Correspondence be considered in atypical ophthalmic presentations with systemic manifestations, even in adults. Emil D. Kurniawan, David P. Francis, Lloyd Bender Department of Ophthalmology, Royal Melbourne Hospital, Melbourne, Victoria, Australia Correspondence to: Emil D. Kurniawan, MBBS: [email protected] REFERENCES 1. Ashworth JL, Kruse FE, Bachmann B, et al. Ocular manifestations in the mucopolysaccharidoses—a review. Clin Experiment Ophthalmol. 2010;38:12-22.
Temporal pellucid marginal degeneration displaying high “with-the-rule” astigmatism Pellucid marginal degeneration is a rare, noninflammatory, progressive form of ectatic degeneration of the cornea, usually bilateral, presenting more often between the third and fifth decades of life. It occurs with a higher incidence in males.1 It usually manifests as a slowly progressive decrease of vision because of the appearance of an “againstthe-rule” astigmatism that is progressive and often irregular. It is diagnosed by slit-lamp biomicroscopy, which shows a peripheral area of stromal thinning separated from the limbus by a healthy corneal area of 2 mm; then it is confirmed topographically. The topography image usually shows the “butterfly wings,” “croissant,” or “crab-claw” image, caused by the vertical flattening of the cornea and the ectatic cornea superior to the area of maximum thinning. Most cases are located in the lower cornea between 4 and 8 hours, but superior locations have been described, as well as 1 nasal form.2–6 We report the case of a 33-year-old female who described a gradual decrease in visual acuity in her right eye for several months. The patient had no relevant personal or family history. Systemic work-up was negative, ruling out any associated autoimmune disease. The visual acuity was 20/50 and improved to 20/30 with –2.25 þ 7.75 901. The refraction with cycloplegic drops confirmed a high “with-the-rule” astigmatism (þ0.25 þ7.5 851). The slit-lamp biomicroscopy showed a temporal thinning at 2 mm from the limbus without any epithelial defects, neovascularization, or lipid deposition (Fig. 1). In the Scheimpflug topography with Pentacam (OCULUS Optikgerate GmbH, Wetzlar, Germany), a “butterfly wings” image was detected in the temporal area (Fig. 2), with an abnormal temporal thinning, a steepening central to the area of maximum thinning, and a significant posterior surface elevation. The diagnosis of temporal pellucid marginal degeneration was made. She had no complaints about her left eye, her visual acuity with no
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2. Ashworth JL, Biswas S, Wraith E, Lloyd IC. Mucopolysaccharidoses and the eye. Surv Ophthalmol. 2006;51:1-17. 3. Hendriksz C. Improved diagnostic procedures in attenuated mucopolysaccharidosis. Br J Hosp Med (Lond). 2011;72:91-5. 4. Bahadir C, Kurtulus D, Cihandide E. Mucopolysaccharidosis type-IS presenting with onset of carpal tunnel syndrome at adolescence. J Clin Rheumatol. 2009;15:402-4. 5. Wraith JE, Clarke LA, Beck M, et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebocontrolled, multinational study of recombinant human alpha-Liduronidase (laronidase). J Pediatr. 2004;144:581-8. Can J Ophthalmol 2013;48:e141–e142 0008-4182/13/$-see front matter Crown Copyright & 2013 Published by Elsevier Inc on behalf of the Canadian Ophthalmological Society. All rights reserved. http://dx.doi.org/10.1016/j.jcjo.2013.04.010
optical correction being 20/20. The slit-lamp examination showed no significant corneal thinning. The only remarkable alteration was seen in the Scheimpflug topography with Pentacam camera (Pentacam; OCULUS Optikgerate GmbH) represented by an abnormal elevation of the posterior surface slightly displaced toward the temporal cornea, as well as a significant thinning in the same location (Fig. 3). The cycloplegic refraction revealed only half diopter of “against-the-rule” astigmatism (þ0.5 þ0.5 1721), although a “with-the-rule” cylinder of 0.6 appears in the topography. The case we present is unique because of the location of the stromal thinning in the temporal area, with the appearance of a high “with-the-rule” astigmatism. Most of the cases of pellucid marginal degeneration previously described in the literature presented as an area of inferior stromal thinning with a protrusion of the cornea above the thinned zone causing a high “against-the-rule” cylinder.1 The presence of a high “with-the-rule” astigmatism at the time of
Fig. 1 — Slit-lamp photograph of the right eye showing the peripheral band of thinning in the temporal zone without any epithelial defects, neovascularization, or lipid deposition.
CAN J OPHTHALMOL — VOL. 48, NO. 6, DECEMBER 2013
Correspondence
Fig. 2 — Pentacam 4-map composite display of the right eye (anterior and posterior elevation, pachymetry, and sagittal curvature). The curvature map shows the horizontal flattening and high “with-the-rule” astigmatism. The pachymetry distribution map shows the hallmark of the disease with a band of thinning 2 mm from the limbus.
Fig. 3 — Pentacam 4-map composite display of the left eye (anterior and posterior elevation, pachymetry, and sagittal curvature) showing the posterior surface elevation in the temporal zone.
CAN J OPHTHALMOL — VOL. 48, NO. 6, DECEMBER 2013
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Correspondence the diagnosis draws the attention in this case, causing the reduced vision the patient referred. Superior pellucid marginal degeneration cases have already been described in the literature, with high occurrence of “against-the-rule” astigmatism, the same as in the classic inferior form.2–6 A case of nasal degeneration has also been published in which a “with-the-rule” astigmatism appeared, but we have not found any reported case of temporally located corneal degeneration. Pellucid marginal degeneration of the cornea is typically a bilateral disease, although unilateral cases have been outlined, some of which had an atypical location as well. All of these cases have been superior, not temporal as in our case. The case we describe had no symptoms and no significant ectasia in her left eye, but it could be diagnosed as a suspicion of an ectatic corneal disorder because of the Scheimpflug findings of thinning and posterior surface elevation in the temporal zone. We finally emphasize the higher order aberrations measured with Pentacam (Pentacam; OCULUS Optikgerate GmbH). We present these findings because there are few reports of corneal aberrations in these patients. Because of the location of the degeneration presented in this article, the horizontal coma predominates over the vertical coma. Both trefoil and positive spherical aberration have been described before in association with pellucid marginal degeneration as in our case. This is different in patients with keratoconus where the trefoil is less frequent and the spherical aberration is typically negative.7 Further research in the pathogenesis of this disease may help explain the findings in cases like the one described in this report.
A novel TGM1 splicing mutation in a collodion baby with cicatricial ectropion Collodion baby is a term to describe newborns with thick skin sheets, called “collodion membrane,” covering the entire surface of the body, which is the result of abnormal epidermal cornification. We report a novel splice site mutation of transglutaminase 1 (TGM1) that is identified in a collodion baby with cicatricial ectropion at birth. A 6-day-old neonate was transferred to our hospital for further evaluation and management of collodion membrane on his whole body. He was born at 37 weeks gestation, weighing 3.04 kg, and was the first baby of nonconsanguineous parents. There was no family history of ocular, skin, or any chromosomal disorders. He had severe platelike hyperkeratotic scales covering whole body surface (Fig. 1A). Severe upper and lower ectropion with hyperkeratosis and lagophthalmos was also observed (Fig. 1B). The cornea, lens, and retina had no abnormal findings. Sufficient amount of artificial lubricant and antibiotic ointment were applied continuously to prevent exposure keratopathy and
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Pilar Puy, * Bazil T.L. Stoica, * Nicolas Alejandre, † Nicolas Toledano * Universitario de Fuenlabrada; and †Hospital Fundacion Jimenez Diaz, Madrid, Spain
*Hospital
Correspondence to: Pilar Puy, MD: [email protected]
REFERENCES 1. Tzelikis PF, Cohen EJ, Rapuano CJ, Hammersmith KM, Laibson PR. Management of pellucid marginal corneal degeneration. Cornea. 2005;24:555-60. 2. Sridhar MS, Mahesh S, Bansal AK, Rao GN. Superior pellucid marginal corneal degeneration. Eye. 2004;18:393-9. 3. Taglia DP, Sugar J. Superior pellucid marginal corneal degeneration with hydrops. Arch Ophtahlmol. 1997;115:274-5. 4. Rao SK, Fogla R, Padmanabhan P, Prema M, Sitalakshmi G. Corneal topography in atypical pellucid marginal degeneration. Cornea. 1999;18:265-72. 5. Dundar H, Kara N, Kaya V, Bozkurt E, Yazici AT, Hekimhan PK. Unilateral superior pellucid marginal degeneration in a case with ichthyosis. Cont Lens Anterior Eye. 2011;34:45-8. 6. Ertan A, Bahadir M. Management of superior pellucid marginal degeneration with a single intracorneal ring segment using femtosecond laser. J Refract Surg. 2007;23:205-8. 7. Oie Y, Maeda N, Kosaki R, et al. Characteristics of ocular higherorder aberrations in patients with pellucid marginal corneal degeneration. J Cataract Refract Surg. 2008;34:1928-34. Can J Ophthalmol 2013;48:e142–e144 0008-4182/13/$-see front matter & 2013 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.jcjo.2013.05.020
secondary infection. The neonatologists maintained his electrolyte balance, applied emollients, and kept him in an incubator with sufficient humidification. After obtaining an informed consent, direct DNA sequencing of the TGM1 gene was performed. All 15 exons were amplified using the primers previously described. Polymerase chain reaction amplicons were bidirectionally sequenced with the Big Dye terminator v3.1 cycle sequencing kit (Applied Biosystems, Foster City, CA), using the ABI PRISM 3100 Genetic Analyzer (Applied Biosystems). RefSeq ID: NM_032034.2 was used for cDNA nucleotide numbering. He was a compound heterozygote with splicing (c.1160-2A4C, IVS72A4C) and missense (c.424C4T, R142C) mutations of TGM1 (Fig. 2). c.1160-2A4C mutation is a novel splicing mutation that has not been previously reported. Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization, characterized mainly by abnormal skin scaling over the whole body, which includes lamellar ichthyosis (LI; OMIM 242300), congenital ichthyosiform erythroderma (CIE;
CAN J OPHTHALMOL — VOL. 48, NO. 6, DECEMBER 2013
Temporal pellucid marginal degeneration displaying high “with-the-rule” astigmatism Pellucid marginal degeneration is a rare, noninflammatory, progressive form of ectatic degeneration of the cornea, usually bilateral, presenting more often between the third and fifth decades of life. It occurs with a higher incidence in males.1 It usually manifests as a slowly progressive decrease of vision because of the appearance of an “againstthe-rule” astigmatism that is progressive and often irregular. It is diagnosed by slit-lamp biomicroscopy, which shows a peripheral area of stromal thinning separated from the limbus by a healthy corneal area of 2 mm; then it is confirmed topographically. The topography image usually shows the “butterfly wings,” “croissant,” or “crab-claw” image, caused by the vertical flattening of the cornea and the ectatic cornea superior to the area of maximum thinning. Most cases are located in the lower cornea between 4 and 8 hours, but superior locations have been described, as well as 1 nasal form.2–6 We report the case of a 33-year-old female who described a gradual decrease in visual acuity in her right eye for several months. The patient had no relevant personal or family history. Systemic work-up was negative, ruling out any associated autoimmune disease. The visual acuity was 20/50 and improved to 20/30 with –2.25 þ 7.75 901. The refraction with cycloplegic drops confirmed a high “with-the-rule” astigmatism (þ0.25 þ7.5 851). The slit-lamp biomicroscopy showed a temporal thinning at 2 mm from the limbus without any epithelial defects, neovascularization, or lipid deposition (Fig. 1). In the Scheimpflug topography with Pentacam (OCULUS Optikgerate GmbH, Wetzlar, Germany), a “butterfly wings” image was detected in the temporal area (Fig. 2), with an abnormal temporal thinning, a steepening central to the area of maximum thinning, and a significant posterior surface elevation. The diagnosis of temporal pellucid marginal degeneration was made. She had no complaints about her left eye, her visual acuity with no
e142
2. Ashworth JL, Biswas S, Wraith E, Lloyd IC. Mucopolysaccharidoses and the eye. Surv Ophthalmol. 2006;51:1-17. 3. Hendriksz C. Improved diagnostic procedures in attenuated mucopolysaccharidosis. Br J Hosp Med (Lond). 2011;72:91-5. 4. Bahadir C, Kurtulus D, Cihandide E. Mucopolysaccharidosis type-IS presenting with onset of carpal tunnel syndrome at adolescence. J Clin Rheumatol. 2009;15:402-4. 5. Wraith JE, Clarke LA, Beck M, et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebocontrolled, multinational study of recombinant human alpha-Liduronidase (laronidase). J Pediatr. 2004;144:581-8. Can J Ophthalmol 2013;48:e141–e142 0008-4182/13/$-see front matter Crown Copyright & 2013 Published by Elsevier Inc on behalf of the Canadian Ophthalmological Society. All rights reserved. http://dx.doi.org/10.1016/j.jcjo.2013.04.010
optical correction being 20/20. The slit-lamp examination showed no significant corneal thinning. The only remarkable alteration was seen in the Scheimpflug topography with Pentacam camera (Pentacam; OCULUS Optikgerate GmbH) represented by an abnormal elevation of the posterior surface slightly displaced toward the temporal cornea, as well as a significant thinning in the same location (Fig. 3). The cycloplegic refraction revealed only half diopter of “against-the-rule” astigmatism (þ0.5 þ0.5 1721), although a “with-the-rule” cylinder of 0.6 appears in the topography. The case we present is unique because of the location of the stromal thinning in the temporal area, with the appearance of a high “with-the-rule” astigmatism. Most of the cases of pellucid marginal degeneration previously described in the literature presented as an area of inferior stromal thinning with a protrusion of the cornea above the thinned zone causing a high “against-the-rule” cylinder.1 The presence of a high “with-the-rule” astigmatism at the time of
Fig. 1 — Slit-lamp photograph of the right eye showing the peripheral band of thinning in the temporal zone without any epithelial defects, neovascularization, or lipid deposition.
CAN J OPHTHALMOL — VOL. 48, NO. 6, DECEMBER 2013
Correspondence
Fig. 2 — Pentacam 4-map composite display of the right eye (anterior and posterior elevation, pachymetry, and sagittal curvature). The curvature map shows the horizontal flattening and high “with-the-rule” astigmatism. The pachymetry distribution map shows the hallmark of the disease with a band of thinning 2 mm from the limbus.
Fig. 3 — Pentacam 4-map composite display of the left eye (anterior and posterior elevation, pachymetry, and sagittal curvature) showing the posterior surface elevation in the temporal zone.
CAN J OPHTHALMOL — VOL. 48, NO. 6, DECEMBER 2013
e143
Correspondence the diagnosis draws the attention in this case, causing the reduced vision the patient referred. Superior pellucid marginal degeneration cases have already been described in the literature, with high occurrence of “against-the-rule” astigmatism, the same as in the classic inferior form.2–6 A case of nasal degeneration has also been published in which a “with-the-rule” astigmatism appeared, but we have not found any reported case of temporally located corneal degeneration. Pellucid marginal degeneration of the cornea is typically a bilateral disease, although unilateral cases have been outlined, some of which had an atypical location as well. All of these cases have been superior, not temporal as in our case. The case we describe had no symptoms and no significant ectasia in her left eye, but it could be diagnosed as a suspicion of an ectatic corneal disorder because of the Scheimpflug findings of thinning and posterior surface elevation in the temporal zone. We finally emphasize the higher order aberrations measured with Pentacam (Pentacam; OCULUS Optikgerate GmbH). We present these findings because there are few reports of corneal aberrations in these patients. Because of the location of the degeneration presented in this article, the horizontal coma predominates over the vertical coma. Both trefoil and positive spherical aberration have been described before in association with pellucid marginal degeneration as in our case. This is different in patients with keratoconus where the trefoil is less frequent and the spherical aberration is typically negative.7 Further research in the pathogenesis of this disease may help explain the findings in cases like the one described in this report.
A novel TGM1 splicing mutation in a collodion baby with cicatricial ectropion Collodion baby is a term to describe newborns with thick skin sheets, called “collodion membrane,” covering the entire surface of the body, which is the result of abnormal epidermal cornification. We report a novel splice site mutation of transglutaminase 1 (TGM1) that is identified in a collodion baby with cicatricial ectropion at birth. A 6-day-old neonate was transferred to our hospital for further evaluation and management of collodion membrane on his whole body. He was born at 37 weeks gestation, weighing 3.04 kg, and was the first baby of nonconsanguineous parents. There was no family history of ocular, skin, or any chromosomal disorders. He had severe platelike hyperkeratotic scales covering whole body surface (Fig. 1A). Severe upper and lower ectropion with hyperkeratosis and lagophthalmos was also observed (Fig. 1B). The cornea, lens, and retina had no abnormal findings. Sufficient amount of artificial lubricant and antibiotic ointment were applied continuously to prevent exposure keratopathy and
e144
Pilar Puy, * Bazil T.L. Stoica, * Nicolas Alejandre, † Nicolas Toledano * Universitario de Fuenlabrada; and †Hospital Fundacion Jimenez Diaz, Madrid, Spain
*Hospital
Correspondence to: Pilar Puy, MD: [email protected]
REFERENCES 1. Tzelikis PF, Cohen EJ, Rapuano CJ, Hammersmith KM, Laibson PR. Management of pellucid marginal corneal degeneration. Cornea. 2005;24:555-60. 2. Sridhar MS, Mahesh S, Bansal AK, Rao GN. Superior pellucid marginal corneal degeneration. Eye. 2004;18:393-9. 3. Taglia DP, Sugar J. Superior pellucid marginal corneal degeneration with hydrops. Arch Ophtahlmol. 1997;115:274-5. 4. Rao SK, Fogla R, Padmanabhan P, Prema M, Sitalakshmi G. Corneal topography in atypical pellucid marginal degeneration. Cornea. 1999;18:265-72. 5. Dundar H, Kara N, Kaya V, Bozkurt E, Yazici AT, Hekimhan PK. Unilateral superior pellucid marginal degeneration in a case with ichthyosis. Cont Lens Anterior Eye. 2011;34:45-8. 6. Ertan A, Bahadir M. Management of superior pellucid marginal degeneration with a single intracorneal ring segment using femtosecond laser. J Refract Surg. 2007;23:205-8. 7. Oie Y, Maeda N, Kosaki R, et al. Characteristics of ocular higherorder aberrations in patients with pellucid marginal corneal degeneration. J Cataract Refract Surg. 2008;34:1928-34. Can J Ophthalmol 2013;48:e142–e144 0008-4182/13/$-see front matter & 2013 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.jcjo.2013.05.020
secondary infection. The neonatologists maintained his electrolyte balance, applied emollients, and kept him in an incubator with sufficient humidification. After obtaining an informed consent, direct DNA sequencing of the TGM1 gene was performed. All 15 exons were amplified using the primers previously described. Polymerase chain reaction amplicons were bidirectionally sequenced with the Big Dye terminator v3.1 cycle sequencing kit (Applied Biosystems, Foster City, CA), using the ABI PRISM 3100 Genetic Analyzer (Applied Biosystems). RefSeq ID: NM_032034.2 was used for cDNA nucleotide numbering. He was a compound heterozygote with splicing (c.1160-2A4C, IVS72A4C) and missense (c.424C4T, R142C) mutations of TGM1 (Fig. 2). c.1160-2A4C mutation is a novel splicing mutation that has not been previously reported. Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization, characterized mainly by abnormal skin scaling over the whole body, which includes lamellar ichthyosis (LI; OMIM 242300), congenital ichthyosiform erythroderma (CIE;
CAN J OPHTHALMOL — VOL. 48, NO. 6, DECEMBER 2013
