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Quoted phrase not found in phrase index: "Nystagmus, congenital, autosomal recessive"
Page 1
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K. Grønskov K, et al. Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. Orphanet J Rare Dis. 2007. PMID: 17980020 Free PMC article. Review.
The clinical spectrum of OCA ranges, with OCA1A being the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3 and OCA4 show some pigment accumulation over time. Clinical manifestations include various degrees of …
The clinical spectrum of OCA ranges, with OCA1A being the most severe type with a complete lack of melanin production throughout life, while …
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. These patients have normal rod function but no detectable cone function; therefore, everything they see is in shades of gray (total color …
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 …
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. ...Our findings of asymmetric fVEPs and see-saw nystagmus suggest an abnormality in opt …
PURPOSE: Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare autosomal recessive congenital malform …
Successful RPE65 gene replacement and improved visual function in humans.
Koenekoop RK. Koenekoop RK. Ophthalmic Genet. 2008 Sep;29(3):89-91. doi: 10.1080/13816810802216480. Ophthalmic Genet. 2008. PMID: 18766986
Leber congenital amaurosis (LCA) is a group of severe autosomal recessive retinal dystrophies unified by the onset of blindness at birth and absence of ERG signals. ...Remarkably, visual improvements were documented by ETDRS visual acuity measurements, pupill …
Leber congenital amaurosis (LCA) is a group of severe autosomal recessive retinal dystrophies unified by the onset of b …
Joubert syndrome: report of 11 cases.
İncecik F, Hergüner MÖ, Altunbaşak Ş, Gleeson JG. İncecik F, et al. Turk J Pediatr. 2012 Nov-Dec;54(6):605-11. Turk J Pediatr. 2012. PMID: 23692786 Free PMC article.
Joubert syndrome (JS) is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. ...Macrocephaly (1 patient), multiple renal cysts (1 patient), ocular …
Joubert syndrome (JS) is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable …
The neurology of carbonic anhydrase type II deficiency syndrome.
Bosley TM, Salih MA, Alorainy IA, Islam MZ, Oystreck DT, Suliman OS, al Malki S, Suhaibani AH, Khiari H, Beckers S, van Wesenbeeck L, Perdu B, AlDrees A, Elmalik SA, Van Hul W, Abu-Amero KK. Bosley TM, et al. Brain. 2011 Dec;134(Pt 12):3502-15. doi: 10.1093/brain/awr302. Epub 2011 Nov 26. Brain. 2011. PMID: 22120147
Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including osteopetrosis, renal tubular acidosis and brain calcifications. ...Saccadic abnormalities were present in two, while half of these patients had …
Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including ost …
Oculocutaneous albinism type 1A: a case report.
Karaman A. Karaman A. Dermatol Online J. 2008 Nov 15;14(11):13. Dermatol Online J. 2008. PMID: 19094851 Review.
OCA1A is the most severe type with a complete lack of melanin production throughout life; the milder forms OCA1B, OCA2, OCA3 and OCA4 show some pigment accumulation over time. Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmenta …
OCA1A is the most severe type with a complete lack of melanin production throughout life; the milder forms OCA1B, OCA2, OCA3 and OCA4 show s …
Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
Levinger N, Hendler K, Banin E, Hanany M, Kimchi A, Mechoulam H, Meiner V, Parag Y, Sharon D, Macarov M, Yahalom C. Levinger N, et al. Eur J Ophthalmol. 2021 Nov;31(6):3349-3354. doi: 10.1177/1120672120977343. Epub 2020 Nov 25. Eur J Ophthalmol. 2021. PMID: 33238767
PURPOSE: Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele. ...WES analysis, confirmed by Sanger sequencing revealed COL18A1 biallelic null mutations in all affected individ …
PURPOSE: Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, an …
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium; Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E. Vincent A, et al. Am J Hum Genet. 2016 May 5;98(5):1011-1019. doi: 10.1016/j.ajhg.2016.03.021. Epub 2016 Apr 7. Am J Hum Genet. 2016. PMID: 27063057 Free PMC article.
Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. ...Both subtypes are associated with variable degrees of night blindness or photophobia, reduced …
Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteris …
33 results