Childhood Glaucoma as an Ophthalmic Manifestation of Seckel Syndrome Zeynep Aktas, MD,* Nilay Yuksel, MD,* Serdar Kula, MD,w Ahmet Akman, MD,z and Berati Hasanreisoglu, MD* Purpose: The purpose of the study was to report a patient with Seckel syndrome associated with high intraocular pressures despite intensive antiglaucoma treatment. Methods: Case report. Results: High intraocular pressure readings in both eyes measured with the Goldman applanation tonometer, bilateral pigmentary retinopathy and total cupping of optic discs were found. The patient underwent bilateral trabeculectomy surgery as he had medically uncontrolled glaucoma. Conclusions: Childhood glaucoma may be associated with Seckel syndrome. Key Words: childhood glaucoma, Seckel syndrome, trabeculectomy (J Glaucoma 2013;22:e3–e4) S eckel syndrome is a rare autosomal recessive disorder that occurs in 1 of 10,000 live births and characterized by low birth weight, dwarfism, prenatal onset of marked growth retardation, significant microcephaly, beak-like prominent nose, micrognathia, and mental retardation. 1–5 There are some other pathologies that have been reported to be associated with this rare syndrome such as leukemia, Fanconi anemia, cerebral cortex and corpus callosum defects, and some skeletal defects. 2,4 However, some ophthalmologic manifestations have also been reported in patients with Seckel syndrome and the most common of them are telecanthus, narrow palpebral fissures, and large “bulging” eyes. 5 Other less common ocular associations include hypotelorism, bilateral ptosis, optic nerve hypo- plasia, bilateral optic atrophy, retinal pigment degenera- tions, and megalocornea. 6 We report herein, a patient with Seckel syndrome with medically uncontrolled glaucoma in both eyes requiring surgical intervention. CASE REPORT A boy aged 7 years with intractable glaucoma was referred for trabeculectomy surgery. He has been under topical antiglau- comatous therapy for 6 months. He was born to a consanguineous marriage in the 33rd week of gestation by caesarian section due to fetal distress. His birth weight was 1900 g. His mother’s obstetrical history was negative for any medication taken during pregnancy and autoimmune disease. He had 1 healthy brother and 1 healthy sister. Systemic evaluation revealed bradycardia (45 bpm), hepato- megaly, microcephaly, beaked-nose, malformed ears, and fifth finger clinodactyly (Figs. 1–2). He had a permanent pacemaker due to marked bradycardia with complete atrioventricular block. In contrast, cranial magnetic resonance imaging and abdominal ultrasonography were completely normal. Furthermore, cytoge- netics showed 46 chromosomes in each cell with a karyotypic analysis showing no deviation from the normal (46, XY). On his ocular examination, visual acuity could not have been measured due to severe mental retardation. However, he could fixate and follow a light. Intraocular pressures (IOPs) in both eyes were uncontrolled on maximally tolerated medical therapy and measured as 32 mm Hg OD and 36 mm Hg OS with the Goldman applanation tonometer. Slit lamp examination revealed bilateral horizontal nystagmus and narrow palpebral fissures. Cornea was clear and there was no Haab striae, bilaterally. Vertical and horizontal corneal diameters were measured as 12  12 mm OU. Bilateral fundus examination showed pigmentary retinopathy and total cupping of optic discs in both eyes. To control IOP, biletaral trabeculectomy surgery was performed together with 0.2 mg/mL 2-minute mitomycin-C application. Gonioscopic examination dur- ing surgery revealed open angles in both eyes with normal anatomical properties. No peroperative complications occurred. On postoperative fourth month, IOPs were measured as 16 and 20 mm Hg and there was no ocular complication related to trabeculectomy surgery. DISCUSSION Seckel syndrome is 1 of the rare causes of dwarfism. Syndromes causing dwarfism have various phenotypic presentations including ocular manifestations that sometimes FIGURE 1. Clinodactyly at fifth finger of the patient. Received for publication April 10, 2011; accepted September 12, 2011. From the *Departments of Ophthalmology; wPediatric Cardiology, Gazi University School of Medicine; and zDepartment of Ophthalmology, Baskent University School of Medicine, Ankara, Turkey. Disclosure: The authors declare no conflict of interest. Reprints: Zeynep Aktas, MD, Baris Sitesi, 2112.sok, No: 7 Eskisehir Yolu, Ankara, Turkey (e-mail: drzeynep2000@yahoo.com). Copyright r 2013 by Lippincott Williams & Wilkins DOI:10.1097/IJG.0b013e318237cadf CASE REPORT J Glaucoma  Volume 22, Number 4, April/May 2013 www.glaucomajournal.com | e3