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Quoted phrase not found in phrase index: "Nystagmus, congenital, autosomal recessive"
Page 1
Rod Monochromatism (Achromatopsia).
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:119-123. doi: 10.1007/978-3-319-95046-4_24. Adv Exp Med Biol. 2018. PMID: 30578497 Review.
Rod monochromatism (achromatopsia) is a congenital cone photoreceptor disorder, which is rare, affecting about 1 in 30,000 individuals. ...Fundus examination is normal, though pigmentary mottling and atrophic changes may be observed at the macula. Incomplete achroma …
Rod monochromatism (achromatopsia) is a congenital cone photoreceptor disorder, which is rare, affecting about 1 in 30,000 individual …
Hypomagnesaemia of hereditary renal origin.
Rodríguez-Soriano J, Vallo A, García-Fuentes M. Rodríguez-Soriano J, et al. Pediatr Nephrol. 1987 Jul;1(3):465-72. doi: 10.1007/BF00849255. Pediatr Nephrol. 1987. PMID: 3153319 Review.
Familial hypokalaemia-hypomagnesaemia, inherited as an autosomal recessive trait, has been reported in 17 patients and we now describe 3 additional cases. ...Familial hypomagnesaemia-hypercalciuria, also inherited as an autosomal recessive trait, has b …
Familial hypokalaemia-hypomagnesaemia, inherited as an autosomal recessive trait, has been reported in 17 patients and we now …
FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.
Yi S, Zheng Y, Yi Z, Wang Y, Jiang Y, Ouyang J, Li S, Xiao X, Sun W, Wang P, Zhang Q. Yi S, et al. Genes (Basel). 2023 Apr 21;14(4):952. doi: 10.3390/genes14040952. Genes (Basel). 2023. PMID: 37107710 Free PMC article.
Variants in FDXR reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expanding to retinal dystrophy. ...Before the detection of FDXR variants, four patients were clinically diagnosed as congenital amaurosis due to the presence of ny …
Variants in FDXR reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expanding to retinal dystrophy. . …
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.
de Freitas JL, Rezende Filho FM, Sallum JMF, França MC Jr, Pedroso JL, Barsottini OGP. de Freitas JL, et al. J Neurol Sci. 2020 Feb 15;409:116620. doi: 10.1016/j.jns.2019.116620. Epub 2019 Dec 6. J Neurol Sci. 2020. PMID: 31865189 Review.
Considering that the diagnosis of HSP is usually difficult and complex, specific ophthalmological changes may guide the genetic testing. There are other genetic diseases such as autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), X-linked adrenoleuko …
Considering that the diagnosis of HSP is usually difficult and complex, specific ophthalmological changes may guide the genetic testing. The …
GNAT1 associated with autosomal recessive congenital stationary night blindness.
Naeem MA, Chavali VR, Ali S, Iqbal M, Riazuddin S, Khan SN, Husnain T, Sieving PA, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA. Naeem MA, et al. Invest Ophthalmol Vis Sci. 2012 Mar 13;53(3):1353-61. doi: 10.1167/iovs.11-8026. Print 2012 Mar. Invest Ophthalmol Vis Sci. 2012. PMID: 22190596 Free PMC article.
PURPOSE: Congenital stationary night blindness is a nonprogressive retinal disorder manifesting as impaired night vision and is generally associated with other ocular symptoms, such as nystagmus, myopia, and strabismus. ...CONCLUSIONS: These data suggest that a homo …
PURPOSE: Congenital stationary night blindness is a nonprogressive retinal disorder manifesting as impaired night vision and is gener …
Autosomal dominant congenital nystagmus is not linked to 6p12, 7p11, and 15q11 in a German family.
Hoffmann S, Becker A, Hoerle S, Metz A, Oertel WH, Sommer N, Hemmer B. Hoffmann S, et al. Am J Ophthalmol. 2004 Sep;138(3):439-43. doi: 10.1016/j.ajo.2004.04.065. Am J Ophthalmol. 2004. PMID: 15364228
PURPOSE: Congenital nystagmus (CN) is an eye-movement disorder that usually starts within the first months of life. Autosomal dominant, autosomal recessive, and X-chromosomal pedigree patterns are observed. ...
PURPOSE: Congenital nystagmus (CN) is an eye-movement disorder that usually starts within the first months of life. Autosom …
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H. Haghighi A, et al. Orphanet J Rare Dis. 2014 Aug 20;9:119. doi: 10.1186/s13023-014-0119-3. Orphanet J Rare Dis. 2014. PMID: 25208612 Free PMC article. Review.
BACKGROUND: Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. ...Other common findings included blood lactic acidosis and tachydyspnoea while nysta …
BACKGROUND: Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic car …
Ophthalmic features of Joubert syndrome.
Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA. Khan AO, et al. Ophthalmology. 2008 Dec;115(12):2286-9. doi: 10.1016/j.ophtha.2008.08.005. Ophthalmology. 2008. PMID: 19041481
PURPOSE: Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare autosomal recessive congenital malformation of the brainstem and cerebellar vermis. ...Most patients (5/8) had primary-position nystagmus (see-saw in 3/5). Abnormal pursui …
PURPOSE: Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare autosomal recessive congenital malform …
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R. Zou X, et al. Retina. 2019 Oct;39(10):2040-2052. doi: 10.1097/IAE.0000000000002242. Retina. 2019. PMID: 30134391
Twenty-three probands were diagnosed with early-onset severe retinal dystrophy, 6 with Leber congenital amaurosis, 7 with autosomal recessive retinitis pigmentosa, and 2 with cone-rod dystrophy. ...Variable but characteristic phenotypes of a progressive natur …
Twenty-three probands were diagnosed with early-onset severe retinal dystrophy, 6 with Leber congenital amaurosis, 7 with autosoma …
Oculomotor deficits affect neuropsychological performance in oculomotor apraxia type 2.
Clausi S, De Luca M, Chiricozzi FR, Tedesco AM, Casali C, Molinari M, Leggio MG. Clausi S, et al. Cortex. 2013 Mar;49(3):691-701. doi: 10.1016/j.cortex.2012.02.007. Epub 2012 Mar 6. Cortex. 2013. PMID: 22480402
INTRODUCTION: Ataxia with oculomotor apraxia type 2 is a rare and early-disabling neurodegenerative disease, part of a subgroup of autosomal recessive cerebellar ataxia, in which oculomotor symptoms (e.g., increased saccade latency and hypometria) and executive func …
INTRODUCTION: Ataxia with oculomotor apraxia type 2 is a rare and early-disabling neurodegenerative disease, part of a subgroup of autoso …
29 results