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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 1
1991 1
2005 2
2006 2
2007 2
2008 2
2011 1
2014 1
2018 4
2019 2
2020 1
2022 1
2023 0

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19 results

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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 …
Ciliopathy: Alström Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:179-180. doi: 10.1007/978-3-319-95046-4_35. Adv Exp Med Biol. 2018. PMID: 30578508 Review.
Alstrom syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance with hyperinsulinemia, dilated cardiomyopathy, and progressive hepatic and renal failure. Patients presen …
Alstrom syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, t …
Ciliopathy: Senior-Løken Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:175-178. doi: 10.1007/978-3-319-95046-4_34. Adv Exp Med Biol. 2018. PMID: 30578507 Review.
Senior-Loken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000. Retinopathy may progress as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), or sector RP (Figs. 34.1 and 34.2). Onset of photophobia, nystagmus, …
Senior-Loken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000. Retinopathy may progress as Lebe …
Leber Congenital Amaurosis.
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:131-137. doi: 10.1007/978-3-319-95046-4_26. Adv Exp Med Biol. 2018. PMID: 30578499 Review.
Leber congenital amaurosis (LCA) is a part of the spectrum of early-onset retinal dystrophy (EORD). It usually presents in the first few years of life, most often before the age of 1 year. The prevalence is about 1:80,000. Also known as congenital retinitis pigmento …
Leber congenital amaurosis (LCA) is a part of the spectrum of early-onset retinal dystrophy (EORD). It usually presents in the first …
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 …
X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.
Yan N, Xiao L, Hou C, Guo B, Fan W, Deng Y, Ma K. Yan N, et al. BMC Med Genet. 2019 Mar 19;20(1):41. doi: 10.1186/s12881-019-0780-4. BMC Med Genet. 2019. PMID: 30890130 Free PMC article. Review.
BACKGROUND: Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. ...The novel mutation, c.498-3C > T, in FRMD7 explains why X-Linked recessive inheritance of CN was found in a subset of patients. A h …
BACKGROUND: Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. ...T …
A review of the molecular genetics of congenital Idiopathic Nystagmus (CIN).
Self J, Lotery A. Self J, et al. Ophthalmic Genet. 2007 Dec;28(4):187-91. doi: 10.1080/13816810701651233. Ophthalmic Genet. 2007. PMID: 18161616 Review.
Congenital Idiopathic Nystagmus (CIN) is genetically heterogeneous. Autosomal dominant, autosomal recessive and X-linked patterns of inheritance have been reported. ...
Congenital Idiopathic Nystagmus (CIN) is genetically heterogeneous. Autosomal dominant, autosomal recessive …
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 …
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).
Desir J, Abramowicz M. Desir J, et al. Orphanet J Rare Dis. 2008 Oct 15;3:28. doi: 10.1186/1750-1172-3-28. Orphanet J Rare Dis. 2008. PMID: 18922146 Free PMC article. Review.
The ocular manifestations in Harboyan syndrome include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. They are apparent at birth or within the neonatal period and are indistinguishable from those character …
The ocular manifestations in Harboyan syndrome include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred visio …
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.
These ophthalmological changes may precede the motor symptoms and include pigmentary retinal degeneration, ophthalmoplegia, optic atrophy, cataracts and nystagmus. Some ophthalmological abnormalities are more prevalent in specific forms of HSP. Considering that the diagnos …
These ophthalmological changes may precede the motor symptoms and include pigmentary retinal degeneration, ophthalmoplegia, optic atrophy, c …
19 results