PERIPHERAL RETINAL NEOVASCULARIZATION AND RETINAL DETACHMENT IN TURNER SYNDROME Yih-Shiou Hwang, MD, Ken-Kuo Lin, MD, Chi-Chun Lai, MD, Wei-Chi Wu, MD, PHD

Background: Peripheral retinal neovascularization occurs in many diseases, including sickle-cell disease, Eales disease, and sarcoidosis. To our knowledge, combined retinal detachment with peripheral retinal neovascularization has not been reported in the literature. Methods: We examined a 14-year-old girl with Turner syndrome. Total rhegmatogenous retinal detachment and tractional retinal detachment were found in the left eye, and peripheral avascular zone with neovascularization was found in both eyes. The retinal detachment was treated with an encircling scleral buckle. Subsequent retinal photocoagulation over the avascular zones of both eyes was performed. Results: Retinal neovascularizations regressed, and the retinal detachment reattached after treatment. Conclusions: Retinal neovascularization, rhegmatogenous retinal detachment, and tractional retinal detachment can be ocular findings associated with Turner syndrome. Retinal photocoagulation over the avascular zone is a possible treatment for neovascularization. RETINAL CASES & BRIEF REPORTS 1:163–164, 2007

From the Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou and Taipei, Chang Gung University, Taiwan, Republic of China.

Vision examination showed mild myopia (-1.25 diopters) in both eyes. The eye alignment was normal. There was no sign of uveitis, but fundus examination showed a retinal avascular zone at the periphery with RN in both eyes (Figs. 1 and 2). There was no aneurysm or peripheral vasculitis, but the left eye had a shallow total RD. This was a tractional type of detachment because a fibrotic band was detected along with the neovascularization. Scleral buckle surgery with cryoretinopexy was performed, and the retina was reattached. Photocoagulation of the avascular zone of the right eye was performed as well. Postoperatively, the RNs regressed, and the leakage stopped. Nine months later, visual acuity was 20/20 in the right eye and 20/70 in the left eye without recurrence of RN.

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urner syndrome is a chromosomal disorder in which phenotypic women have a missing or abnormal X chromosome. Many ocular abnormalities are associated with Turner syndrome, including strabismus, amblyopia, retinal neovascularization (RN),1 and retinal detachments (RDs).2 We describe a patient with Turner syndrome whose ocular findings provided evidence for the possible mechanism of the RD.

Discussion

Case Report

Many ocular abnormalities are associated with Turner syndrome, with strabismus and amblyopia most commonly reported.3,4 Retinal diseases, however, are not frequently mentioned,1,2 and peripheral RN is rare. Sickle cell retinopathy was a concern in our case, but it is very rare in the Chinese5; the results of blood examination were normal in the current case. Eales disease was also suspected, but there was no sign of retinal vasculitis, and results of the tuberculin test were negative. In addition, there were no signs suggesting posterior or intermediate uveitis because the vitreous was clear. Retinopathy of prematurity was ruled out because of her medical history.6

A 14-year-old Chinese girl presented with decreased vision in her left eye. She had undergone chromosomal analysis, and Turner syndrome (45 XO) was confirmed. She had no previous ocular, systemic, or preterm abnormalities. In addition, she did not have a family history of RD or sickle-cell disease. She did not have signs or symptoms of hearing impairment, and results of blood cell examination were normal. Findings of chest radiography were normal, and results of the tuberculin test were also normal. There was no sign of mental retardation. The authors do not have any proprietary interest in this report. Reprint requests: Ken-Kuo Lin, MD, Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou and Taipei, No. 5, Fusing Street, Gueishan Township, Taoyuan County 333, Taiwan, Republic of China; e-mail: [email protected]

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Fig. 1. Fundus photograph of nasal periphery of the left fundus showing a fibrotic band along with the neovascularization adjacent to a retinal detachment.

Although this patient had myopia, a tractional, instead of a rhegmatogenous, RD was found. Even though proliferative vitreoretinopathy and retinal avascularity can develop after long-term rhegmatogenous RDs, this was not the case in our patient because her right eye had an avascular zone without an RD. Familial exudative vitreoretinopathy can present with a fundus picture similar to that of our patient. However, this girl had no family history of exudative vitreoretinopathy. RD has been described in patients with Turner syndrome, but it is rare. Mason and Tasman2 described one case of RD in a 2-week-old baby, but funnel-shaped RDs in both eyes prevented them from determining the RD cause and excluding the possibility of retinopathy of prematurity. Gotoh et al1 reported two cases of monocular RN in Turner syndrome, but these two cases were also in infants. Oxygen therapy had been given to these two infants; therefore, retinopathy of prematurity could not be excluded. Our patient was a 14-year-old girl who had normal vision until this incidence, excluding the possibility of retinopathy of prematurity. Peripheral RN could be seen in both eyes, which is different from monocular RN in the cases of Gotoh et al1 and suggests there may be an underlying genetic abnormality. X-linked recessive inheritance has been described in families with exudative vitreoretinopathy and incontinentia pigmenti, and the retinal abnormalities in patients with these diseases were bilateral as in our case.7 Turner syndrome arises from X-linked genes that escape inactivation. Because of the similarity in the appearance of the retina and vitreous, loss or suppression of unknown special X-linked genes could be the com-

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Fig. 2. Fluorescein angiogram showing the retinal neovascularization with leakage along the border of the avascular zone.

mon mechanism for the anomalies in patients with Turner syndrome. A similar mechanism of X-chromosome mosaicism has been described in male patients with incontinentia pigmenti, who could be more severely affected and have higher rates of lethality because of the loss of dilution by lyonization. The RD in our case is special because it had a tractional origin secondary to peripheral avascularity and neovascularization. Other diseases with peripheral proliferative retinopathies are known.6 However, the causal relationship between traction and RD is clearer in this case than in previously reported cases. From our findings, we recommend careful screening of the fundus in patients with Turner syndrome. Retinal ablation by laser photocoagulation can be used to treat the neovascularization before RD develops. Key words: retinal detachment, retinal neovascularization, Turner syndrome. References 1.

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Gotoh M, Yamamoto M, Kawasaki T, et al. Two cases of unilateral retinal neovascularization in Turner syndrome. Am J Ophthalmol 1998;126:144–146. Mason JO III, Tasman W. Turner’s syndrome associated with bilateral retinal detachments. Am J Ophthalmol 1996;122:742–743. Denniston AK, Butler L. Ophthalmic features of Turner’s syndrome. Eye 2004;18:680–684. Chrousos GA, Ross JL, Chrousos G, et al. Ocular findings in Turner syndrome. A prospective study. Ophthalmology 1984; 91:926–928. Chung B, Wong V. Pediatric stroke among Hong Kong Chinese subjects. Pediatrics 2004;114:e206–e212. Jampol LM, Ebroon DA, Goldbaum MH. Peripheral proliferative retinopathies: an update on angiogenesis, etiologies and management. Surv Ophthalmol 1994;38:519–540. Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol 1969;68:578–594.