007/s00417-017-3619-8 Radu, 2005, Reductions in serum vitamin A arrest accumulation of toxic retinal fluorophores: A potential therapy for treatment of lipofuscin-based retinal diseases, Invest Ophthalmol Vis Sci, 46, 4393, 10.1167/iovs.05-0820 Radu, 2003, Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt׳s macular degeneration, Proc Natl Acad Sci U S A, 100, 4742, 10.1073/pnas.0737855100 Schwartz, 2015, Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt׳s macular dystrophy: Follow-up of two open-label phase 1/2 studies, Lancet, 385, 509, 10.1016/S0140-6736(14)61376-3 George, 1995, X linked retinoschisis, Br J Ophthalmol, 79, 697, 10.1136/bjo.79.7.697 Wu, 2005, RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer, J Biol Chem, 280, 10721, 10.1074/jbc.M413117200 Molday, 2001, Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells, Invest Ophthalmol Vis Sci, 42, 816 Ou, 2015, Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer, J Clin Invest, 125, 2891, 10.1172/JCI81380 Sergeev, 2013, Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes, Hum Mol Genet, 22, 4756, 10.1093/hmg/ddt329 Gerth, 2008, Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography, Arch Ophthalmol, 126, 807, 10.1001/archopht.126.6.807 Eksandh, 2000, Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene, Arch Ophthalmol, 118, 1098, 10.1001/archopht.118.8.1098 Kellner, 1990, X-linked congenital retinoschisis, Graefes Arch Clin Exp Ophthalmol, 228, 432, 10.1007/BF00927256 Akeo, 2015, Detailed morphological changes of foveoschisis in patient with X-linked retinoschisis detected by SD-OCT and adaptive optics fundus camera, Case Rep Ophthalmol Med, 2015, 432782 Hu, 2017, X-linked retinoschisis in juveniles: Follow-up by optical coherence tomography, Biomed Res Int, 2017, 1704623, 10.1155/2017/1704623 Wang, 2015, Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing, Mol Vis, 21, 487 Yang, 2014, Correlation between spectral-domain OCT findings and visual acuity in X-linked retinoschisis, Invest Ophthalmol Vis Sci, 55, 3029, 10.1167/iovs.14-13955 Andreoli, 2014, Optical coherence tomography retinal thickness and volume measurements in X-linked retinoschisis, Am J Ophthalmol, 158, 567, 10.1016/j.ajo.2014.05.028 George, 1996, Clinical features in affected males with X-linked retinoschisis, Arch Ophthalmol, 114, 274, 10.1001/archopht.1996.01100130270007 Jeffrey, 2014, Test-retest intervisit variability of functional and structural parameters in X-linked retinoschisis, Transl Vis Sci Technol, 3, 5, 10.1167/tvst.3.5.5 Weber, 2002, Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure, Proc Natl Acad Sci U S A, 99, 6222, 10.1073/pnas.092528599 Khan, 2001, Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis, Vision Res, 41, 3931, 10.1016/S0042-6989(01)00188-2 Byrne, 2014, Retinoschisin gene therapy in photoreceptors, Muller glia or all retinal cells in the Rs1h-/- mouse, Gene Ther, 21, 585, 10.1038/gt.2014.31 Janssen, 2008, Effect of late-stage therapy on disease progression in AAV-mediated rescue of photoreceptor cells in the retinoschisin-deficient mouse, Mol Ther, 16, 1010, 10.1038/mt.2008.57 Kjellstrom, 2007, Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: Long-term rescue from retinal degeneration, Invest Ophthalmol Vis Sci, 48, 3837, 10.1167/iovs.07-0203 Takada, 2008, Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery, Invest Ophthalmol Vis Sci, 49, 3677, 10.1167/iovs.07-1071 Apushkin, 2006, Use of dorzolamide for patients with X-linked retinoschisis, Retina, 26, 741, 10.1097/01.iae.0000237081.80600.51 Tawil, 2000, Randomized trials of dichlorphenamide in the periodic paralyses. Working group on periodic paralysis, Ann Neurol, 47, 46, 10.1002/1531-8249(200001)47:1<46::AID-ANA9>3.0.CO;2-H Johnson, 2017, Bestrophin 1 and retinal disease, Prog Retin Eye Res, 58, 45, 10.1016/j.preteyeres.2017.01.006 Petrukhin, 1998, Identification of the gene responsible for Best macular dystrophy, Nat Genet, 19, 241, 10.1038/915 Marmorstein, 2000, Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium, Proc Natl Acad Sci U S A, 97, 12758, 10.1073/pnas.220402097 Boon, 2009, The spectrum of ocular phenotypes caused by mutations in the BEST1 gene, Prog Retin Eye Res, 28, 187, 10.1016/j.preteyeres.2009.04.002 Arora, 2016, Unilateral BEST1-associated retinopathy, Am J Ophthalmol, 169, 24, 10.1016/j.ajo.2016.05.024 Booij, 2010, Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy, Ophthalmology, 117, 1415, 10.1016/j.ophtha.2009.11.044 Agarwal, 2012 Boon, 2009, Clinical and molecular genetic analysis of Best vitelliform macular dystrophy, Retina, 29, 835, 10.1097/IAE.0b013e31819d4fda Querques, 2008, High-definition optical coherence tomography features in vitelliform macular dystrophy, Am J Ophthalmol, 146, 501, 10.1016/j.ajo.2008.05.029 Parodi, 2014, Fundus autofluorescence patterns in Best vitelliform macular dystrophy, Am J Ophthalmol, 158, 1086, 10.1016/j.ajo.2014.07.026 Testa, 2008, A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene, Br J Ophthalmol, 92, 1467, 10.1136/bjo.2008.143776 Ruiz-Moreno, 2012, Long-term outcomes of intravitreal ranibizumab for choroidal neovascularization secondary to Best׳s disease: 3-Year follow-up, Acta Ophthalmol, 90, e574, 10.1111/j.1755-3768.2011.02363.x