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Quoted phrase not found in phrase index: "Bone spicule pigmentation of the retina"
Page 1
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 …
Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration.
Wang Y, Wang P, Li S, Ouyang J, Jia X, Xiao X, Yang J, Li X, Sun W, Zhang Q. Wang Y, et al. Invest Ophthalmol Vis Sci. 2021 May 3;62(6):19. doi: 10.1167/iovs.62.6.19. Invest Ophthalmol Vis Sci. 2021. PMID: 34008001 Free PMC article.
Of the 10 patients from four families with the p.Arg373Cys variant, six patients from three families who underwent full fundus examination demonstrated various degrees of macular dystrophy, as well as typical bone-spicule pigment deposits in the peripheral …
Of the 10 patients from four families with the p.Arg373Cys variant, six patients from three families who underwent full fundus examination d …
Histopathology of bone spicule pigmentation in retinitis pigmentosa.
Li ZY, Possin DE, Milam AH. Li ZY, et al. Ophthalmology. 1995 May;102(5):805-16. doi: 10.1016/s0161-6420(95)30953-0. Ophthalmology. 1995. PMID: 7777280
PURPOSE: To evaluate bone spicule pigmentation, a fundus feature in retinitis pigmentosa (RP) formed by migration of pigment-containing cells to perivascular sites in the inner retina. METHODS: The authors performed light and electron microscopy …
PURPOSE: To evaluate bone spicule pigmentation, a fundus feature in retinitis pigmentosa (RP) formed by migration of …
Double Hyperautofluorescence Rings as a Sign of CFAP410-related Retinopathy.
Li X, Wang Y, Wang J, Wang P, Zhang Q. Li X, et al. Invest Ophthalmol Vis Sci. 2023 Dec 1;64(15):44. doi: 10.1167/iovs.64.15.44. Invest Ophthalmol Vis Sci. 2023. PMID: 38153748 Free PMC article.
Among eight patients performed with ultra-wide scanning laser ophthalmoscopy, double hyperautofluorescence rings inside and outside of the macular vascular arcades were observed in six patients, and the remaining two older patients demonstrated single hyperautofluorescence …
Among eight patients performed with ultra-wide scanning laser ophthalmoscopy, double hyperautofluorescence rings inside and outside of the m …
A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.
Hayashi T, Mizobuchi K, Kameya S, Yoshitake K, Iwata T, Nakano T. Hayashi T, et al. Doc Ophthalmol. 2021 Aug;143(1):107-114. doi: 10.1007/s10633-021-09826-y. Epub 2021 Feb 21. Doc Ophthalmol. 2021. PMID: 33611760
Her corrected visual acuity was 20/13 in the right and 20/10 in the left eyes. Fundus images showed degenerative changes with bone spicule pigmentation in the mid-peripheral retina, and peripheral retinal vessels were not attenuated. ...ERG responses w …
Her corrected visual acuity was 20/13 in the right and 20/10 in the left eyes. Fundus images showed degenerative changes with bone …
IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
van Huet RA, Collin RW, Siemiatkowska AM, Klaver CC, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FP, Theelen T, den Hollander AI, van den Born LI, Klevering BJ. van Huet RA, et al. Invest Ophthalmol Vis Sci. 2014 May 29;55(6):3939-53. doi: 10.1167/iovs.14-14129. Invest Ophthalmol Vis Sci. 2014. PMID: 24876279 Free article.
Fundus abnormalities were typical of RP: optic disc pallor, attenuated vessels, bone spicules, and generalized atrophy of the retina and choriocapillaris. Additionally, we observed macular abnormalities in all patients, ranging from subtle mottling of …
Fundus abnormalities were typical of RP: optic disc pallor, attenuated vessels, bone spicules, and generalized atrophy of the …
Ocular findings in the Laurence-Moon-Bardet-Biedl syndrome.
Riise R, Andréasson S, Wright AF, Tornqvist K. Riise R, et al. Acta Ophthalmol Scand. 1996 Dec;74(6):612-7. doi: 10.1111/j.1600-0420.1996.tb00746.x. Acta Ophthalmol Scand. 1996. PMID: 9017053
The dark adaptation thresholds were elevated by on average 3.5 log units. Symptoms of night blindness were observed at a mean age of 4 years and visual problems at daytime at 6-7 years. ...In the fundus attenuated vessels were noted at all ages while macular pigmentatio …
The dark adaptation thresholds were elevated by on average 3.5 log units. Symptoms of night blindness were observed at a mean age of …
Retinitis pigmentosa sine pigmento masqueraded as myopia: A case report (CARE).
Lu Y, Sun X. Lu Y, et al. Medicine (Baltimore). 2021 Jan 22;100(3):e24006. doi: 10.1097/MD.0000000000024006. Medicine (Baltimore). 2021. PMID: 33545995 Free PMC article.
DIAGNOSIS: Fundus examination revealed leopard-like retinopathy with normal optic disc and macula appearance in both eyes. The atrophy of retinal pigment epithelium was found in peripheral retina while no bone spicule was present. ...INTERVENTIONS: At …
DIAGNOSIS: Fundus examination revealed leopard-like retinopathy with normal optic disc and macula appearance in both eyes. The atrophy of re …
Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.
DeAngelis MM, Grimsby JL, Sandberg MA, Berson EL, Dryja TP. DeAngelis MM, et al. Arch Ophthalmol. 2002 Mar;120(3):369-75. doi: 10.1001/archopht.120.3.369. Arch Ophthalmol. 2002. PMID: 11879142
OBJECTIVES: To search for mutations in the neural retina leucine zipper (NRL) gene in patients with dominant retinitis pigmentosa and to compare the severity of disease in these patients with that observed previously in patients with dominant rhodopsin mutations. .. …
OBJECTIVES: To search for mutations in the neural retina leucine zipper (NRL) gene in patients with dominant retinitis pigmentosa and …
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
Kousal B, Dudakova L, Gaillyova R, Hejtmankova M, Diblik P, Michaelides M, Liskova P. Kousal B, et al. Graefes Arch Clin Exp Ophthalmol. 2016 Sep;254(9):1833-9. doi: 10.1007/s00417-016-3358-2. Epub 2016 Apr 25. Graefes Arch Clin Exp Ophthalmol. 2016. PMID: 27113771
Hypermetropic refractive error, bilateral nummular retinal pigmentation, retinal thickening and cystoid spaces in the macula were observed in two probands, aged 6 and 7 years. The third proband, aged 28 years, had bone spicule-like pigmentary changes a …
Hypermetropic refractive error, bilateral nummular retinal pigmentation, retinal thickening and cystoid spaces in the macula were …
16 results