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Quoted phrase not found in phrase index: "Bone spicule pigmentation of the retina"
Page 1
Sector retinitis pigmentosa.
Van Woerkom C, Ferrucci S. Van Woerkom C, et al. Optometry. 2005 May;76(5):309-17. doi: 10.1016/s1529-1839(05)70314-6. Optometry. 2005. PMID: 15884421
Sector retinitis pigmentosa is an atypical form of RP that is characterized by regionalized areas of bone spicule pigmentation, usually in the inferior quadrants of the retina. CASE REPORT: A 57-year-old Hispanic man with a history of previously diagno …
Sector retinitis pigmentosa is an atypical form of RP that is characterized by regionalized areas of bone spicule pigmentat …
Retinitis pigmentosa, pigmentary retinopathies, and neurologic diseases.
Bhatti MT. Bhatti MT. Curr Neurol Neurosci Rep. 2006 Sep;6(5):403-13. doi: 10.1007/s11910-996-0021-z. Curr Neurol Neurosci Rep. 2006. PMID: 16928351 Review.
The pathophysiologic basis of the progressive visual loss in patients with RP is not completely understood but is felt to be due to a primary retinal photoreceptor cell degenerative process mainly affecting the rods of the peripheral retina. In most cases RP is seen in iso …
The pathophysiologic basis of the progressive visual loss in patients with RP is not completely understood but is felt to be due to a primar …
Microcephaly with chorioretinal degeneration.
Atchaneeyasakul LO, Linck L, Weleber RG. Atchaneeyasakul LO, et al. Ophthalmic Genet. 1998 Mar;19(1):39-48. doi: 10.1076/opge.19.1.39.2178. Ophthalmic Genet. 1998. PMID: 9587928
The ERGs were moderately to severely subnormal for responses of both rods and cones. The retinal findings varied from no pigmentary changes, pigment clumping and bone spicules, pigmentary granularity, bull's eye maculopathy, choroidal and retinal atrophy, to …
The ERGs were moderately to severely subnormal for responses of both rods and cones. The retinal findings varied from no pigmentary changes, …
Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations.
Wang Y, Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q. Wang Y, et al. Am J Ophthalmol. 2021 Mar;223:160-168. doi: 10.1016/j.ajo.2020.10.006. Epub 2020 Oct 24. Am J Ophthalmol. 2021. PMID: 33342761 Free article.
Analyzing clinical data of the 74 individuals from 63 families revealed the following CRB1-associated phenotypes: (1) early-onset reduced visual acuity with congenital nystagmus; (2) 2 types of characteristic retinal changes including yellowish geographic macular degeneration (YM …
Analyzing clinical data of the 74 individuals from 63 families revealed the following CRB1-associated phenotypes: (1) early-onset reduced vi …
Genotype-phenotype correlations in Bardet-Biedl syndrome.
Daniels AB, Sandberg MA, Chen J, Weigel-DiFranco C, Fielding Hejtmancic J, Berson EL. Daniels AB, et al. Arch Ophthalmol. 2012 Jul;130(7):901-7. doi: 10.1001/archophthalmol.2012.89. Arch Ophthalmol. 2012. PMID: 22410627
However, multivariate analysis demonstrated that visual acuity or ERG amplitude did not depend on the type of mutation present (missense or null) when controlling for BBS gene. Prevalences of bone spicule pigmentation and cataract were comparable in BBS subty …
However, multivariate analysis demonstrated that visual acuity or ERG amplitude did not depend on the type of mutation present (missense or …
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
Karali M, Testa F, Brunetti-Pierri R, Di Iorio V, Pizzo M, Melillo P, Barillari MR, Torella A, Musacchia F, D'Angelo L, Banfi S, Simonelli F. Karali M, et al. Int J Mol Sci. 2019 Dec 20;21(1):86. doi: 10.3390/ijms21010086. Int J Mol Sci. 2019. PMID: 31877679 Free PMC article.
Retinitis pigmentosa (RP) is a clinically heterogenous disease that comprises a wide range of phenotypic and genetic subtypes. Pericentral RP is an atypical form of RP characterized by bone-spicule pigmentation and/or atrophy confined in the near mid-peripher …
Retinitis pigmentosa (RP) is a clinically heterogenous disease that comprises a wide range of phenotypic and genetic subtypes. Pericentral R …
The RPGRIP1-related retinal phenotype in children.
Khan AO, Abu-Safieh L, Eisenberger T, Bolz HJ, Alkuraya FS. Khan AO, et al. Br J Ophthalmol. 2013 Jun;97(6):760-4. doi: 10.1136/bjophthalmol-2012-303050. Epub 2013 Mar 16. Br J Ophthalmol. 2013. PMID: 23505306
The posterior pole was grossly normal with mild vascular attenuation, but one girl did have a subtle abnormal macular reflex associated with decreased autofluorescence. Retinal pigment epithelium changes were seen in the periphery, ranging from mottling to bone s …
The posterior pole was grossly normal with mild vascular attenuation, but one girl did have a subtle abnormal macular reflex associated with …
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.
Beryozkin A, Khateb S, Idrobo-Robalino CA, Khan MI, Cremers FPM, Obolensky A, Hanany M, Mezer E, Chowers I, Newman H, Ben-Yosef T, Sharon D, Banin E. Beryozkin A, et al. Sci Rep. 2020 Sep 16;10(1):15156. doi: 10.1038/s41598-020-72028-0. Sci Rep. 2020. PMID: 32938956 Free PMC article.
Visual fields were markedly constricted from early ages, but maintained for decades. Bone spicule-like pigmentary changes appeared relatively late, accompanied by nummular pigmentation. ...
Visual fields were markedly constricted from early ages, but maintained for decades. Bone spicule-like pigmentary changes appe …
Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.
Wang Y, Guo L, Cai SP, Dai M, Yang Q, Yu W, Yan N, Zhou X, Fu J, Guo X, Han P, Wang J, Liu X. Wang Y, et al. PLoS One. 2012;7(5):e33673. doi: 10.1371/journal.pone.0033673. Epub 2012 May 31. PLoS One. 2012. PMID: 22693542 Free PMC article.
Retinitis pigmentosa (RP) is a heterogeneous group of progressive retinal degenerations characterized by pigmentation and atrophy in the mid-periphery of the retina. Twenty two subjects from a four-generation Chinese family with RP and thin cornea, congenital catara …
Retinitis pigmentosa (RP) is a heterogeneous group of progressive retinal degenerations characterized by pigmentation and atrophy in …
Ultra-Widefield Steering-Based Spectral-Domain Optical Coherence Tomography Imaging of the Retinal Periphery.
Choudhry N, Golding J, Manry MW, Rao RC. Choudhry N, et al. Ophthalmology. 2016 Jun;123(6):1368-74. doi: 10.1016/j.ophtha.2016.01.045. Epub 2016 Mar 16. Ophthalmology. 2016. PMID: 26992837 Free PMC article.
METHODS: Nineteen peripheral retinal features, including vortex vein, congenital hypertrophy of the retinal pigment epithelium, pars plana, ora serrata pearl, typical cystoid degeneration (TCD), cystic retinal tuft, meridional fold, lattice and cobblestone degeneration, re …
METHODS: Nineteen peripheral retinal features, including vortex vein, congenital hypertrophy of the retinal pigment epithelium, pars …
15 results