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Volumn 155, Issue 2, 2013, Pages

Biometric and molecular characterization of clinically diagnosed posterior microphthalmos

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; MEMBRANE TYPE FRIZZLED RELATED PROTEIN; PRSS56 PROTEIN; SERINE PROTEINASE; UNCLASSIFIED DRUG;

EID: 84872307943     PISSN: 00029394     EISSN: 18791891     Source Type: Journal    
DOI: 10.1016/j.ajo.2012.08.016     Document Type: Article
Times cited : (50)

References (42)
  • 1
    • 56149107231 scopus 로고    scopus 로고
    • Posterior microphthalmos versus nanophthalmos
    • A.O. Khan Posterior microphthalmos versus nanophthalmos Ophthalmic Genet 29 4 2008 189
    • (2008) Ophthalmic Genet , vol.29 , Issue.4 , pp. 189
    • Khan, A.O.1
  • 2
    • 0016590589 scopus 로고
    • Bilateral microphthalmos without microcornea associated with unusual papillomacular retinal folds and high hyperopia
    • J.R. Boynton, and E.W. Purnell Bilateral microphthalmos without microcornea associated with unusual papillomacular retinal folds and high hyperopia Am J Ophthalmol 79 5 1975 820 826
    • (1975) Am J Ophthalmol , vol.79 , Issue.5 , pp. 820-826
    • Boynton, J.R.1    Purnell, E.W.2
  • 3
    • 0020061514 scopus 로고
    • Excessive hypermetropia: Review and case report documented by echography
    • M. Fried, G. Meyer-Schwickerath, and A. Koch Excessive hypermetropia: review and case report documented by echography Ann Ophthalmol 14 1 1982 15 19 (Pubitemid 12191816)
    • (1982) Annals of Ophthalmology , vol.14 , Issue.1 , pp. 15-19
    • Fried, M.1    Meyer-Schwickerath, G.2    Koch, A.3
  • 4
    • 0020694324 scopus 로고
    • Hereditary posterior microphthalmos with papillomacular fold and high hyperopia
    • M. Spitznas, E. Gerke, and J.B. Bateman Hereditary posterior microphthalmos with papillomacular fold and high hyperopia Arch Ophthalmol 101 3 1983 413 417
    • (1983) Arch Ophthalmol , vol.101 , Issue.3 , pp. 413-417
    • Spitznas, M.1    Gerke, E.2    Bateman, J.B.3
  • 7
    • 0029004877 scopus 로고
    • Bilateral microphthalmos with poor visual acuity, high hyperopia, and papillomacular retinal folds in siblings
    • Y. Kida, H. Kurome, and S. Hayasaka Bilateral microphthalmos with poor visual acuity, high hyperopia, and papillomacular retinal folds in siblings Jpn J Ophthalmol 39 2 1995 177 179
    • (1995) Jpn J Ophthalmol , vol.39 , Issue.2 , pp. 177-179
    • Kida, Y.1    Kurome, H.2    Hayasaka, S.3
  • 8
    • 0033402790 scopus 로고    scopus 로고
    • Posterior microphthalmos associated with papillomacular fold and high hyperopia
    • D. Goldblum, and D.S. Mojon Posterior microphthalmos associated with papillomacular fold and high hyperopia J Pediatr Ophthalmol Strabismus 36 6 1999 351 352 (Pubitemid 30013423)
    • (1999) Journal of Pediatric Ophthalmology and Strabismus , vol.36 , Issue.6 , pp. 351-352
    • Goldblum, D.1    Mojon, D.S.2
  • 9
    • 0034243854 scopus 로고    scopus 로고
    • Good visual function in posterior microphthalmos
    • A.T. Nguyen, M.A. Johnson, and K.A. Hutcheson Good visual function in posterior microphthalmos J AAPOS 4 4 2000 240 242
    • (2000) J AAPOS , vol.4 , Issue.4 , pp. 240-242
    • Nguyen, A.T.1    Johnson, M.A.2    Hutcheson, K.A.3
  • 10
    • 0033739680 scopus 로고    scopus 로고
    • Bilateral papillomacular retinal folds and posterior microphthalmus: New features of a recently established disease
    • H. Kiratli, B. Tümer, and S. Kadayifcilar Bilateral papillomacular retinal folds and posterior microphthalmus: new features of a recently established disease Ophthalmic Genet 21 3 2000 181 184
    • (2000) Ophthalmic Genet , vol.21 , Issue.3 , pp. 181-184
    • Kiratli, H.1    Tümer, B.2    Kadayifcilar, S.3
  • 11
    • 0036190922 scopus 로고    scopus 로고
    • Posterior segment changes associated with posterior microphthalmos
    • DOI 10.1016/S0161-6420(01)00996-4, PII S0161642001009964
    • M. Khairallah, R. Messaoud, S. Zaouali, S. Ben Yahia, A. Ladjimi, and S. Jenzri Posterior segment changes associated with posterior microphthalmos Ophthalmology 109 3 2002 569 574 (Pubitemid 34184928)
    • (2002) Ophthalmology , vol.109 , Issue.3 , pp. 569-574
    • Khairallah, M.1    Messaoud, R.2    Zaouali, S.3    Yahia, S.B.4    Ladjimi, A.5    Jenzri, S.6
  • 12
    • 4444339758 scopus 로고    scopus 로고
    • Optical coherence tomography of bilateral posterior microphthalmos with papillomacular fold and novel features of retinoschisis and dialysis
    • DOI 10.1016/j.ajo.2004.03.015, PII S0002939404003356
    • J.W. Kim, D.A. Boes, and J.L. Kinyoun Optical coherence tomography of bilateral posterior microphthalmos with papillomacular fold and novel features of retinoschisis and dialysis Am J Ophthalmol 138 3 2004 480 481 (Pubitemid 39208581)
    • (2004) American Journal of Ophthalmology , vol.138 , Issue.3 , pp. 480-481
    • Kim, J.W.1    Boes, D.A.2    Kinyoun, J.L.3
  • 13
    • 23044495600 scopus 로고    scopus 로고
    • Optical coherence tomographic features of papillomacular fold in posterior microphthalmos
    • DOI 10.1097/00006982-200507000-00021
    • C. Aras, A. Ozdamar, C. Ustundag, and S. Ozkan Optical coherence tomographic features of papillomacular fold in posterior microphthalmos Retina 25 5 2005 665 667 (Pubitemid 41077275)
    • (2005) Retina , vol.25 , Issue.5 , pp. 665-667
    • Aras, C.1    Ozdamar, A.2    Ustundag, C.3    Ozkan, S.4
  • 14
    • 33745134685 scopus 로고    scopus 로고
    • Bilateral posterior microphthalmos associated with papillomacular fold and severe hyperopia
    • [in French]
    • B. Tnacheri Ouazzani, K. Guedira, L.O. Cherkaoui, W. Ibrahimy, R. Daoudi, and Z. Mohcine [Bilateral posterior microphthalmos associated with papillomacular fold and severe hyperopia] J Fr Ophtalmol 29 4 2006 e9 [in French]
    • (2006) J Fr Ophtalmol , vol.29 , Issue.4 , pp. 9
    • Tnacheri Ouazzani, B.1    Guedira, K.2    Cherkaoui, L.O.3    Ibrahimy, W.4    Daoudi, R.5    Mohcine, Z.6
  • 15
  • 16
    • 54749113990 scopus 로고    scopus 로고
    • Ultrasound biomicroscopy and OCT findings in posterior microphthalmos
    • H. Erdol, M. Kola, A. Turk, and N. Akyol Ultrasound biomicroscopy and OCT findings in posterior microphthalmos Eur J Ophthalmol 18 3 2008 479 482
    • (2008) Eur J Ophthalmol , vol.18 , Issue.3 , pp. 479-482
    • Erdol, H.1    Kola, M.2    Turk, A.3    Akyol, N.4
  • 18
    • 0025047636 scopus 로고
    • Bilateral macular holes in sporadic posterior microphthalmos
    • S. Lee, E. Ai, M. Lowe, and T. Wang Bilateral macular holes in sporadic posterior microphthalmos Retina 10 3 1990 185 188 (Pubitemid 20363059)
    • (1990) Retina , vol.10 , Issue.3 , pp. 185-188
    • Lee, S.1    Ai, E.2    Lowe, M.3    Wang, T.4
  • 20
    • 70350157113 scopus 로고    scopus 로고
    • A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1
    • M. Hmani-Aifa, S. Ben Salem, and Z. Benzina A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1 Hum Genet 126 4 2009 575 587
    • (2009) Hum Genet , vol.126 , Issue.4 , pp. 575-587
    • Hmani-Aifa, M.1    Ben Salem, S.2    Benzina, Z.3
  • 21
    • 5444259426 scopus 로고    scopus 로고
    • Oculometric characteristics of extreme hypermetropia in two Faroese families
    • DOI 10.1097/00006324-200410000-00008
    • H.C. Fledelius, H.J. Fuchs, and T. Rosenberg Oculometric characteristics of extreme hypermetropia in two faroese families Optom Vis Sci 81 10 2004 762 768 (Pubitemid 39363471)
    • (2004) Optometry and Vision Science , vol.81 , Issue.10 , pp. 762-768
    • Fledelius, H.C.1    Fuchs, H.J.2    Rosenberg, T.3
  • 22
    • 79958763778 scopus 로고    scopus 로고
    • Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos
    • M.A. Aldahmesh, S.R. Nowilaty, and F. Alzahrani Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos Arch Ophthalmol 129 6 2011 805 807
    • (2011) Arch Ophthalmol , vol.129 , Issue.6 , pp. 805-807
    • Aldahmesh, M.A.1    Nowilaty, S.R.2    Alzahrani, F.3
  • 23
    • 79952476744 scopus 로고    scopus 로고
    • Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease
    • A. Gal, I. Rau, and L. El Matri Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease Am J Hum Genet 88 3 2011 382 390
    • (2011) Am J Hum Genet , vol.88 , Issue.3 , pp. 382-390
    • Gal, A.1    Rau, I.2    El Matri, L.3
  • 24
    • 79957621998 scopus 로고    scopus 로고
    • Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice
    • K.S. Nair, M. Hmani-Aifa, and Z. Ali Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice Nat Genet 43 6 2011 579 584
    • (2011) Nat Genet , vol.43 , Issue.6 , pp. 579-584
    • Nair, K.S.1    Hmani-Aifa, M.2    Ali, Z.3
  • 25
    • 79960715123 scopus 로고    scopus 로고
    • Mutations in a novel serine protease PRSS56 in families with nanophthalmos
    • A. Orr, M.P. Dubé, and J.C. Zenteno Mutations in a novel serine protease PRSS56 in families with nanophthalmos Mol Vis 17 2011 1850 1861
    • (2011) Mol Vis , vol.17 , pp. 1850-1861
    • Orr, A.1    Dubé, M.P.2    Zenteno, J.C.3
  • 28
    • 15744391670 scopus 로고    scopus 로고
    • White-to-white corneal diameter: Normal values in healthy humans obtained with the Orbscan II topography system
    • DOI 10.1097/01.ico.0000148312.01805.53
    • F. Rufer, A. Schroder, and C. Erb White-to-white corneal diameter: Normal values in healthy humans obtained with the Orbscan II topography system Cornea 24 3 2005 259 261 (Pubitemid 40418332)
    • (2005) Cornea , vol.24 , Issue.3 , pp. 259-261
    • Rufer, F.1    Schroder, A.2    Erb, C.3
  • 30
    • 0015180979 scopus 로고
    • The sagittal growth of the eye. IV. Ultrasonic measurement of the axial length of the eye from birth to puberty
    • J.S. Larsen The sagittal growth of the eye. IV. Ultrasonic measurement of the axial length of the eye from birth to puberty Acta Ophthalmol (Copenh) 49 6 1971 873 886
    • (1971) Acta Ophthalmol (Copenh) , vol.49 , Issue.6 , pp. 873-886
    • Larsen, J.S.1
  • 32
    • 0033759092 scopus 로고    scopus 로고
    • The repeatability of corneal thickness measures
    • M.W. Marsich, and M.A. Bullimore The repeatability of corneal thickness measures Cornea 19 6 2000 792 795
    • (2000) Cornea , vol.19 , Issue.6 , pp. 792-795
    • Marsich, M.W.1    Bullimore, M.A.2
  • 33
    • 79960598358 scopus 로고    scopus 로고
    • The relationships among cycloplegic refraction, keratometry, and axial length in children with refractive accommodative esotropia
    • A.O. Khan The relationships among cycloplegic refraction, keratometry, and axial length in children with refractive accommodative esotropia J AAPOS 15 3 2011 241 244
    • (2011) J AAPOS , vol.15 , Issue.3 , pp. 241-244
    • Khan, A.O.1
  • 34
    • 0031955482 scopus 로고    scopus 로고
    • Hyperopia is predominantly axial in nature
    • N.C. Strang, K.L. Schmid, and L.G. Carney Hyperopia is predominantly axial in nature Curr Eye Res 17 4 1998 380 383 (Pubitemid 28176905)
    • (1998) Current Eye Research , vol.17 , Issue.4 , pp. 380-383
    • Strang, N.C.1    Schmid, K.L.2    Carney, L.G.3
  • 35
    • 33845733173 scopus 로고    scopus 로고
    • A new autosomal recessive syndrome consisting of pasterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation
    • R. Ayala-Ramirez, F. Graue-Wiechers, V. Robredo, M. Amato-Almanza, I. Horta-Diez, and J.C. Zenteno A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation Mol Vis 12 2006 1483 1489 (Pubitemid 46002466)
    • (2006) Molecular Vision , vol.12 , pp. 1483-1489
    • Ayala-Ramirez, R.1    Graue-Wiechers, F.2    Robredo, V.3    Amato-Almanza, M.4    Horta-Diez, I.5    Zenteno, J.C.6
  • 37
    • 0016781179 scopus 로고
    • Nanophthalmos with uveal effusion. A new clinical entity
    • R.J. Brockhurst Nanophthalmos with uveal effusion. A new clinical entity Arch Ophthalmol 93 12 1975 1989 1999
    • (1975) Arch Ophthalmol , vol.93 , Issue.12 , pp. 1989-1999
    • Brockhurst, R.J.1
  • 38
    • 0019902461 scopus 로고
    • Nanophthalmos: A perspective on identification and therapy
    • O.S. Singh, R.J. Simmons, R.J. Brockhurst, and C.L. Trempe Nanophthalmos: a perspective on identification and therapy Ophthalmology 89 9 1982 1006 1012
    • (1982) Ophthalmology , vol.89 , Issue.9 , pp. 1006-1012
    • Singh, O.S.1    Simmons, R.J.2    Brockhurst, R.J.3    Trempe, C.L.4
  • 39
    • 0021795785 scopus 로고
    • Refractive development of the human eye
    • R.A. Gordon, and P.B. Donzis Refractive development of the human eye Arch Ophthalmol 103 6 1985 785 789 (Pubitemid 15059031)
    • (1985) Archives of Ophthalmology , vol.103 , Issue.6 , pp. 785-789
    • Gordon, R.A.1    Donzis, P.B.2
  • 40
    • 0030754903 scopus 로고    scopus 로고
    • Nanophthalmos with longstanding choroidal effusion and serous retinal detachment
    • L. Han, and J.D. Cairns Nanophthalmos with longstanding choroidal effusion and serous retinal detachment Aust N Z J Ophthalmol 25 2 1997 181 183 (Pubitemid 27322161)
    • (1997) Australian and New Zealand Journal of Ophthalmology , vol.25 , Issue.2 , pp. 181-183
    • Han, L.1    Cairns, J.D.2
  • 41
    • 34248591370 scopus 로고    scopus 로고
    • Abnormal foveal avascular zone in nanophthalmos
    • M.K. Walsh, and M.F. Goldberg Abnormal foveal avascular zone in nanophthalmos Am J Ophthalmol 143 6 2007 1067 1068
    • (2007) Am J Ophthalmol , vol.143 , Issue.6 , pp. 1067-1068
    • Walsh, M.K.1    Goldberg, M.F.2
  • 42
    • 47549087325 scopus 로고    scopus 로고
    • A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen
    • J. Crespí, J.A. Buil, and F. Bassaganyas A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen Am J Ophthalmol 146 2 2008 323 328
    • (2008) Am J Ophthalmol , vol.146 , Issue.2 , pp. 323-328
    • Crespí, J.1    Buil, J.A.2    Bassaganyas, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.