Correspondence
Bilateral retinal detachment in Seckel syndrome Seckel syndrome, a rare inherited disorder characterized by severe psychophysical deficiency and unique physiognomy, was first described by Seckel in 1960.1 The prevalence of this condition is lower than 1:1000000. It is inherited in an autosomal recessive manner. Owing to its typical features, such as high-grade dwarfism, bird-head profile, multiple skeletal and cortical malformations, and intellectual disability,2–5 Seckel syndrome is sometimes referred to as “bird-headed dwarfism.” Seckel syndrome is rarely associated with ocular findings. The sporadically reported ocular abnormalities include severe myopia and astigmatism, telecanthus, narrow palpebral fissures, wideset eyes with alternative strabismus, incomplete eyebrows, bilateral ptosis, microphthalmos, megalocornea, dislocation of lenses, glaucoma, and retinal abnormalities.6–9 We report 2 cases of female siblings with Seckel syndrome (Fig. 1) presenting ocular changes including cataract, lens subluxation, and chorioretinal degenerations, as well as retinal detachment.
PATIENT 1 A 22-year-old female was referred for ophthalmologic evaluation to the Outpatient Clinic of Wroclaw Medical University. Difficulties with performing everyday activities, suggesting that the patient did not see nearby objects including stairs and doors, were suddenly noticed by her mother. Physical abnormalities, apparent on initial examination, included incomplete eyebrows, epicanthus, and convergent strabismus of the right eye. It was not possible to assess visual acuity or refraction or to perform slit-lamp
examination. Eventually, we performed ophthalmic examination under general anaesthesia, finding bilateral cataract and proliferative vitreoretinopathy (PVR) with bilateral rhegmatogenous retinal detachment. On the basis of these findings, the patient was diagnosed with C3 grade rhegmatogenous retinal detachment with marked PVR. Surgical treatment addressed pathologic findings in both eyes: first the left eye (August 2010), and after 3 weeks the right eye (September 2010). The surgical procedure was the same for both eyes and consisted of 1-step phacoemulsification, combined with artificial lens implantation and pars plana vitrectomy with silicone oil (1000 centistoke viscosity) endotamponade. Vitreous surgery was performed with a 20-gauge, 3-port vitrectomy system. After central vitreous removal and epiretinal membrane peeling, the patient underwent 3601 vitreous base shaving under scleral depression to remove all vitreous traction on retinal tears and degeneration areas. Because of extensive chorioretinal degeneration in long, radial, retinal tears, the endolaser treatment and cryoapplication of the retina were performed in both eyes intraoperatively. Exchange of fluid–air and air–silicone oil (1000 centistoke viscosity) was conducted. Sclerotomies and conjunctiva were closed with sutures. Because of the severity of the condition and the patient’s self-aggressive behaviour, we decided to leave oil endotamponade in both eyes. Regular postoperative ophthalmologic follow-up found that the patient’s vision has been preserved. We were unable to make the final refraction; however, owing to silicone oil presence, this examination could have been unreliable. The most recent follow-up examination (April 2012), performed under general anaesthesia, found 14 mm Hg in the right eye and 10 mm Hg in the left eye, pseudophakia, pale optic nerve disc, narrow retinal vessels, no signs of retinal detachment, and numerous retinal laser scars and cryotherapy scars of the posterior pole. No symptoms of silicone oil emulsification or secondary glaucoma were noted.
PATIENT 2
Fig. 1 — Lateral view of the patient’s head.
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The second sister (a 35-year-old female), presenting with severe intellectual disability, was examined under general anaesthesia owing to the lack of ophthalmic documentation. The examination found a complete cataract with lens subluxation in the left eye and atrophy of the right eye with adherent leukoma and cataract. Extracapsular cataract extraction of the left eye without artificial lens implantation was performed in November 2010. In view of the total, funnel-shaped retinal detachment in the left eye, we attempted the 20-gauge pars plana vitrectomy, but the procedure turned out to be unsuccessful because of advanced PVR. To the best of our knowledge, this is the first described case of bilateral retinal detachment in a patient with Seckel
CAN J OPHTHALMOL — VOL. 49, NO. 5, OCTOBER 2014
Correspondence syndrome. A few authors have reported ophthalmic manifestations in Seckel syndrome, among them such retinal findings as macular coloboma, optic nerve hypoplasia, unformed fovea, macular pigment abnormalities, and peripheral retinal atrophies.6,7
Patrycja Krzyżanowska-Berkowska,1 Dorota Szumny,1 Tomasz Młyńczak,1,2 Krystian Kisza,1 Jolanta Oficjalska1 1 2
Wroclaw Medical University, Wroclaw, Poland; Charite´ - Universita¨tsmedizin Berlin, Berlin, Germany
Correspondence to: Dorota Szumny, MD: [email protected],
DISCUSSION
[email protected]
In our opinion, the bilateral retinal detachment observed in the present cases resulted from large retinal breaks formed over peripheral chorioretinal degenerations. Consequently, ophthalmic evaluation should be considered when patients (both children and adults) with genetic disorders begin to experience difficulties with performing everyday activities, even though such patients are difficult to examine and treat without general anaesthesia because of intellectual disability, lack of cooperation, or aggressive behaviour. Patients with Seckel syndrome may experience retinal detachment; therefore, efforts must be made to detect this condition and operate promptly. Such care is of vital importance, because without surgical intervention, retinal detachment may lead to irreversible blindness. Bilateral retinal detachment may be associated with Seckel syndrome; therefore, in some patients, upon suspicion of visual loss, ophthalmic examination and prompt surgery are recommended if necessary to preserve vision. This report, addressed to both ophthalmologists and general practitioners, emphasizes the role of early intervention in patients with Seckel syndrome who experience difficulties in performing activities of daily living because of the presence of visual disorders.
REFERENCES 1. Capovilla G, Lorenzetti ME, Montagnini A, et al. Seckel’s syndrome and malformations of cortical development: report of three new cases and review of the literature J Child Neurol. 2001;16:382-6. 2. Di Blasi S, Belvedere M, Pintacuda S, et al. Seckel’s syndrome: a case report. J Med. 1993;24:75-96. 3. Fathizadeh A, Soltani K, Medenica M, Lorincz AL. Pigmentary changes in Seckel’s syndrome. J Am Acad Dermatol. 1979;1:52-4. 4. Kutlu R, Alkan A, Kutlu O, Yakinci C. Seckel syndrome with polyarteritis nodosa. Indian Pediatr. 2004;41:1158-61. 5. Erdöl H, Aynaci M, Elmas R, Arslan Y, Imamoglu HI. Retinal features in Seckel’s syndrome. J Pediatr Ophthalmol Strabismus. 2003;40:299-301. 6. Guirgis MF, Lam BL, Howard CW. Ocular manifestations of Seckel syndrome. Am J Ophthalmol. 2001;132:596-7. 7. Seider N, Beiran I, Gelfand Y, Shauly Y, Meyer E, Miller B. Dislocation of lenses in Seckel syndrome. J Pediatr Ophthalmol Strabismus. 2002;39:237-8. 8. Aktas Z, Yuksel N, Kula S, Akman A, Hasanreisoglu B. Childhood glaucoma as an ophthalmic manifestation of Seckel syndrome. J Glaucoma. 2013;22:e3-4. 9. Reddy S, Starr C. Seckel syndrome and spontaneously dislocated lenses. J Cataract Refract Surg. 2007;33:910-2. Can J Ophthalmol 2014;49:e130–e131 0008-4182/14/$-see front matter & 2014 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.jcjo.2014.07.013
CAN J OPHTHALMOL — VOL. 49, NO. 5, OCTOBER 2014
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Bilateral retinal detachment in Seckel syndrome Seckel syndrome, a rare inherited disorder characterized by severe psychophysical deficiency and unique physiognomy, was first described by Seckel in 1960.1 The prevalence of this condition is lower than 1:1000000. It is inherited in an autosomal recessive manner. Owing to its typical features, such as high-grade dwarfism, bird-head profile, multiple skeletal and cortical malformations, and intellectual disability,2–5 Seckel syndrome is sometimes referred to as “bird-headed dwarfism.” Seckel syndrome is rarely associated with ocular findings. The sporadically reported ocular abnormalities include severe myopia and astigmatism, telecanthus, narrow palpebral fissures, wideset eyes with alternative strabismus, incomplete eyebrows, bilateral ptosis, microphthalmos, megalocornea, dislocation of lenses, glaucoma, and retinal abnormalities.6–9 We report 2 cases of female siblings with Seckel syndrome (Fig. 1) presenting ocular changes including cataract, lens subluxation, and chorioretinal degenerations, as well as retinal detachment.
PATIENT 1 A 22-year-old female was referred for ophthalmologic evaluation to the Outpatient Clinic of Wroclaw Medical University. Difficulties with performing everyday activities, suggesting that the patient did not see nearby objects including stairs and doors, were suddenly noticed by her mother. Physical abnormalities, apparent on initial examination, included incomplete eyebrows, epicanthus, and convergent strabismus of the right eye. It was not possible to assess visual acuity or refraction or to perform slit-lamp
examination. Eventually, we performed ophthalmic examination under general anaesthesia, finding bilateral cataract and proliferative vitreoretinopathy (PVR) with bilateral rhegmatogenous retinal detachment. On the basis of these findings, the patient was diagnosed with C3 grade rhegmatogenous retinal detachment with marked PVR. Surgical treatment addressed pathologic findings in both eyes: first the left eye (August 2010), and after 3 weeks the right eye (September 2010). The surgical procedure was the same for both eyes and consisted of 1-step phacoemulsification, combined with artificial lens implantation and pars plana vitrectomy with silicone oil (1000 centistoke viscosity) endotamponade. Vitreous surgery was performed with a 20-gauge, 3-port vitrectomy system. After central vitreous removal and epiretinal membrane peeling, the patient underwent 3601 vitreous base shaving under scleral depression to remove all vitreous traction on retinal tears and degeneration areas. Because of extensive chorioretinal degeneration in long, radial, retinal tears, the endolaser treatment and cryoapplication of the retina were performed in both eyes intraoperatively. Exchange of fluid–air and air–silicone oil (1000 centistoke viscosity) was conducted. Sclerotomies and conjunctiva were closed with sutures. Because of the severity of the condition and the patient’s self-aggressive behaviour, we decided to leave oil endotamponade in both eyes. Regular postoperative ophthalmologic follow-up found that the patient’s vision has been preserved. We were unable to make the final refraction; however, owing to silicone oil presence, this examination could have been unreliable. The most recent follow-up examination (April 2012), performed under general anaesthesia, found 14 mm Hg in the right eye and 10 mm Hg in the left eye, pseudophakia, pale optic nerve disc, narrow retinal vessels, no signs of retinal detachment, and numerous retinal laser scars and cryotherapy scars of the posterior pole. No symptoms of silicone oil emulsification or secondary glaucoma were noted.
PATIENT 2
Fig. 1 — Lateral view of the patient’s head.
e130
The second sister (a 35-year-old female), presenting with severe intellectual disability, was examined under general anaesthesia owing to the lack of ophthalmic documentation. The examination found a complete cataract with lens subluxation in the left eye and atrophy of the right eye with adherent leukoma and cataract. Extracapsular cataract extraction of the left eye without artificial lens implantation was performed in November 2010. In view of the total, funnel-shaped retinal detachment in the left eye, we attempted the 20-gauge pars plana vitrectomy, but the procedure turned out to be unsuccessful because of advanced PVR. To the best of our knowledge, this is the first described case of bilateral retinal detachment in a patient with Seckel
CAN J OPHTHALMOL — VOL. 49, NO. 5, OCTOBER 2014
Correspondence syndrome. A few authors have reported ophthalmic manifestations in Seckel syndrome, among them such retinal findings as macular coloboma, optic nerve hypoplasia, unformed fovea, macular pigment abnormalities, and peripheral retinal atrophies.6,7
Patrycja Krzyżanowska-Berkowska,1 Dorota Szumny,1 Tomasz Młyńczak,1,2 Krystian Kisza,1 Jolanta Oficjalska1 1 2
Wroclaw Medical University, Wroclaw, Poland; Charite´ - Universita¨tsmedizin Berlin, Berlin, Germany
Correspondence to: Dorota Szumny, MD: [email protected],
DISCUSSION
[email protected]
In our opinion, the bilateral retinal detachment observed in the present cases resulted from large retinal breaks formed over peripheral chorioretinal degenerations. Consequently, ophthalmic evaluation should be considered when patients (both children and adults) with genetic disorders begin to experience difficulties with performing everyday activities, even though such patients are difficult to examine and treat without general anaesthesia because of intellectual disability, lack of cooperation, or aggressive behaviour. Patients with Seckel syndrome may experience retinal detachment; therefore, efforts must be made to detect this condition and operate promptly. Such care is of vital importance, because without surgical intervention, retinal detachment may lead to irreversible blindness. Bilateral retinal detachment may be associated with Seckel syndrome; therefore, in some patients, upon suspicion of visual loss, ophthalmic examination and prompt surgery are recommended if necessary to preserve vision. This report, addressed to both ophthalmologists and general practitioners, emphasizes the role of early intervention in patients with Seckel syndrome who experience difficulties in performing activities of daily living because of the presence of visual disorders.
REFERENCES 1. Capovilla G, Lorenzetti ME, Montagnini A, et al. Seckel’s syndrome and malformations of cortical development: report of three new cases and review of the literature J Child Neurol. 2001;16:382-6. 2. Di Blasi S, Belvedere M, Pintacuda S, et al. Seckel’s syndrome: a case report. J Med. 1993;24:75-96. 3. Fathizadeh A, Soltani K, Medenica M, Lorincz AL. Pigmentary changes in Seckel’s syndrome. J Am Acad Dermatol. 1979;1:52-4. 4. Kutlu R, Alkan A, Kutlu O, Yakinci C. Seckel syndrome with polyarteritis nodosa. Indian Pediatr. 2004;41:1158-61. 5. Erdöl H, Aynaci M, Elmas R, Arslan Y, Imamoglu HI. Retinal features in Seckel’s syndrome. J Pediatr Ophthalmol Strabismus. 2003;40:299-301. 6. Guirgis MF, Lam BL, Howard CW. Ocular manifestations of Seckel syndrome. Am J Ophthalmol. 2001;132:596-7. 7. Seider N, Beiran I, Gelfand Y, Shauly Y, Meyer E, Miller B. Dislocation of lenses in Seckel syndrome. J Pediatr Ophthalmol Strabismus. 2002;39:237-8. 8. Aktas Z, Yuksel N, Kula S, Akman A, Hasanreisoglu B. Childhood glaucoma as an ophthalmic manifestation of Seckel syndrome. J Glaucoma. 2013;22:e3-4. 9. Reddy S, Starr C. Seckel syndrome and spontaneously dislocated lenses. J Cataract Refract Surg. 2007;33:910-2. Can J Ophthalmol 2014;49:e130–e131 0008-4182/14/$-see front matter & 2014 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.jcjo.2014.07.013
CAN J OPHTHALMOL — VOL. 49, NO. 5, OCTOBER 2014
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