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Quoted phrase not found in phrase index: "Cone-rod dystrophy and hearing loss 1"
Page 1
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 fai …
Alstrom syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, heari …
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Bahena P, Daftarian N, Maroofian R, Linares P, Villalobos D, Mirrahimi M, Rad A, Doll J, Hofrichter MAH, Koparir A, Röder T, Han S, Sabbaghi H, Ahmadieh H, Behboudi H, Villanueva-Mendoza C, Cortés-Gonzalez V, Zamora-Ortiz R, Kohl S, Kuehlewein L, Darvish H, Alehabib E, Arenas-Sordo ML, Suri F, Vona B, Haaf T. Bahena P, et al. Hum Genet. 2022 Apr;141(3-4):785-803. doi: 10.1007/s00439-021-02303-1. Epub 2021 Jun 20. Hum Genet. 2022. PMID: 34148116 Free PMC article.
Here, we performed exome sequencing and analysis on 7 Mexican and 52 Iranian probands with combined retinal degeneration and hearing impairment (without intellectual disability). Clinical assessment involved ophthalmological examination and hearing loss quest …
Here, we performed exome sequencing and analysis on 7 Mexican and 52 Iranian probands with combined retinal degeneration and hearing …
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 …
Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.
Miranda V, Cortez L, Rosmaninho-Salgado J, Ramos F, Paiva C. Miranda V, et al. J Pediatr Ophthalmol Strabismus. 2024 Jan-Feb;61(1):59-66. doi: 10.3928/01913913-20230220-01. Epub 2023 Apr 24. J Pediatr Ophthalmol Strabismus. 2024. PMID: 37092661 Free article. Review.
RESULTS: Both siblings were diagnosed as having sensori-neural hearing loss and retinal dystrophy with exuberant intraretinal cystoid spaces and cone-rod dysfunction. ...CONCLUSIONS: The authors report a familial case of Heimler syndrome due to …
RESULTS: Both siblings were diagnosed as having sensori-neural hearing loss and retinal dystrophy with exuberant intrar …
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 …
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 …
Alstrom Syndrome with Early Vision and Hearing Impairement.
Beqiri-Jashari A, Janchevska A, Ahmeti I, Doksimovski F, Cipanovska M, Teov B, Stefanovska ES, Plaseska-Karanfilska D, Gucev Z. Beqiri-Jashari A, et al. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2022 Jul 13;43(2):159-162. doi: 10.2478/prilozi-2022-0028. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2022. PMID: 35843912 Free article.
Alstrom syndrome (ALMS) is an autosomal recessive disorder characterized by multiple organ involvement, including progressive cone-rod dystrophy, sensorineural hearing loss, childhood obesity, and type 2 diabetes mellitus. ...No polydactyly was …
Alstrom syndrome (ALMS) is an autosomal recessive disorder characterized by multiple organ involvement, including progressive cone- …
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 …
Alström syndrome: Two clinical cases with two novel pathogenic variants.
Herranz-Heras JC, Barceló A, Quesada-Espinosa JF, Dorado-Lopez-Rosado AM, Tejada-Palacios P, Muñoz-Gallego A. Herranz-Heras JC, et al. Eur J Ophthalmol. 2023 Jul;33(4):NP27-NP31. doi: 10.1177/11206721221123782. Epub 2022 Sep 13. Eur J Ophthalmol. 2023. PMID: 36112829
Patient 2 was a 2-year-old male with poor vision, photophobia, and nystagmus. ERG showed a severe decrease in cone and rod responses. At age of 6, his vision is lower than 0.1 (decimal scale) and VF is severely constricted. ...Ophthalmologists play an importa …
Patient 2 was a 2-year-old male with poor vision, photophobia, and nystagmus. ERG showed a severe decrease in cone and rod res …
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 …
24 results