RARE OCULAR MANIFESTATION OF NEUROFIBRAMATOSIS TYPE 1 E-POSTER

AUTHORS Dr. Pranay Singh(PG STUDENT) Dr. Surekha Vidyadhar Bangal (PROFESSOR) Dr. Akshay Bhandari(ASST.PROFESSOR) Dr. Shobhana Jorvekar(ASST.PROFESSOR)

INTRODUCTION Neurofibramatosis is a genetic disorder. It is an autosomal dominant disorder . Two types NF1 and NF 2. NF 1 is due to changes in genes of chromosome 17 while NF 2 is due to changes in chromosome 22. NF1 (Von-Recklinghausen’s disease) is more common than that of NF2. NF1 has a incidence of 1 in 3000 birth while that of NF2 is around 1 in 25000.

INTRODUCTION CLINICAL FEATURES- cafe’-au-lait spots: brownish circular spots on skin Lisch’s nodules: brown red spots on iris Neurofibromas: benign soft lumps, frequently grow during teenage and adult life. Plexiform neurofibroma: deeper tissues along the nerve

CASE REPORT A 40 year old female Swelling of the left eye lids since childhood. Unable to close her left eye due to fibroma. Multiple nodular swellings present all over her body. cafe’-au-lait spots present mainly on trunk . Snellen’s visual acuity RE- 6/18 and of LE-finger counting 3 meter.

CASE REPORT Ocular examination showed presence of nodular swelling of 3 x 2.5 x 2 cm size involving whole of the lower eyelid and temporal half of the upper eyelid. Grade IV Ectropion of left lower eye lid Cornea- Numerous Nebulo-Macular opacities with superficial vascularization due to exposure keratopathy.

left sided neurofibroma with lower lid ectropion 3x2.5x2 cm mass over left lower lid Right eye iris- Lisch’s nodule Left eye cornea Nebulo-macular grade opacities

DISCUSSION Neurofibramatosis is an autosomal dominant neuro- cutaneous disorder and have the potential to involve any organ. Diagnostic criteria for neurofibramatosis1 are- -6 or more café-u-lait spots -2 or more neurofibroma or 1 plexiform neurofibroma. –axillary or groin freckling -2 or more Lisch’s nodules -Bony dysplasia -first degree relative with NF1 Diagnostic criteria for neurofibromatosis 2 are--- -unilateral vestibular schwanomma plus 2 or more meningiomas. -Multiple meningiomas plus a single vestibular schwannoma or two of the following: schwannoma, neurofibroma, juvenile cataract

DISCUSSION OCULAR MANIFESTATIONS Lisch nodules Plexiform neurofibromas Choroid hamartomas Retinal tumors Optic nerve gliomas Prominent corneal nerves

CONCLUSION EXPOSURE KERATOPATHY SECONDARY TO ECTROPION WITH BULKY EYELIDS SHOULD BE SUSPECTED AS A RARE OCULAR MANIFESTATION OF NEUROFIBRAMATOSIS 1

REFERENCES Parson’s diseases of the eye-- 22nd edition Ophthalmologic Manifestations of Neurofibromatosis Type 1 medscape article by Andrew A Dahl, MD, FACS,and Simon K Law, MD, PharmD Understanding Neurofibromatosis: An introduction for patients and parents 3rd edition JAMES H. Tonsgard