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Page 1
Ciliopathy: Usher Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:167-170. doi: 10.1007/978-3-319-95046-4_32. Adv Exp Med Biol. 2018. PMID: 30578505 Review.
Usher syndrome is the most common syndromic cause of retinitis pigmentosa (RP) and accounts for 10-20% of cases of RP Inheritance is autosomal recessive, and the retinal dystrophy is usually rod-cone dystrophy (Figs. 32.1 and 32.2). These patien …
Usher syndrome is the most common syndromic cause of retinitis pigmentosa (RP) and accounts for 10-20% of cases of RP Inheritance is autosom …
Ciliopathy: Bardet-Biedl Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:171-174. doi: 10.1007/978-3-319-95046-4_33. Adv Exp Med Biol. 2018. PMID: 30578506 Review.
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). ...Other associated problems include CNS-related ataxia, a …
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod- …
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 re …
Alstrom syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, heari …
Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update.
Robson AG, Michaelides M, Saihan Z, Bird AC, Webster AR, Moore AT, Fitzke FW, Holder GE. Robson AG, et al. Doc Ophthalmol. 2008 Mar;116(2):79-89. doi: 10.1007/s10633-007-9087-4. Epub 2007 Nov 6. Doc Ophthalmol. 2008. PMID: 17985165 Free PMC article. Review.
Others included a case of Leber congenital amaurosis and genetically confirmed cases of cone or cone-rod dystrophy (GUCA1A, RPGR, RIMS1), "cone dystrophy with supernormal rod ERG" (KCNV2) and X-linked retinoschisis (RS1). Internati …
Others included a case of Leber congenital amaurosis and genetically confirmed cases of cone or cone-rod dystrophy …
[Alström syndrome, a rare cause of renal failure: case report and review of the literature].
Faggian G, Cesaro A, Faggian R, Del Piano C, Vitagliano A, Del Piano D, Tibullo L, Faggian A. Faggian G, et al. G Ital Nefrol. 2021 Oct 26;38(5):2021-vol5. G Ital Nefrol. 2021. PMID: 34713644 Review. Italian.
We describe the case of a 26-year-old male patient with a previous diagnosis of Alstrom Syndrome who presented drowsiness, dyspnea, tremors, and a dull abdominal pain, without signs of peritoneal irritation. The patient also presented sensorineural hearing loss, dec …
We describe the case of a 26-year-old male patient with a previous diagnosis of Alstrom Syndrome who presented drowsiness, dyspnea, tremors, …