POC1B Mutation in Recessive Cone-Rod Dystrophy
7. De Rouck A, Kayembe D. A clinical procedure for the simultaneous recording of fast and slow EOG oscillations. Int Ophthalmol. 1981;3(3):179-189. 8. Gloesmann M, Hermann B, Schubert C, Sattmann H, Ahnelt PK, Drexler W. Histologic correlation of pig retina radial stratification with ultrahigh-resolution optical coherence tomography. Invest Ophthalmol Vis Sci. 2003;44(4):1696-1703. 9. Baba T, Yamamoto S, Arai M, et al. Correlation of visual recovery and presence of photoreceptor inner/outer segment junction in optical coherence images after successful macular hole repair. Retina. 2008;28(3):453-458. 10. Spaide RF, Curcio CA. Anatomical correlates to the bands seen in the outer retina by optical coherence tomography: literature review and model. Retina. 2011;31(8):1609-1619.
Original Investigation Research
11. Hood DC, Zhang X, Ramachandran R, et al. The inner segment/outer segment border seen on optical coherence tomography is less intense in patients with diminished cone function. Invest Ophthalmol Vis Sci. 2011;52(13):9703-9709. 12. Lima LH, Sallum JM, Spaide RF. Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients. Retina. 2013;33(9): 1877-1880. 13. Collins JS, Schwartz CE. Detecting polymorphisms and mutations in candidate genes. Am J Hum Genet. 2002;71(5):1251-1252. 14. Keller LC, Geimer S, Romijn E, Yates J III, Zamora I, Marshall WF. Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole
duplication and length control. Mol Biol Cell. 2009; 20(4):1150-1166. 15. Pearson CG, Osborn DP, Giddings TH Jr, Beales PL, Winey M. Basal body stability and ciliogenesis requires the conserved component Poc1. J Cell Biol. 2009;187(6):905-920. 16. Nishimura DY, Baye LM, Perveen R, et al. Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. Am J Hum Genet. 2010; 86(5):686-695. 17. Estrada-Cuzcano A, Neveling K, Kohl S, et al; European Retinal Disease Consortium. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet. 2012; 90(1):102-109.
OPHTHALMIC IMAGES
Optical Coherence Tomography of a Cystic Retinal Tuft Lauren S. Taney, MD; Caroline R. Baumal, MD A
B
C
D
Cystic retinal tuft (CRT) is a developmental vitreoretinal abnormality found in 5% of autopsy eyes. Clinical examination reveals a focal, elevated gliotic lesion in the peripheral retina associated with vitreous traction (Figure, A and B). Histopathological analysis demonstrates a dome-shaped area with internal microcysts, glial cell proliferation, outer retinal degeneration, and photoreceptor loss. Optical coherence tomography reveals a similar configuration with separation of the retina from the retinal pigment epithelium (Figure, C and D). The characteristic intralesional cystic changes on histopathological analysis are not apparent with optical coherence tomography. To our knowledge, optical coherence tomography of CRT has not previously been reported and imaging may be precluded by its peripheral location. The firm vitreous adhesion to a CRT may predispose to retinal tear during posterior vitreous detachment. However, the incidence of retinal detachment from CRT is low and estimated at 0.3%. Thus, prophylactic therapy of asymptomatic CRT is typically not indicated.
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7. De Rouck A, Kayembe D. A clinical procedure for the simultaneous recording of fast and slow EOG oscillations. Int Ophthalmol. 1981;3(3):179-189. 8. Gloesmann M, Hermann B, Schubert C, Sattmann H, Ahnelt PK, Drexler W. Histologic correlation of pig retina radial stratification with ultrahigh-resolution optical coherence tomography. Invest Ophthalmol Vis Sci. 2003;44(4):1696-1703. 9. Baba T, Yamamoto S, Arai M, et al. Correlation of visual recovery and presence of photoreceptor inner/outer segment junction in optical coherence images after successful macular hole repair. Retina. 2008;28(3):453-458. 10. Spaide RF, Curcio CA. Anatomical correlates to the bands seen in the outer retina by optical coherence tomography: literature review and model. Retina. 2011;31(8):1609-1619.
Original Investigation Research
11. Hood DC, Zhang X, Ramachandran R, et al. The inner segment/outer segment border seen on optical coherence tomography is less intense in patients with diminished cone function. Invest Ophthalmol Vis Sci. 2011;52(13):9703-9709. 12. Lima LH, Sallum JM, Spaide RF. Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients. Retina. 2013;33(9): 1877-1880. 13. Collins JS, Schwartz CE. Detecting polymorphisms and mutations in candidate genes. Am J Hum Genet. 2002;71(5):1251-1252. 14. Keller LC, Geimer S, Romijn E, Yates J III, Zamora I, Marshall WF. Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole
duplication and length control. Mol Biol Cell. 2009; 20(4):1150-1166. 15. Pearson CG, Osborn DP, Giddings TH Jr, Beales PL, Winey M. Basal body stability and ciliogenesis requires the conserved component Poc1. J Cell Biol. 2009;187(6):905-920. 16. Nishimura DY, Baye LM, Perveen R, et al. Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. Am J Hum Genet. 2010; 86(5):686-695. 17. Estrada-Cuzcano A, Neveling K, Kohl S, et al; European Retinal Disease Consortium. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet. 2012; 90(1):102-109.
OPHTHALMIC IMAGES
Optical Coherence Tomography of a Cystic Retinal Tuft Lauren S. Taney, MD; Caroline R. Baumal, MD A
B
C
D
Cystic retinal tuft (CRT) is a developmental vitreoretinal abnormality found in 5% of autopsy eyes. Clinical examination reveals a focal, elevated gliotic lesion in the peripheral retina associated with vitreous traction (Figure, A and B). Histopathological analysis demonstrates a dome-shaped area with internal microcysts, glial cell proliferation, outer retinal degeneration, and photoreceptor loss. Optical coherence tomography reveals a similar configuration with separation of the retina from the retinal pigment epithelium (Figure, C and D). The characteristic intralesional cystic changes on histopathological analysis are not apparent with optical coherence tomography. To our knowledge, optical coherence tomography of CRT has not previously been reported and imaging may be precluded by its peripheral location. The firm vitreous adhesion to a CRT may predispose to retinal tear during posterior vitreous detachment. However, the incidence of retinal detachment from CRT is low and estimated at 0.3%. Thus, prophylactic therapy of asymptomatic CRT is typically not indicated.
jamaophthalmology.com
JAMA Ophthalmology October 2014 Volume 132, Number 10
Copyright 2014 American Medical Association. All rights reserved.
Downloaded From: http://archopht.jamanetwork.com/ by a Rutgers University Libraries User on 06/01/2015
1191
