Journal of Current Glaucoma Practice

Register      Login

VOLUME 15 , ISSUE 2 ( May-August, 2021 ) > List of Articles

CASE REPORT

Neonatal Onset Glaucoma in a Case with Gorlin–Goltz Syndrome: An Unusual Association

AB Tefon Arıbaş, Zeynep Aktas, Şengül Özdek

Keywords : Coloboma, Glaucoma, Gorlin–Goltz Syndrome

Citation Information : Arıbaş AT, Aktas Z, Özdek Ş. Neonatal Onset Glaucoma in a Case with Gorlin–Goltz Syndrome: An Unusual Association. J Curr Glaucoma Pract 2021; 15 (2):99-101.

DOI: 10.5005/jp-journals-10078-1308

License: CC BY-NC 4.0

Published Online: 30-09-2021

Copyright Statement:  Copyright © 2021; The Author(s).


Abstract

Aim and objective: To report a unique presentation of Gorlin–Goltz syndrome (GGS) with congenital glaucoma. Materials and methods: We report a case of a 3-month-old female patient with bilateral uncontrolled intraocular pressures (IOP), who was already diagnosed with GGS. Examination under anesthesia demonstrated microcornea, iris coloboma, lens subluxation in both eyes, and edematous cornea in the left eye. Intraocular pressure was 17 mm Hg in OD and 35 mm Hg in OS with Icare (Icare® PRO) tonometer on repetitive measurements. On dilated fundus examination, a large chorioretinal coloboma was seen on both eyes. Results: On physical examination, cutaneous, dental, and skeletal anomalies associated with the GGS were found. As previously reported ocular abnormalities associated with the GGS; coloboma and microphthalmia were noted. In addition, congenital glaucoma which is not one of the known associations of GGS was also detected. For treatment, 270° transscleral diode cyclophotoablation was performed for the left eye and medical treatment was reorganized for both eyes. Conclusion: Neonatal-onset glaucoma might be one of the important ocular manifestations of GGS.


HTML PDF Share
  1. Bostwick B, Fang P, Patel A, et al. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet C Semin Med Genet 2016;172C(1):9–20. DOI: 10.1002/ajmg.c.31473.
  2. Bharani S, Thakkar S. A case report of focal dermal hypoplasia-Goltz syndrome. Indian Dermatol Online J 2013;4(3):241–243. DOI: 10.4103/2229-5178.115535.
  3. Jarisch W. Zur lehre von den hautgeschwulsten. Archiv für Dermatologie und Syphilis 1894;28(1):163–165. DOI: 10.1007/BF01843725.
  4. White JC. Multiple benign cystic ephiteliomata. J Cutan Dis 1894;12:477–481.
  5. Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med 1960;262(18):908–912. DOI: 10.1056/NEJM196005052621803.
  6. Chandran S, Marudhamuthu K, Riaz R, et al. Odontogenic keratocysts in Gorlin-Goltz syndrome: a case report. J Int Oral Health 2015;7(Suppl 1):76–79.
  7. Ramesh M, Krishnan R, Chalakkal P, et al. Gorlin-Goltz syndrome: case report and literature review. J Oral Maxillofac Pathol 2015;19(2):267. DOI: 10.4103/0973-029X.164557.
  8. Goltz RW, Henderson RR, Hitch JM, et al. Focal dermal hypoplasia syndrome. A review of the literature and report of two cases. Arch Dermatol 1970;101(1):1–11. DOI: 10.1001/archderm.1970.04000010003001.
  9. Thomas JV, Yoshizumi MO, Beyer CK, et al. Ocular manifestations of focal dermal hypoplasia syndrome. Arch Ophthalmol 1977;95(11):1997–2001. DOI: 10.1001/archopht.1977.04450110091009.
  10. Prenner JL, Ciaccia S, Capone A, et al. Retinal detachment in focal dermal hypoplasia. Eur J Ophthalmol 2004;14(2):166–168. DOI: 10.1177/112067210401400216.
  11. Tenkir A, Teshome S. Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report. BMC Ophthalmol 2010;10(1):28. DOI: 10.1186/1471-2415-10-28.
  12. Young MP, Sawyer BL, Hartnett ME. Ophthalmologic findings in an 18-monthold boy with focal dermal hypoplasia. J AAPOS 2014;18(2):205–207. DOI: 10.1016/j.jaapos.2013.11.015.
  13. Moramarco A, Himmelblau E, Miraglia E, et al. Ocular manifestations in Gorlin-Goltz syndrome. Orphanet J Rare Dis 2019;14(1):218. DOI: 10.1186/s13023-019-1190-6.
  14. Taylor SF, Cook AE, Leatherbarrow B. Review of patients with basal cell nevus syndrome. Ophthalmic Plast Reconstr Surg 2006;22(4):259–265. DOI: 10.1097/01.iop.0000225421.60264.68.
  15. Lasocki AL, Stark Z, Orchard D. A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient. Australas J Dermatol 2011;52(1):48–51. DOI: 10.1111/j.1440-0960.2010.00662.x.
  16. Gisseman JD, Herce HH. Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): a case series of 18 patients. Am J Med Genet C Semin Med Genet 2016;172C(1):59–63. DOI: 10.1002/ajmg.c.31480.
  17. Wiggins RE, Tomey KF. The results of glaucoma surgery in aniridia. Arch Ophthalmol 1992;110(4):503–505. DOI: 10.1001/archopht.1992.01080160081036.
  18. Tesser PM. An iris coloboma preventing pigmentary glaucoma. Arch Ophthalmol 2003;121(7):1055–1056. DOI: 10.1001/archopht.121.7.1055.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.