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Quoted phrase not found in phrase index: "Cone-rod dystrophy and hearing loss 1"
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 …
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Khateb S, Mohand-Saïd S, Nassisi M, Bonnet C, Roux AF, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I. Khateb S, et al. Retina. 2020 Aug;40(8):1603-1615. doi: 10.1097/IAE.0000000000002636. Retina. 2020. PMID: 31479088
PURPOSE: To document the rod-cone dystrophy phenotype of patients with Usher syndrome type 1 (USH1) harboring MYO7A mutations. ...RESULTS: Fifty different genetic variations including 4 novel were identified. Most patients showed a typical rod- …
PURPOSE: To document the rod-cone dystrophy phenotype of patients with Usher syndrome type 1 (USH1) harboring MY …
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.
Oh JK, Vargas Del Valle JG, Lima de Carvalho JR Jr, Sun YJ, Levi SR, Ryu J, Yang J, Nagasaki T, Emanuelli A, Rasool N, Allikmets R, Sparrow JR, Izquierdo NJ, Duncan JL, Mahajan VB, Tsang SH. Oh JK, et al. Orphanet J Rare Dis. 2022 Apr 1;17(1):146. doi: 10.1186/s13023-022-02295-9. Orphanet J Rare Dis. 2022. PMID: 35365235 Free PMC article.
Recessive loss-of-function mutations in Tubulin Tyrosine Ligase Like 5 (TTLL5) represent a recently described cause of inherited cone-rod and cone dystrophy. ...RESULTS: Genetic testing revealed five novel variants in TTLL5 in three unrelated pa …
Recessive loss-of-function mutations in Tubulin Tyrosine Ligase Like 5 (TTLL5) represent a recently described cause of inherited c …
Alteration of rod and cone function in children with Usher syndrome.
Malm E, Ponjavic V, Möller C, Kimberling WJ, Stone ES, Andréasson S. Malm E, et al. Eur J Ophthalmol. 2011 Jan-Feb;21(1):30-8. doi: 10.5301/ejo.2010.5433. Eur J Ophthalmol. 2011. PMID: 20544672
Full-field ERG demonstrated early alterations corresponding to a rod-cone dystrophy in all children. A remaining rod function could be verified in the majority of the children up to 4 years of age. After 4 years of age, there was a further deterioratio …
Full-field ERG demonstrated early alterations corresponding to a rod-cone dystrophy in all children. A remaining rod …
Retinitis pigmentosa inversa.
Ferrucci S, Anderson SF, Townsend JC. Ferrucci S, et al. Optom Vis Sci. 1998 Aug;75(8):560-70. doi: 10.1097/00006324-199808000-00021. Optom Vis Sci. 1998. PMID: 9734800
The patient became virtually blind secondary to visual acuity loss with dense central and paracentral scotomas. The peripheral visual fields remained intact. ...Differential diagnoses include Leber's congenital amaurosis, central gyrate atrophy, central areolar choroidal s …
The patient became virtually blind secondary to visual acuity loss with dense central and paracentral scotomas. The peripheral visual …
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
Griffith J 3rd, Sioufi K, Wilbanks L, Magrath GN, Say EAT, Lyons MJ, Wilkes M, Pai GS, Peterseim MMW. Griffith J 3rd, et al. Genes (Basel). 2022 Aug 20;13(8):1490. doi: 10.3390/genes13081490. Genes (Basel). 2022. PMID: 36011402 Free PMC article.
The known ethnic groups included White (64%), African American or Black (30%), Hispanic (3%), and Asian (2%). The most prevalent dystrophies identified clinically were non-syndromic retinitis pigmentosa (29.8%), Stargardt disease (8.3%), Usher syndrome (8.3%), cone- …
The known ethnic groups included White (64%), African American or Black (30%), Hispanic (3%), and Asian (2%). The most prevalent dystroph …
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
Jurkute N, Shanmugarajah PD, Hadjivassiliou M, Higgs J, Vojcic M, Horrocks I, Nadjar Y, Touitou V, Lenaers G, Poh R, Acheson J, Robson AG, Raymond FL, Reilly MM, Yu-Wai-Man P, Moore AT, Webster AR, Arno G; Genomics England Research Consortium. Jurkute N, et al. Invest Ophthalmol Vis Sci. 2021 May 3;62(6):2. doi: 10.1167/iovs.62.6.2. Invest Ophthalmol Vis Sci. 2021. PMID: 33938912 Free PMC article.
In addition to bilateral optic atrophy and variable extra-ocular findings, 7 of 10 individuals manifested retinal dystrophy comprising dysfunction and degeneration of both rod and cone photoreceptors. Five of 10 subjects had sensorineural hearing lo …
In addition to bilateral optic atrophy and variable extra-ocular findings, 7 of 10 individuals manifested retinal dystrophy comprisin …
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
Murch O, Jain V, Benneche A, Metcalfe K, Hobson E, Prescott K, Chandler K, Ghali N, Carmichael J, Foulds NC, Paulsen J, Smeland MF, Berland S, Fry AE. Murch O, et al. Eur J Hum Genet. 2022 Jan;30(1):95-100. doi: 10.1038/s41431-021-00961-3. Epub 2021 Oct 14. Eur J Hum Genet. 2022. PMID: 34645992 Free PMC article. Review.
The results demonstrate WHSUS is associated with variable developmental delay or intellectual disability, increased risk of obesity, visual defects, craniofacial dysmorphism, sensorineural hearing loss, feeding problems, seizures, and structural brain malformations. …
The results demonstrate WHSUS is associated with variable developmental delay or intellectual disability, increased risk of obesity, visual …
Clinical diagnoses that overlap with choroideremia.
Lee TK, McTaggart KE, Sieving PA, Heckenlively JR, Levin AV, Greenberg J, Weleber RG, Tong PY, Anhalt EF, Powell BR, MacDonald IM. Lee TK, et al. Can J Ophthalmol. 2003 Aug;38(5):364-72; quiz 372. doi: 10.1016/s0008-4182(03)80047-9. Can J Ophthalmol. 2003. PMID: 12956277
Four patients were reclassified as having retinitis pigmentosa (RP) from the clinical phenotype; only two clearly had X-linked inheritance. One patient had a syndrome including macular dystrophy, hearing loss, developmental delay and cerebral palsy. One patie …
Four patients were reclassified as having retinitis pigmentosa (RP) from the clinical phenotype; only two clearly had X-linked inheritance. …
First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.
Pomahačová R, Zamboryová J, Sýkora J, Paterová P, Fiklík K, Votava T, Černá Z, Jehlička P, Lád V, Šubrt I, Dort J, Dortová E. Pomahačová R, et al. Pediatr Diabetes. 2017 Dec;18(8):844-847. doi: 10.1111/pedi.12479. Epub 2016 Dec 22. Pediatr Diabetes. 2017. PMID: 28004468
Thiamine supplementation has prevented hematological disorders over a few years in both pediatric subjects, and improved glycaemic control of diabetes mellitus. Patient 1 was suffering from hearing loss and rod-cone dystrophy at the time …
Thiamine supplementation has prevented hematological disorders over a few years in both pediatric subjects, and improved glycaemic control o …