BILATERAL RETINAL DETACHMENT IN WERNER SYNDROME Mikio Sasoh, MD, Hideyuki Tsukitome, MD, Yoshitsugu Matsui, MD, Motoyasu Furuta, MD, Mineo Kondo, MD
Purpose: To report the development of bilateral retinal detachment in a patient with Werner syndrome. Methods: Retrospective chart review. A 44-year-old woman diagnosed with Werner syndrome developed bilateral retinal detachment. The fundus in both eyes showed patchy chorioretinal atrophy similar to that seen in high myopia, with the retinal detachment limited to the posterior pole. Two weeks after performing vitrectomy in the right eye, vitrectomy was performed in the left eye. Results: After the surgeries, both retinas were reattached. During the surgeries, we observed an excessively liquefied vitreous and a posterior hyaloid membrane that was tightly attached to the retina. The retinal break was located along the superotemporal arcade and over an area of the patchy chorioretinal atrophy in both eyes. The chorioretinal atrophy and vitreous liquefaction appeared to be excessive for the patient’s age and axial lengths (right: 26.66 mm, left: 27.04 mm). Conclusion: Vitreoretinal changes found in this case might have been partially because of the premature aging associated with Werner syndrome. RETINAL CASES & BRIEF REPORTS 8:92–94, 2014
From the Department of Ophthalmology, Mie University School of Medicine, Tsu Mie, Japan.
Case Report A 44-year-old woman had decreased visual acuity in her right eye. The patient’s medical history included diabetes mellitus, hypertension, hyperlipidemia, bone fracture due to osteoporosis, and lung cancer. In addition, her younger brother was also diagnosed as having Werner syndrome. Ophthalmologically, she underwent bilateral lensectomy for cataract 18 years ago, and secondary glaucoma subsequently developed in both eyes. The patient appeared older than her actual age, with a bird-like face, skin atrophy, thin scalp hair, calcification in her Achilles tendon, and a high-pitched voice. The fundus in the right eye showed patchy chorioretinal atrophy similar to that seen in high myopia, with the retinal detachment limited to the posterior pole (Figure 1). We were unable to detect any retinal breaks because of extreme miosis. The patient underwent a 23-gauge pars plana vitrectomy including complete peeling of the posterior hyaloids membrane with the help of triamcinolone acetate, photocoagulation around the break, and 20% sulfur hexafluoride (SF6 ) gas injection. Excessive liquefaction of the vitreous and a tight attachment of the posterior hyaloid membrane to the retina were observed during the procedure (Figure 2). The retinal break was located along the superotemporal arcade and over the area of patchy chorioretinal atrophy (Figure 2). Although there was reattachment of the retina in the right eye after the procedure, retinal detachment occurred in the left eye 2 weeks after the surgery. As the features and status of the retinal detachment in the left eye closely resembled those in the right eye, we used almost the same procedures during the surgery in the left eye. At 6 months
W
erner syndrome is a rare disorder characterized by premature aging. In this syndrome, cataract, bleb formation, and bullous keratopathy after cataract surgery are common ocular complications because of premature aging and impaired wound healing.1–3 However, in the posterior segment of eyes, very few complications associated with Werner syndrome have ever been reported probably because of a reduced life span. In one of the rare cases that did report complications, a patient developed diabetic retinopathy.4 In addition, to the best of our knowledge, there have been no reports on retinal detachments occurring in Werner syndrome. Here, we report a woman who developed bilateral retinal detachments in association with chorioretinal atrophy.
None of the authors have any financial/conflicting interests to disclose. Reprint requests: Mikio Sasoh, MD, Department of Ophthalmology, Mie University School of Medicine, 2-174 Edobashi, Tsu Mie 514-8507, Japan; e-mail: [email protected]
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Fig. 1. A. Preoperative optical coherence tomography (OCT) image of the right eye. B. Preoperative OCT image of the left eye. Both eyes showed retinal detachment that was limited to the posterior pole (arrows, A and B). C. Postoperative OCT image of the right eye. D. Postoperative OCT image of the left eye. After the surgeries, reattachment occurred in both eyes (C and D).
after the original surgeries, the retina in both eyes remains attached. Best-corrected visual acuity was 20/50 in her right and 20/40 in her left eye.
Discussion Diagnostic criteria for Werner syndrome were revised in 2012.5 Consistent with the newest diagnostic criteria, this case exhibited all of six cardinal signs and symptoms, including gray thin hair, cataract (for which this patient underwent surgery at 26 years of age), skin atrophy, calcification in her Achilles tendon, a bird-like face, and a high-pitched voice. These findings confirmed the presence of Werner syndrome in this patient. In this case, two major characteristics were observed in the affected eyes. First, the eyes had severe chorioretinal atrophy, similar to that seen in pathologic myopia, with the causative retinal break of the retinal detachment located along the superotemporal arcade and over the
area of the patchy chorioretinal atrophy. As has been recently reported,6 these findings were characteristic of retinal detachments caused by paravascular linear retinal breaks in pathologic myopia. In this case, however, the axial lengths of the eyes (right: 26.66 mm, left: 27.04 mm) were shorter than those reported in the previous study (mean: 30.00 mm). The second characteristic observed was the tight attachment of the posterior hyaloid membrane to the retina beyond the vascular arcade. In line with the results of a previous study,7 we believe that the hyaloid membrane served as the posterior wall of the enlarged posterior precortical vitreous pocket because of the excessive vitreous liquefaction. In this case, the chorioretinal atrophy and the vitreous liquefaction were much greater than would normally be expected for someone of the patient’s age or with similar axial lengths. In Werner syndrome, the repair of oxidative DNA damage is insufficient because of mutations in the RecQ gene that encodes for a DNA helicase. This genetic instability leads to predisposition to cancer and
Fig. 2. A and B. Intraoperative findings for the right eye. The posterior hyaloid membrane was tightly attached to the retina (small arrowheads in A and B). A flap of the posterior hyaloid membrane, which was visualized by triamcinolone acetate, (small arrow in A and B) was fashioned using vitreous forceps (large arrow in A and B). B. Location of the retinal break (large arrowhead).
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premature aging. In this case, premature aging might have happened not only in the lenses but also in the posterior segment, including the chorioretina and the vitreous. Thus, possible complications in the posterior segment need to be taken into consideration during ophthalmologic evaluations, even in cases of relatively young patients with Werner syndrome. Key words: chorioretinal atrophy, retinal detachment, Werner syndrome. References 1. Dollfus H, Porto F, Caussade P, et al. Ocular manifestations in the inherited DNA repair disorders. Surv Ophthalmol 2003;48:107–122.
2. Rosenthal G, Assa V, Monos T, et al. Werner’s syndrome. Br J Ophthalmol 1996;80:576–577. 3. Moghimi S, Soleimani M, Soltani R. UBM study in spontaneous bleb formation and blebitis after cataract surgery in Werner syndrome. Eye (Lond) 2009;23:1481–1483. 4. Ohbatake Y, Akiyama K, Amemiya T. Two cases of Werner’s syndrome with diabetic retinopathy. Folia Ophthalmol Jpn 1992;43:237–240. 5. Takemoto M, Mori S, Kuzuya M, et al. Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey. Geriatr Gerontol Int 2013;13:475–481. 6. Chen L, Wang K, Esmaili DD, Xu G. Rhegmatogenous retinal detachment due to paravascular linear retinal breaks over patchy chorioretinal atrophy in pathologic myopia. Arch Ophthalmol 2010;128:1551–1554. 7. Kishi S, Shimizu K. Posterior precortical vitreous pocket. Arch Ophthalmol 1990;108:979–982.
Purpose: To report the development of bilateral retinal detachment in a patient with Werner syndrome. Methods: Retrospective chart review. A 44-year-old woman diagnosed with Werner syndrome developed bilateral retinal detachment. The fundus in both eyes showed patchy chorioretinal atrophy similar to that seen in high myopia, with the retinal detachment limited to the posterior pole. Two weeks after performing vitrectomy in the right eye, vitrectomy was performed in the left eye. Results: After the surgeries, both retinas were reattached. During the surgeries, we observed an excessively liquefied vitreous and a posterior hyaloid membrane that was tightly attached to the retina. The retinal break was located along the superotemporal arcade and over an area of the patchy chorioretinal atrophy in both eyes. The chorioretinal atrophy and vitreous liquefaction appeared to be excessive for the patient’s age and axial lengths (right: 26.66 mm, left: 27.04 mm). Conclusion: Vitreoretinal changes found in this case might have been partially because of the premature aging associated with Werner syndrome. RETINAL CASES & BRIEF REPORTS 8:92–94, 2014
From the Department of Ophthalmology, Mie University School of Medicine, Tsu Mie, Japan.
Case Report A 44-year-old woman had decreased visual acuity in her right eye. The patient’s medical history included diabetes mellitus, hypertension, hyperlipidemia, bone fracture due to osteoporosis, and lung cancer. In addition, her younger brother was also diagnosed as having Werner syndrome. Ophthalmologically, she underwent bilateral lensectomy for cataract 18 years ago, and secondary glaucoma subsequently developed in both eyes. The patient appeared older than her actual age, with a bird-like face, skin atrophy, thin scalp hair, calcification in her Achilles tendon, and a high-pitched voice. The fundus in the right eye showed patchy chorioretinal atrophy similar to that seen in high myopia, with the retinal detachment limited to the posterior pole (Figure 1). We were unable to detect any retinal breaks because of extreme miosis. The patient underwent a 23-gauge pars plana vitrectomy including complete peeling of the posterior hyaloids membrane with the help of triamcinolone acetate, photocoagulation around the break, and 20% sulfur hexafluoride (SF6 ) gas injection. Excessive liquefaction of the vitreous and a tight attachment of the posterior hyaloid membrane to the retina were observed during the procedure (Figure 2). The retinal break was located along the superotemporal arcade and over the area of patchy chorioretinal atrophy (Figure 2). Although there was reattachment of the retina in the right eye after the procedure, retinal detachment occurred in the left eye 2 weeks after the surgery. As the features and status of the retinal detachment in the left eye closely resembled those in the right eye, we used almost the same procedures during the surgery in the left eye. At 6 months
W
erner syndrome is a rare disorder characterized by premature aging. In this syndrome, cataract, bleb formation, and bullous keratopathy after cataract surgery are common ocular complications because of premature aging and impaired wound healing.1–3 However, in the posterior segment of eyes, very few complications associated with Werner syndrome have ever been reported probably because of a reduced life span. In one of the rare cases that did report complications, a patient developed diabetic retinopathy.4 In addition, to the best of our knowledge, there have been no reports on retinal detachments occurring in Werner syndrome. Here, we report a woman who developed bilateral retinal detachments in association with chorioretinal atrophy.
None of the authors have any financial/conflicting interests to disclose. Reprint requests: Mikio Sasoh, MD, Department of Ophthalmology, Mie University School of Medicine, 2-174 Edobashi, Tsu Mie 514-8507, Japan; e-mail: [email protected]
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Fig. 1. A. Preoperative optical coherence tomography (OCT) image of the right eye. B. Preoperative OCT image of the left eye. Both eyes showed retinal detachment that was limited to the posterior pole (arrows, A and B). C. Postoperative OCT image of the right eye. D. Postoperative OCT image of the left eye. After the surgeries, reattachment occurred in both eyes (C and D).
after the original surgeries, the retina in both eyes remains attached. Best-corrected visual acuity was 20/50 in her right and 20/40 in her left eye.
Discussion Diagnostic criteria for Werner syndrome were revised in 2012.5 Consistent with the newest diagnostic criteria, this case exhibited all of six cardinal signs and symptoms, including gray thin hair, cataract (for which this patient underwent surgery at 26 years of age), skin atrophy, calcification in her Achilles tendon, a bird-like face, and a high-pitched voice. These findings confirmed the presence of Werner syndrome in this patient. In this case, two major characteristics were observed in the affected eyes. First, the eyes had severe chorioretinal atrophy, similar to that seen in pathologic myopia, with the causative retinal break of the retinal detachment located along the superotemporal arcade and over the
area of the patchy chorioretinal atrophy. As has been recently reported,6 these findings were characteristic of retinal detachments caused by paravascular linear retinal breaks in pathologic myopia. In this case, however, the axial lengths of the eyes (right: 26.66 mm, left: 27.04 mm) were shorter than those reported in the previous study (mean: 30.00 mm). The second characteristic observed was the tight attachment of the posterior hyaloid membrane to the retina beyond the vascular arcade. In line with the results of a previous study,7 we believe that the hyaloid membrane served as the posterior wall of the enlarged posterior precortical vitreous pocket because of the excessive vitreous liquefaction. In this case, the chorioretinal atrophy and the vitreous liquefaction were much greater than would normally be expected for someone of the patient’s age or with similar axial lengths. In Werner syndrome, the repair of oxidative DNA damage is insufficient because of mutations in the RecQ gene that encodes for a DNA helicase. This genetic instability leads to predisposition to cancer and
Fig. 2. A and B. Intraoperative findings for the right eye. The posterior hyaloid membrane was tightly attached to the retina (small arrowheads in A and B). A flap of the posterior hyaloid membrane, which was visualized by triamcinolone acetate, (small arrow in A and B) was fashioned using vitreous forceps (large arrow in A and B). B. Location of the retinal break (large arrowhead).
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premature aging. In this case, premature aging might have happened not only in the lenses but also in the posterior segment, including the chorioretina and the vitreous. Thus, possible complications in the posterior segment need to be taken into consideration during ophthalmologic evaluations, even in cases of relatively young patients with Werner syndrome. Key words: chorioretinal atrophy, retinal detachment, Werner syndrome. References 1. Dollfus H, Porto F, Caussade P, et al. Ocular manifestations in the inherited DNA repair disorders. Surv Ophthalmol 2003;48:107–122.
2. Rosenthal G, Assa V, Monos T, et al. Werner’s syndrome. Br J Ophthalmol 1996;80:576–577. 3. Moghimi S, Soleimani M, Soltani R. UBM study in spontaneous bleb formation and blebitis after cataract surgery in Werner syndrome. Eye (Lond) 2009;23:1481–1483. 4. Ohbatake Y, Akiyama K, Amemiya T. Two cases of Werner’s syndrome with diabetic retinopathy. Folia Ophthalmol Jpn 1992;43:237–240. 5. Takemoto M, Mori S, Kuzuya M, et al. Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey. Geriatr Gerontol Int 2013;13:475–481. 6. Chen L, Wang K, Esmaili DD, Xu G. Rhegmatogenous retinal detachment due to paravascular linear retinal breaks over patchy chorioretinal atrophy in pathologic myopia. Arch Ophthalmol 2010;128:1551–1554. 7. Kishi S, Shimizu K. Posterior precortical vitreous pocket. Arch Ophthalmol 1990;108:979–982.
