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Juvenile Open Angle Glaucoma with Non Bullous Congenital Ichthyosiform Erythroderma

Ichhpujani, Parul, MS*; Thakur, Sahil, MBBS*; Kumar, Suresh, MS*; Singh, Rohan Bir, MBBS

doi: 10.1097/IJG.0000000000001016
Case Report/Small Case Series: PDF Only

Introduction: Glaucoma in patients with Non Bullous Congenital Ichthyosiform Erythroderma (NBCIE) is a rare entity that has not been described in a histologically confirmed case. We present a unique case of coexisting glaucoma, ichthyosis and dwarfism that has not been previously described.

Methods: We present a case of NBCIE with glaucoma and dwarfism that presented to our outpatient department. The patient was referred for watering and photophobia that were due to an epithelial defect that was subsequently managed conservatively. Investigations revealed the existence of a constellation of findings that are presented here.

Results: NBCIE, glaucoma and dwarfism represent a spectrum of diseases that seem to have a syndromic association. More gene linkage based analysis are however needed to further confirm our observations.

Conclusion: NBCIE, glaucoma and dwarfism can often occur together and need to be assessed and managed individually. Early diagnosis of this spectrum can help improve patient management and quality of life. Dermatologists must get an ocular examination done for icthyoses patients.

*Department of Ophthalmology, Government Medical College and Hospital, Sector-32, Chandigarh, India

Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston MA 02114, USA

NO FINANCIAL DISCLOSURES

Disclosure: The authors declare no conflict of interest.

Reprints: Parul Ichhpujani, MS, Department of Ophthalmology, Government Medical College and Hospital, Sector-32, Chandigarh, India (e-mail: parul77@rediffmail.com).

Received May 14, 2018

Accepted June 18, 2018

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