BILATERAL RHEGMATOGENOUS RETINAL DETACHMENT IN SPONDYLOEPIMETAPHYSEAL DYSPLASIA—STRUDWICK TYPE Andrei-Alexandru Szigiato, BSc,* Roxane J. Hillier, BSc, MBChB, FRCOphth, MSc (Clin. Ed),† Rajeev H. Muni, MD, MSc (Clin Epi), FRCSC‡
Purpose: To document the diagnosis and repair of bilateral retinal detachments in a child with spondyloepimetaphyseal dysplasia—Strudwick type, a rare autosomal dominant genetic disorder involving abnormal production of Type II collagen. Methods: Case report. Results: A 13-year-old patient diagnosed with spondyloepimetaphyseal dysplasia—Strudwick type presented with a localized superior temporal retinal detachment in the right eye and a 180° giant retinal tear with an associated macula-off retinal detachment in the left eye. He was highly myopic and had a visual acuity of 20/80 in the right eye and counting fingers in the left eye. He underwent a pars plana vitrectomy in the left eye and laser retinoplexy in the right eye, achieving complete reattachment and/or stabilization of both retinae, with a visual acuity of 20/ 60 in the right eye and 20/100 in the left eye at 3 months postoperatively. Conclusion: Patients with spondyloepimetaphyseal dysplasia—Strudwick type may be at a higher risk of developing myopia, vitreoretinal degeneration, and a subsequent retinal detachment, although the scientific literature provides a loose association between these conditions. Critically, we propose a temporal association between retinal detachment and the onset of puberty in these patients and suggest that a dilated retinal screening examination should be scheduled at around the time of puberty for patients with spondyloepimetaphyseal dysplasia—Strudwick type to detect any asymptomatic retinal pathology. RETINAL CASES & BRIEF REPORTS 9:51–54, 2015
child grows. Spondyloepimetaphyseal dysplasia— Strudwick type is a part of a large heterogeneous family of spondylodysplasias and was first distinguished from spondyloepiphyseal dysplasia congenita (SEDC) in 1978 by McKusick, with additional support provided by a case series of 14 patients documented by Anderson et al.2 The skeletal manifestations of SEMD-S begin with predominantly epiphyseal changes in infancy followed by changes to the metaphyses that occur later in childhood, and distinguish it from SEDC. It can be identified radiographically by the dappling of the metaphyses in the long bones.2 Spondyloepiphyseal dysplasia congenita is also caused by an autosomal dominant mutation in the COL2A1 gene,3 which
From the *Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada; †Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom; and ‡Department of Ophthalmology, St Michael’s Hospital, Toronto, Ontario, Canada.
S
pondyloepimetaphyseal dysplasia—Strudwick type (SEMD-S) is a rare autosomal dominant disorder in which the COL2A1 gene is mutated at locus 12q13, affecting the production of Type II collagen, as found in cartilage and the vitreous humor.1 Physical signs characterizing this disorder include short limbs and trunk, cleft palate at birth, reduced stature, waddling gait, genu valgum, and lumbar lordosis occurring as the
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Fig. 1. Pre- and postoperative color fundus photos (left eye), A. Giant retinal tear extending from 9 to 5 o’clock position with retinal detachment involving the central macula at presentation. B. Complete retinal reattachment at 11 weeks after surgical intervention (pars plana vitrectomy, laser, and gas tamponade).
results in similar skeletal features as SEMD-S and is associated with high myopia, retinal degeneration, and retinal detachment.4 The frequency of retinal detachment in SEDC varies between published case series; one study found it occurred as often as 8 in 14 cases,5 whereas another paper showed 8 patients with severe myopia, but no retinal detachment in 18 cases of wellestablished SEDC.3 Data on ocular manifestations for SEMD-S are sparse, with little to no information published on the rates of retinal detachment in this disorder (Figure 1). The most common of the skeletal dysplasias to have ocular involvement is Stickler syndrome, a group of collagenopathies which can involve Type II, IX, and XI collagens.6 Type I Stickler syndrome is the most common form of skeletal dysplasia to be seen by an ophthalmologist and is also caused by a mutation in the COL2A1 gene, resulting in membranous congential vitreous anomaly, congenital megalophthalmos, deafness, arthropathy, and cleft palate.7 An ocular only variant of Stickler syndrome can also occur, with a COL2A1 mutation that results in membranous vitreous anomalies but no systemic skeletal signs. There is limited data on the prevalence of this condition, but Types I and II Stickler syndromes are estimated to occur in 1:10,000 people.8,9 Of particular concern is the high incidence of rhegmatogenous retinal detachment, occurring in over 70% of patients
with Type I Stickler syndrome and bilaterally in almost half of these.10 We report the case of a patient with SEMD-S who presented with bilateral rhegmatogenous retinal detachments at the time of puberty (Figure 2). Case Report A 13-year-old boy with SEMD-S presented with a 3-day history of a visual field defect in the left eye. He reported floaters in both eyes since early childhood. His best-corrected visual acuity was 20/80 and counting fingers in the right and left eyes, respectively. On refraction, he was found to be highly myopic in both eyes (−17.00 diopters spherical equivalent). Anterior segment examination was unremarkable bilaterally. On fundal examination, there was a localized superior temporal retinal detachment associated with an atrophic hole in the right eye. In the left eye, there was a 180° giant retinal tear with an associated macula-off retinal detachment and signs of early proliferative vitreoretinopathy. A 23-G pars plana vitrectomy was performed in the left eye, with perfluoro-n-octane, endolaser, air–fluid exchange, and perfluoropropane gas. Laser retinopexy was applied around the localized retinal detachment in the right eye. Postoperatively, stabilization of the right eye and complete reattachment of the retina in the left eye were achieved (Figure 1). At 3 months postoperatively, the visual acuity was 20/60 in the right eye and 20/100 in the left eye. Genetic analysis confirmed a mutation of the COL2A1 gene at locus 12q13 in this child. Examination and genetic analysis of the parents and siblings were negative, consistent with a de novo gene mutation. Radiographs of the axial and appendicular skeleton revealed changes consistent with a spondyloepimetaphyseal dysplasia (Figure 2).
Discussion None of the authors have any financial/conflicting interests to disclose. A. A. Szigiato performed a literature review and drafted the manuscript. R. J. Hillier managed the case and revised the manuscript critically for important intellectual content. R. H. Muni managed the case, supervised the case, and revised the manuscript critically for important intellectual content. Reprint requests: Rajeev H. Muni, MD, MSc (Clin Epi), FRCSC, Department of Ophthalmology, St Michael’s Hospital, Suite 801-61 Queen Street East, Toronto, Ontario M5C 2T2, Canada; e-mail: [email protected]
A loosely defined association between myopia, vitreoretinal degeneration, and retinal detachment occurring in patients with spondylodysplasias, including SEMD-S, has been recognized in the scientific literature.3,5,11 However, the timing of the onset and clinical features of retinal detachments occurring in this unique group of high-risk pediatric patients have not been detailed. This is the first case report to
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RETINAL DETACHMENT IN STRUDWICK-TYPE SEMD
Fig. 2. Radiographs of the axial and appendicular skeleton (child aged 2 years). A. The thoracolumbar spine demonstrates a lucent cleft within the left pedicle of T6 and subtle end plate irregularities involving numerous thoracic vertebrae. There is extreme lumbosacral lordosis. B. Upper and lower limbs. Subtle linear lucencies are present within the metaphyses of all long bones, especially prominent at the knee and shoulder (closed arrowhead). Ossification center not visible in the right femoral head (open arrowhead).
document the clinical course of a patient with SEMD-S presenting with bilateral retinal detachment. A key aspect of this case is the observation that this patient with SEMD-S presented with bilateral retinal detachments at the time of puberty. In this case, the timely identification of a subclinical retinal detachment in the right eye at presentation facilitated preventative intervention to this eye. The timing of this presentation is unlikely to represent a coincidence. Myopia is a known risk factor for retinal detachment in the general pediatric population, with progression of myopia being temporally associated with growth spurts in healthy children.12 Furthermore, several authors have observed that pediatric retinal detachment presentations tend to cluster at or around the time of puberty.13–16 A published series of 12 young patients with SEDC identified that the 3 patients who experienced bilateral retinal detachments did so at the time of puberty.17 The mechanism remained unclear, but the authors hypothesize that rapidly progressing myopia combined with increased physical activity during this period of development may have predisposed to retinal detachment. We suggest that physicians caring for children with SEMD-S should inform patients and their families of the potential association with ocular disease, and give specific instructions to report if acute vitreoretinal symptoms occur. Furthermore, we suggest that dilated retinal screening examination should be scheduled at around the time of puberty for patients with SEMD-S, to enable detection, monitoring and/or treatment of any asymptomatic sight-threatening retinal pathology.
Key words: giant retinal tear, rhegmatogenous retinal detachment, spondyloepimetaphysial dysplasia, Strudwick type. References 1. Tiller GE, Polumbo PA, Weis MA, et al. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, strudwick type. Nat Genet 1995;11:87–89. 2. Anderson CE, Sillence DO, Lachman RS, et al. Spondylometepiphyseal dysplasia, strudwick type. Am J Med Genet 1982;13:243–256. 3. Hamidi-Toosi S, Maumenee IH. Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita. Arch Ophthalmol 1982;100:1104–1107. 4. Anderson IJ, Goldberg RB, Marion RW, et al. Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI). Am J Hum Genet 1990;46:896–901. 5. Spranger JW, Langer LO Jr. Spondyloepiphyseal dysplasia congenita. Radiology 1970;94:313–322. 6. Carroll C, Papaioannou D, Rees A, Kaltenthaler E. The clinical effectiveness and safety of prophylactic retinal interventions to reduce the risk of retinal detachment and subsequent vision loss in adults and children with Stickler syndrome: a systematic review. Health Technol Assess 2011;15:iii-xiv, 1-62. 7. Ang A, Poulson AV, Goodburn SF, et al. Retinal detachment and prophylaxis in type 1 Stickler syndrome. Ophthalmology 2008;115:164–168. 8. Webb AC, Markus AF. The diagnosis and consequences of Stickler syndrome. Br J Oral Maxillofac Surg 2002;40:49–51. 9. Vandenberg P. Molecular basis of heritable connective tissue disease. Biochem Med Metab Biol 1993;49:1–12. 10. Ang A, Poulson AV, Goodburn SF, et al. Retinal detachment and prophylaxis in type 1 Stickler syndrome. Ophthalmology 2008;115:164–168. 11. Cormier-Daire V. Spondylo-epi-metaphyseal dysplasia. Best Pract Res Clin Rheumatol 2008;22:33–44.
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12. Yip VC, Pan CW, Lin XY, et al. The relationship between growth spurts and myopia in Singapore children. Invest Ophthalmol Vis Sci 2012;53:7961–7966. 13. Weinberg DV, Lyon AT, Greenwald MJ, Mets MB. Rhegmatogenous retinal detachments in children: risk factors and surgical outcomes. Ophthalmology 2003;110:1708–1713. 14. Wadhwa N, Venkatesh P, Sampangi R, Garg S. Rhegmatogenous retinal detachments in children in India: clinical characteristics, risk factors, and surgical outcomes. J AAPOS 2008;12:551–554.
15. Soheilian M, Ramezani A, Malihi M, et al. Clinical features and surgical outcomes of pediatric rhegmatogenous retinal detachment. Retina 2009;29:545–551. 16. Wenick AS, Barañano DE. Evaluation and management of pediatric rhegmatogenous retinal detachment. Saudi J Ophthalmol 2012;26:255–263. 17. Ikegawa S, Iwaya T, Taniguchi K, et al. Retinal detachment in spondyloepiphyseal dysplasia congenita. J Pediatr Orthop 1993;13:791–792.
Purpose: To document the diagnosis and repair of bilateral retinal detachments in a child with spondyloepimetaphyseal dysplasia—Strudwick type, a rare autosomal dominant genetic disorder involving abnormal production of Type II collagen. Methods: Case report. Results: A 13-year-old patient diagnosed with spondyloepimetaphyseal dysplasia—Strudwick type presented with a localized superior temporal retinal detachment in the right eye and a 180° giant retinal tear with an associated macula-off retinal detachment in the left eye. He was highly myopic and had a visual acuity of 20/80 in the right eye and counting fingers in the left eye. He underwent a pars plana vitrectomy in the left eye and laser retinoplexy in the right eye, achieving complete reattachment and/or stabilization of both retinae, with a visual acuity of 20/ 60 in the right eye and 20/100 in the left eye at 3 months postoperatively. Conclusion: Patients with spondyloepimetaphyseal dysplasia—Strudwick type may be at a higher risk of developing myopia, vitreoretinal degeneration, and a subsequent retinal detachment, although the scientific literature provides a loose association between these conditions. Critically, we propose a temporal association between retinal detachment and the onset of puberty in these patients and suggest that a dilated retinal screening examination should be scheduled at around the time of puberty for patients with spondyloepimetaphyseal dysplasia—Strudwick type to detect any asymptomatic retinal pathology. RETINAL CASES & BRIEF REPORTS 9:51–54, 2015
child grows. Spondyloepimetaphyseal dysplasia— Strudwick type is a part of a large heterogeneous family of spondylodysplasias and was first distinguished from spondyloepiphyseal dysplasia congenita (SEDC) in 1978 by McKusick, with additional support provided by a case series of 14 patients documented by Anderson et al.2 The skeletal manifestations of SEMD-S begin with predominantly epiphyseal changes in infancy followed by changes to the metaphyses that occur later in childhood, and distinguish it from SEDC. It can be identified radiographically by the dappling of the metaphyses in the long bones.2 Spondyloepiphyseal dysplasia congenita is also caused by an autosomal dominant mutation in the COL2A1 gene,3 which
From the *Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada; †Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom; and ‡Department of Ophthalmology, St Michael’s Hospital, Toronto, Ontario, Canada.
S
pondyloepimetaphyseal dysplasia—Strudwick type (SEMD-S) is a rare autosomal dominant disorder in which the COL2A1 gene is mutated at locus 12q13, affecting the production of Type II collagen, as found in cartilage and the vitreous humor.1 Physical signs characterizing this disorder include short limbs and trunk, cleft palate at birth, reduced stature, waddling gait, genu valgum, and lumbar lordosis occurring as the
51
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RETINAL CASES & BRIEF REPORTS´ 2015 VOLUME 9 NUMBER 1
Fig. 1. Pre- and postoperative color fundus photos (left eye), A. Giant retinal tear extending from 9 to 5 o’clock position with retinal detachment involving the central macula at presentation. B. Complete retinal reattachment at 11 weeks after surgical intervention (pars plana vitrectomy, laser, and gas tamponade).
results in similar skeletal features as SEMD-S and is associated with high myopia, retinal degeneration, and retinal detachment.4 The frequency of retinal detachment in SEDC varies between published case series; one study found it occurred as often as 8 in 14 cases,5 whereas another paper showed 8 patients with severe myopia, but no retinal detachment in 18 cases of wellestablished SEDC.3 Data on ocular manifestations for SEMD-S are sparse, with little to no information published on the rates of retinal detachment in this disorder (Figure 1). The most common of the skeletal dysplasias to have ocular involvement is Stickler syndrome, a group of collagenopathies which can involve Type II, IX, and XI collagens.6 Type I Stickler syndrome is the most common form of skeletal dysplasia to be seen by an ophthalmologist and is also caused by a mutation in the COL2A1 gene, resulting in membranous congential vitreous anomaly, congenital megalophthalmos, deafness, arthropathy, and cleft palate.7 An ocular only variant of Stickler syndrome can also occur, with a COL2A1 mutation that results in membranous vitreous anomalies but no systemic skeletal signs. There is limited data on the prevalence of this condition, but Types I and II Stickler syndromes are estimated to occur in 1:10,000 people.8,9 Of particular concern is the high incidence of rhegmatogenous retinal detachment, occurring in over 70% of patients
with Type I Stickler syndrome and bilaterally in almost half of these.10 We report the case of a patient with SEMD-S who presented with bilateral rhegmatogenous retinal detachments at the time of puberty (Figure 2). Case Report A 13-year-old boy with SEMD-S presented with a 3-day history of a visual field defect in the left eye. He reported floaters in both eyes since early childhood. His best-corrected visual acuity was 20/80 and counting fingers in the right and left eyes, respectively. On refraction, he was found to be highly myopic in both eyes (−17.00 diopters spherical equivalent). Anterior segment examination was unremarkable bilaterally. On fundal examination, there was a localized superior temporal retinal detachment associated with an atrophic hole in the right eye. In the left eye, there was a 180° giant retinal tear with an associated macula-off retinal detachment and signs of early proliferative vitreoretinopathy. A 23-G pars plana vitrectomy was performed in the left eye, with perfluoro-n-octane, endolaser, air–fluid exchange, and perfluoropropane gas. Laser retinopexy was applied around the localized retinal detachment in the right eye. Postoperatively, stabilization of the right eye and complete reattachment of the retina in the left eye were achieved (Figure 1). At 3 months postoperatively, the visual acuity was 20/60 in the right eye and 20/100 in the left eye. Genetic analysis confirmed a mutation of the COL2A1 gene at locus 12q13 in this child. Examination and genetic analysis of the parents and siblings were negative, consistent with a de novo gene mutation. Radiographs of the axial and appendicular skeleton revealed changes consistent with a spondyloepimetaphyseal dysplasia (Figure 2).
Discussion None of the authors have any financial/conflicting interests to disclose. A. A. Szigiato performed a literature review and drafted the manuscript. R. J. Hillier managed the case and revised the manuscript critically for important intellectual content. R. H. Muni managed the case, supervised the case, and revised the manuscript critically for important intellectual content. Reprint requests: Rajeev H. Muni, MD, MSc (Clin Epi), FRCSC, Department of Ophthalmology, St Michael’s Hospital, Suite 801-61 Queen Street East, Toronto, Ontario M5C 2T2, Canada; e-mail: [email protected]
A loosely defined association between myopia, vitreoretinal degeneration, and retinal detachment occurring in patients with spondylodysplasias, including SEMD-S, has been recognized in the scientific literature.3,5,11 However, the timing of the onset and clinical features of retinal detachments occurring in this unique group of high-risk pediatric patients have not been detailed. This is the first case report to
53
RETINAL DETACHMENT IN STRUDWICK-TYPE SEMD
Fig. 2. Radiographs of the axial and appendicular skeleton (child aged 2 years). A. The thoracolumbar spine demonstrates a lucent cleft within the left pedicle of T6 and subtle end plate irregularities involving numerous thoracic vertebrae. There is extreme lumbosacral lordosis. B. Upper and lower limbs. Subtle linear lucencies are present within the metaphyses of all long bones, especially prominent at the knee and shoulder (closed arrowhead). Ossification center not visible in the right femoral head (open arrowhead).
document the clinical course of a patient with SEMD-S presenting with bilateral retinal detachment. A key aspect of this case is the observation that this patient with SEMD-S presented with bilateral retinal detachments at the time of puberty. In this case, the timely identification of a subclinical retinal detachment in the right eye at presentation facilitated preventative intervention to this eye. The timing of this presentation is unlikely to represent a coincidence. Myopia is a known risk factor for retinal detachment in the general pediatric population, with progression of myopia being temporally associated with growth spurts in healthy children.12 Furthermore, several authors have observed that pediatric retinal detachment presentations tend to cluster at or around the time of puberty.13–16 A published series of 12 young patients with SEDC identified that the 3 patients who experienced bilateral retinal detachments did so at the time of puberty.17 The mechanism remained unclear, but the authors hypothesize that rapidly progressing myopia combined with increased physical activity during this period of development may have predisposed to retinal detachment. We suggest that physicians caring for children with SEMD-S should inform patients and their families of the potential association with ocular disease, and give specific instructions to report if acute vitreoretinal symptoms occur. Furthermore, we suggest that dilated retinal screening examination should be scheduled at around the time of puberty for patients with SEMD-S, to enable detection, monitoring and/or treatment of any asymptomatic sight-threatening retinal pathology.
Key words: giant retinal tear, rhegmatogenous retinal detachment, spondyloepimetaphysial dysplasia, Strudwick type. References 1. Tiller GE, Polumbo PA, Weis MA, et al. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, strudwick type. Nat Genet 1995;11:87–89. 2. Anderson CE, Sillence DO, Lachman RS, et al. Spondylometepiphyseal dysplasia, strudwick type. Am J Med Genet 1982;13:243–256. 3. Hamidi-Toosi S, Maumenee IH. Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita. Arch Ophthalmol 1982;100:1104–1107. 4. Anderson IJ, Goldberg RB, Marion RW, et al. Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI). Am J Hum Genet 1990;46:896–901. 5. Spranger JW, Langer LO Jr. Spondyloepiphyseal dysplasia congenita. Radiology 1970;94:313–322. 6. Carroll C, Papaioannou D, Rees A, Kaltenthaler E. The clinical effectiveness and safety of prophylactic retinal interventions to reduce the risk of retinal detachment and subsequent vision loss in adults and children with Stickler syndrome: a systematic review. Health Technol Assess 2011;15:iii-xiv, 1-62. 7. Ang A, Poulson AV, Goodburn SF, et al. Retinal detachment and prophylaxis in type 1 Stickler syndrome. Ophthalmology 2008;115:164–168. 8. Webb AC, Markus AF. The diagnosis and consequences of Stickler syndrome. Br J Oral Maxillofac Surg 2002;40:49–51. 9. Vandenberg P. Molecular basis of heritable connective tissue disease. Biochem Med Metab Biol 1993;49:1–12. 10. Ang A, Poulson AV, Goodburn SF, et al. Retinal detachment and prophylaxis in type 1 Stickler syndrome. Ophthalmology 2008;115:164–168. 11. Cormier-Daire V. Spondylo-epi-metaphyseal dysplasia. Best Pract Res Clin Rheumatol 2008;22:33–44.
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12. Yip VC, Pan CW, Lin XY, et al. The relationship between growth spurts and myopia in Singapore children. Invest Ophthalmol Vis Sci 2012;53:7961–7966. 13. Weinberg DV, Lyon AT, Greenwald MJ, Mets MB. Rhegmatogenous retinal detachments in children: risk factors and surgical outcomes. Ophthalmology 2003;110:1708–1713. 14. Wadhwa N, Venkatesh P, Sampangi R, Garg S. Rhegmatogenous retinal detachments in children in India: clinical characteristics, risk factors, and surgical outcomes. J AAPOS 2008;12:551–554.
15. Soheilian M, Ramezani A, Malihi M, et al. Clinical features and surgical outcomes of pediatric rhegmatogenous retinal detachment. Retina 2009;29:545–551. 16. Wenick AS, Barañano DE. Evaluation and management of pediatric rhegmatogenous retinal detachment. Saudi J Ophthalmol 2012;26:255–263. 17. Ikegawa S, Iwaya T, Taniguchi K, et al. Retinal detachment in spondyloepiphyseal dysplasia congenita. J Pediatr Orthop 1993;13:791–792.
