Posters

Ocular findings in Haberland syndrome: a case report

Poster Details

First Author: K.Stanienda-Sokoł POLAND

Co Author(s):    M. Wysocka   M. Milka   J. Słoka   D. Dobrowolski   E. Wylęgała        

Abstract Details

Purpose:

The aim is to report the ocular findings in a rare case of Haberland syndrome, demonstrate the importance of an interdisciplinary approach to reduce complications and provide the best possible ophthalmological care, and help in early diagnosis and management of the syndrome related disorders.

Setting:

Department of Ophthalmology, St. Barbara Hospital, Sosnowiec, Poland

Methods:

Haberland syndrome, also known as Encephalocraniocutaneous lipomatosis (ECCL) or Fishman syndrome, is a very rare congenital neurocutaneous disorder of unknown etiology that affects ectomesodermal tissues such as skin, eyes and the central nervous system. In this paper, we present a case of a 12-year-old boy with Haberland syndrome subject to a one-year-long observation at our ophthalmology clinic and describe ophthalmologic symptoms accompanying this particular disease.

Results:

Best corrected visual acuity was 0.3 (RE) and 0.2 (LE). Intraocular pressure as well as colour vision was normal. Examination revealed in both eyes nodular eyelid lesions with additional eyelashes, at upper corneal quadrant conjunctival ingrowth over the cornea, however central cornea was transparent. Right iris was normal, coloboma was visible in left eye. Ophthalmoscopic examination revealed optic discs at the fundus level, maculas with reflexes, visible choroid atrophy of the RE and retinal coloboma in the LE. Retinas were attached. The structure of the conjunctiva overgrowing the cornea was examined in OCT.

Conclusions:

The presented case of Haberland syndrome belongs to the group of so-called rare diseases. Patients affected by this disease require permanent monitoring by various specialists. For the patient, the ophthalmologic treatment consisted of periodic observation and surgical intervention including conjunctival plastics, if needed to improve visual impairment.

Financial Disclosure:

None