Disease #05684 (neuropathy, optic (neuropathy, optic))

Official abbreviation neuropathy, optic
Name neuropathy, optic
OMIM ID -
Inheritance -
Individuals reported having this disease 303
Phenotype entries for this disease 288
Associated with 8 genes ACO2, DNM1L, MFN2, NR2F1, OPA1, RTN4IP1, SPG7, SSBP1
Associated tissues -
Disease features -
Remarks -
Date created 2020-01-10 11:57:41 +01:00 (CET)
Date last edited 2021-02-19 09:59:43 +01:00 (CET)


Individuals

303 entries on 4 pages. Showing entries 1 - 100.
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00065277 Family I, II-3 PubMed: Angebault 2015 PubMed: Meunier 2020 Patient II-3 from Family I: 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Morocco - >45y - - - neuropathy, optic Moderately reduced visual acuity (HP:0030515); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Central scotoma (HP:0000603); Cerulean cataract (HP:0007976); Abnormal flash visual evoked potentials (HP:0007928); Rod-cone dystrophy (HP:0000510); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843) RTN4IP1 RTN4IP1 1 2 Pieter Klap
00065278 Family I, II-4 PubMed: Angebault 2015 Brother of Patient II4 M yes Morocco - >52y - - - neuropathy, optic Severely reduced visual acuity (HP:0001141); Photophobia (HP:0000613); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) RTN4IP1 RTN4IP1 1 1 Pieter Klap
00065279 Family II, II-1 PubMed: Angebault 2015 Patient II-1 from Family II: 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes France Romani >25y - - - neuropathy, optic Moderately reduced visual acuity (HP:0030515); Photophobia (HP:0000613); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Centrocecal scotoma (HP:0000576) RTN4IP1 RTN4IP1 1 1 Pieter Klap
00065280 Family III, II-5 (2015) / Family 2, II-5 (2020) PubMed: Angebault 2015 PubMed: Meunier 2020 Patient named as Family III, II-5 in article by Angebault et al. (2015), and as Family 2, II-5 in article by Meunier et al. (2020): 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes France Romani >23y - - - neuropathy, optic Moderately reduced visual acuity (HP:0030515); Nyctalopia (HP:0000662); Rod-cone dystrophy (HP:0000510); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Red-green dyschromatopsia (HP:0000642); Ring scotoma (HP:0030529); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843); Abnormal amplitude of light-adapted flicker electroretinogram (HP:0030479); Abnormal timing of light-adapted flicker electroretinogram (HP:0030480) RTN4IP1 RTN4IP1 1 1 Pieter Klap
00065281 Family IV, II-2 (2015) / Family 4, II-2 (2020) PubMed: Angebault 2015 PubMed: Meunier 2020 Patient named as Family IV, II-2 in article by Angebault et al. (2015), and as Family 4, II-2 in article by Meunier et al. (2020): 2-generation family, 2 sisters, unaffected heterozygous carrier parents F no - - >14y - - - neuropathy, optic Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Photophobia (HP:0000613); Red-green dyschromatopsia (HP:0000642); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Undetectable visual evoked potentials (HP:0007965); Rod-cone dystrophy (HP:0000510); Abnormal light- and dark-adapted electroretinogram (HP:0008323); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843); Hypoplasia of the optic tract (HP:0007096); Ataxia (HP:0001251); Intellectual disability (HP:0001249); Generalized myoclonic seizure (HP:0002123) RTN4IP1 RTN4IP1 2 2 Pieter Klap
00065282 Family IV, II-3 (2015) / Family 4, II-3 (2020) PubMed: Angebault 2015 PubMed: Meunier 2020 Patient named as Family IV, II-3 in article by Angebault et al. (2015), and as Family 4, II-3 in article by Meunier et al. (2020) F no - - >12y - - - neuropathy, optic Severely reduced visual acuity (HP:0001141); Nystagmus (HP:0000639); Nyctalopia (HP:0000662); Photophobia (HP:0000613); Red-green dyschromatopsia (HP:0000642); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Undetectable visual evoked potentials (HP:0007965); Hypoplasia of the optic tract (HP:0007096); Rod-cone dystrophy (HP:0000510); Abnormal light- and dark-adapted electroretinogram (HP:0008323); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843); Ataxia (HP:0001251); Intellectual disability (HP:0001249) RTN4IP1 RTN4IP1 2 1 Pieter Klap
00225645 Sibling 1 PubMed: Kelman 2018 3-generation family, 1 carrier, 2 affected M no - - - - - - neuropathy, optic, OPA, blindness Blindness (HP:0000618); Optic atrophy (HP:0000648); Horizontal nystagmus (HP:0000666); Asthma(HP:0002099); Optic disc pallor (HP:0000543); Abnormality of color vision (HP:0000551); Cystic spaces in the inner nuclear layer in OCT ACO2 ACO2 2 1 Thomas Foulonneau
00225646 Sibling 2 PubMed: Kelman 2018 3-generation family, 1 carrier, 2 affected M no - - - - - - neuropathy, optic, OPA, blindness Blindness (HP:0000618); Optic atrophy (HP:0000648); Horizontal nystagmus (HP:0000666); Asthma (HP:0002099); Optic disc pallor (HP:0000543); Abnormality of color vision (HP:0000551) ACO2 ACO2 2 1 Thomas Foulonneau
00225647 Patients 1 and 2 PubMed: Metodiev 2014 2 affected M ? France - - - - - neuropathy, optic, blindness Blindness (HP:0000618); Optic disc pallor (HP:0000543); Optic atrophy (HP:0000648); Dyschromatopsia (HP:0007641); Paracentral scotoma (HP:0030528) ACO2 ACO2 2 2 Thomas Foulonneau
00275687 - - - - - - - - - - - neuropathy, optic - - - - 1 Marc Ferre
00275688 - - - - - - - - - - - neuropathy, optic - ACO2 - - 1 Marc Ferre
00275689 - - - - - - - - - - - neuropathy, optic - - - - 1 Marc Ferre
00275985 - Journal: Charif 2021 - F - France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00275991 - Journal: Charif 2021 - M - France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00275992 - Journal: Charif 2021 3 generation, 3 carriers, 2 affected M ? France - - - - - neuropathy, optic Amblyopia (HP:0000646); Esodeviation (HP:0020045); Nystagmus (HP:0000639) ACO2 ACO2 1 3 Khadidja Guehlouz
00275993 - Journal: Charif 2021 - F ? France - - - - - neuropathy, optic Amblyopia (HP:0000646) ACO2 ACO2 1 1 Khadidja Guehlouz
00275994 - Journal: Charif 2021 - F ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00275995 - Journal: Charif 2021 - M - France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00275996 - Journal: Charif 2021 2 generation, 2 carriers, 1 affected M no France - - - - - neuropathy, optic Diabetes insipidus (HP:0000873); Optic atrophy (HP:0000648); Exercise intolerance (HP:0003546) ACO2 ACO2 1 2 Khadidja Guehlouz
00276060 - Journal: Charif 2021 3 generation, 3 carriers, 2 affected M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 3 Khadidja Guehlouz
00276061 - Journal: Charif 2021 - M ? France - - - - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276062 - Journal: Charif 2021 3 generations, 4 carriers, 2 affected M no France - - - - - neuropathy, optic - ACO2 ACO2 1 3 Khadidja Guehlouz
00276063 - Journal: Charif 2021 2 generations, 2 carriers, 1 affected M ? France - - - - - neuropathy, optic Macular dystrophy (HP:0007754); Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276064 - Journal: Charif 2021 - M ? France - - - - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276065 - Journal: Charif 2021 - M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00276066 - Journal: Charif 2021 2 generations, 2 carriers, 2 affected M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 2 Khadidja Guehlouz
00276072 - Journal: Charif 2021 2 generation, 2 carriers, 1 affected F ? France - - - - - neuropathy, optic - ACO2 ACO2 1 2 Khadidja Guehlouz
00276121 - Journal: Charif 2021 2 generations, 2 carriers, 1 affected M ? Pakistan - - - - - neuropathy, optic Abnormal retinal morphology on macular OCT (HP:0030612) ACO2 ACO2 1 2 Khadidja Guehlouz
00276122 - Journal: Charif 2021 - F - France - - - - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276128 - Journal: Charif 2021 - F ? France - - - - - neuropathy, optic High myopia (HP:0011003); Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276130 - Journal: Charif 2021 - M - France - - - - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276131 - Journal: Charif 2021 2 generations, 1 carrier, 1 affected M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00276132 - Journal: Charif 2021 - M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00276133 - Journal: Charif 2021 - M - France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00276135 - Journal: Charif 2021 - F ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00276136 - Journal: Charif 2021 2 generation, 2 carriers, 2 affected (son affected) F ? France - - - - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276351 - Journal: Charif 2021 - F ? Italy - - - - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00276352 - Journal: Charif 2021 2 generations, 2 carriers, 2 affected F - Italy - - - - - neuropathy, optic Congenital nystagmus (HP:0006934); Exotropia (HP:0000577); Migraine (HP:0002076); Scotoma (HP:0000575); Oculus dexter superonasal scotoma ACO2 ACO2 1 1 Khadidja Guehlouz
00276354 - Journal: Charif 2021 1 generation, 1 carrier, 1 affected (4 siblings don't affected and don't carry the variant) F ? Germany - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00276355 - Journal: Charif 2021 - M ? Germany - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00276356 - Journal: Charif 2021 - M ? Germany - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00281820 - Journal: Charif 2021 - M ? Germany - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00281821 - Journal: Charif 2021 - M ? Germany - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00281823 - Journal: Charif 2021 2 generations, 3 carriers, 2 affected (paternal) M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 3 Khadidja Guehlouz
00286161 - Journal: Charif 2021 - F ? Germany - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00286162 - Journal: Charif 2021 - F ? Germany - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00286175 - Journal: Charif 2021 - F ? Germany - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00286177 - Journal: Charif 2021 3 generations, 3 carriers, 3 affected M ? Spain - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00286182 - Journal: Charif 2021 2 generations, 2 carriers, 2 affected M ? Italy - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00286183 - Journal: Charif 2021 2 generations, 2 carriers, 1 affected M ? Italy - - - - - neuropathy, optic Ptosis (HP:0000508) ACO2 ACO2 1 1 Khadidja Guehlouz
00286184 - Journal: Charif 2021 - F ? Italy - - - - - neuropathy, optic Glaucoma (HP:0000501) ACO2 ACO2 1 1 Khadidja Guehlouz
00286185 - Journal: Charif 2021 - M - Germany - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00286188 - Journal: Charif 2021 - M ? Germany - - - - - neuropathy, optic Abnormal macular morphology (HP:0001103) ACO2 ACO2 1 1 Khadidja Guehlouz
00286190 - Journal: Charif 2021 - F - Germany - - - - - neuropathy, optic - ACO2 ACO2 2 1 Khadidja Guehlouz
00286191 - Journal: Charif 2021 - M ? England - - - - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 2 1 Khadidja Guehlouz
00286196 - Journal: Charif 2021 2 generations, 4 carriers, 1 affected F ? Italy - - - - - neuropathy, optic Cystoid macular degeneration (HP:0008028) ACO2 ACO2 2 1 Khadidja Guehlouz
00287171 - Journal: Charif 2021 - M - France - - - - - neuropathy, optic Abnormal macular morphology (HP:0001103); Mycrocyst ACO2 ACO2 1 1 Khadidja Guehlouz
00287172 - Journal: Charif 2021 2 generations, 2 carriers, 2 affected M - France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00287363 - Journal: Charif 2021 - M - France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00287364 - Journal: Charif 2021 - M - France - - - - - neuropathy, optic Mitral valve prolapse (HP:0001634); Abnormal macular morphology (HP:0001103); Renal cortical microcysts (HP:0004734) ACO2 ACO2 1 1 Khadidja Guehlouz
00287366 - Journal: Charif 2021 2 generations, 2 carriers (daughter), 1 affected F - France - - - - - neuropathy, optic Increased blood pressure (HP:0032263); Hyperglycemia (HP:0003074); Abdominal obesity (HP:0012743); Abnormal circulating cholesterol concentration (HP:0003107); Metabolic syndrome ACO2 ACO2 1 2 Khadidja Guehlouz
00287971 - Journal: Charif 2021 - F ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00287972 - Journal: Charif 2021 3 generations, 4 carriers, 2 affected M no France - - - - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 4 Khadidja Guehlouz
00287973 - Journal: Charif 2021 - M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00287974 - Journal: Charif 2021 - M ? France - - - - - neuropathy, optic Macular dystrophy (HP:0007754) ACO2 ACO2 1 1 Khadidja Guehlouz
00287975 - Journal: Charif 2021 2 generations,2 carriers, 2 affected M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00287976 - Journal: Charif 2021 - M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00287979 - Journal: Charif 2021 2 generations, 3 carriers (Both non affected parents are heterozygous for each variant),1 affected M ? France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Seizures (HP:0001250); Memory impairment (HP:0002354) ACO2 ACO2 2 1 Khadidja Guehlouz
00287980 - Journal: Charif 2021 1 generation, 3 carriers, 1 affected M ? France - - - - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00287981 - Journal: Charif 2021 2 generations, 3 carriers (both non affected parents are heterozygous for each variant), 1 affected F ? France - - - - - neuropathy, optic - ACO2 ACO2 2 1 Khadidja Guehlouz
00287982 - Journal: Charif 2021 4 generations,1 carrier, 1 affected M no France - - - - - neuropathy, optic Nystagmus (HP:0000639); Ataxia (HP:0001251); Abnormal cerebellum morphology (HP:0001317); Peripheral neuropathy (HP:0009830); Dysarthria (HP:0001260) ACO2 ACO2 2 1 Khadidja Guehlouz
00288886 - Journal: Charif 2021 - F ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00288887 - Journal: Charif 2021 Both non affected parents are HTZ for each variant F ? France - 00y-02y - - - neuropathy, optic - ACO2 ACO2 2 1 Khadidja Guehlouz
00288888 - Journal: Charif 2021 - M ? France - - - - - neuropathy, optic - ACO2 ACO2 2 1 Khadidja Guehlouz
00288889 - Journal: Charif 2021 2 generations, 5 carriers, 4 affected M ? France - - - - - neuropathy, optic - ACO2 ACO2 2 5 Khadidja Guehlouz
00288890 - Journal: Charif 2021 2 generations, 2 carriers, 1 affected M ? France - - - - - neuropathy, optic - ACO2 ACO2 2 2 Khadidja Guehlouz
00288891 - Journal: Charif 2021 Non affected mother are heterozygous for one variant F ? Italy - - - - - neuropathy, optic Anorexia (HP:0002039); Migraine (HP:0002076) ACO2 ACO2 2 1 Khadidja Guehlouz
00288892 - Journal: Charif 2021 2 generations, 3 carriers, 2 affected M ? France - - - - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00288893 - Journal: Charif 2021 - M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00288894 - Journal: Charif 2021 1 generation, 2 carriers, 2 affected M ? France - - - - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00288895 - Journal: Charif 2021 - F ? France - - - - - neuropathy, optic Amblyopia (HP:0000646); Peripheral neuropathy (HP:0009830); Hypertension (HP:0000822) ACO2 ACO2 2 1 Khadidja Guehlouz
00288896 - Journal: Charif 2021 - F ? France - - - - - neuropathy, optic Peripheral neuropathy (HP:0009830); Ataxia (HP:0001251); Spastic paraparesis (HP:0002313) ACO2 ACO2 1 1 Khadidja Guehlouz
00288897 - Journal: Charif 2021 - M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00288898 - Journal: Charif 2021 father with optic disc pallor but NO DNA M ? France - - - - - neuropathy, optic Amblyopia (HP:0000646) ACO2 ACO2 1 1 Khadidja Guehlouz
00288899 - Journal: Charif 2021 mother and daughter affected but no DNA M ? France - - - - - neuropathy, optic Retrobulbar optic neuritis (HP:0100654); Scoliosis (HP:0002650) ACO2 ACO2 2 1 Khadidja Guehlouz
00289017 - Journal: Charif 2021 3 generations, 3 carriers, 2 affected M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289018 - Journal: Charif 2021 3 generations, 3 carriers, 2 affected ( son and grandson) F ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289019 - Journal: Charif 2021 - F ? France - - - - - neuropathy, optic Hypertension (HP:0000822); Renal insufficiency (HP:0000083) ACO2 ACO2 1 1 Khadidja Guehlouz
00289020 - Journal: Charif 2021 2 generations, 3 carriers, 2 affected M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289021 - Journal: Charif 2021 2 generations, 3 carriers, 2 affected M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289022 - Journal: Charif 2021 3 generations, 4 carriers,2 affected F ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289023 - Journal: Charif 2021 3 generations, 4 carriers, 2 affected M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289024 - Journal: Charif 2021 2 generations, 5 carriers, 4 affected M ? France - - - - - neuropathy, optic - ACO2 ACO2 2 1 Khadidja Guehlouz
00289025 - Journal: Charif 2021 2 generations, 5 carriers, 4 affected M ? France - - - - - neuropathy, optic - ACO2 ACO2 2 1 Khadidja Guehlouz
00289027 - Journal: Charif 2021 2 generations, 5 carriers, 4 affected M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289028 - Journal: Charif 2021 2 generations, 5 carriers, 4 affected F ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289029 - Journal: Charif 2021 2 generations, 2 carriers, 2 affected M ? France - - - - - neuropathy, optic Optic atrophy (HP:0000648) ACO2 ACO2 1 1 Khadidja Guehlouz
00289030 - Journal: Charif 2021 2 generations, 2carriers,1 affected (son) F ? Pakistan - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289031 - Journal: Charif 2021 2 generations, 2 carriers,1 affected M ? France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
00289032 - Journal: Charif 2021 2 generations, 2 carriers, 1 affected (son) F - France - - - - - neuropathy, optic - ACO2 ACO2 1 1 Khadidja Guehlouz
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