a 70-year - old female with oculocutaneous albinism , presented with proptosis of the right eye for 15 days and defective vision of both eyes since birth , which got worsened in the right eye for the past 15 days .
ophthalmological examination revealed visual acuity of hm and 20/400 in re and le , respectively .
eccentric proptosis of right eye was seen ( 27 mm hertel in re and 15 mm hertel in le ) with fullness in the superotemporal quadrant of the right orbit [ fig . 1 ] .
anterior segment of both eyes showed iris transillumination defects , a normal pupillary reaction and nuclear sclerosis .
proptosis of right eye in oculocutaneous albinism ultrasound of right eye showed low to moderate echogenic mass in the superotemporal quadrant of the orbit .
2 ] computed tomography ( ct ) and magnetic resonance imaging ( mri ) of orbit showed a well - defined lobulated , elongated mass of mixed intensity , measuring 7.1  3.6  2.8 cm with well - enhancing solid and non - enhancing cystic areas in the superior part of the right orbit .
superiorly there was erosion of roof of the orbit with intracranial and extra dural extension .
there was erosion of medial wall of the orbit with extension into the posterior ethmoidal sinus [ figs . 3 and 4 ] .
imaging features were in favor of orbital neurofibroma , so radiologist suggested fine needle aspiration cytology or biopsy to confirm the diagnosis .
however , they could not guarantee a total extirpation of the intracranial part of the plexiform neurofibroma .
b - scan shows orbital mass indenting the eye ball ct orbit shows cystic mass with peripheral enhancement extending into cavernous sinus with eroding lesser wing of sphenoid bone mri orbit shows mass with cystic space extending into cavernous sinus histopathological study reveals plexiform neurofibroma h and e , 10 )
neurofibromas of the orbit are rare and account for 0.6 - 2.4% of all orbital tumors .
plexiform neurofibromas , the most common orbital subtype , occur exclusively in neurofibromatosis type 1 .
diffuse neurofibromas are usually the dermal variants ; they rarely affect the orbit and are clinically indistinguishable from the plexiform subtype .
histologically , diffuse neurofibromas show greater cellularity , less collagen deposition , and lack the cellular peri - neural sheathing characteristic of plexiform neurofibromas .
both the plexiform and diffuse subtypes lack clear margination and tend to be highly vascular .
they are relatively well circumscribed and much less vascular . though this patient was diagnosed to have plexiform neurofibroma of the orbit , other clinical manifestations of neurofibromatosis 1 were absent .
isolated plexiform neurofibromas without the systemic features of neurofibromatosis 1 have been reported at other anatomical sites ; however , their location in orbit is relatively rare .
similar cases of orbital plexiform neurofibromas without the systemic features of neurofibromatosis 1 have been reported in literature .
oculocutaneous albinism is associated with syndromes such as prader willi syndrome , angelmann syndrome , hermansky pudlack syndrome and chediak - higashi syndrome .
a very rare case has been reported showing the genetic associations between partial albinism and neurofibromatosis in two daughters of a family along with axenfield 's defect , congenital deafness and peroneal muscular dystrophy .
however , isolated orbital plexiform neurofibroma in association with albinism has not been reported so far .
this rare case is reported for the coincidental presentation of oculocutaneous albinism and isolated orbital plexiform neurofibroma without any systemic features of neurofibromatosis 1 in the same patient and probably the first case to be reported .
 a 70-year - old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth . 
 she was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism . 
 eccentric proptosis was due to an orbital mass which proved to be a plexiform neurofibroma by histopathological examination . 
 the case is presented for its rarity , as an isolated orbital plexiform neurofibroma without the systemic features of neurofibromatosis is rare and its coincidental presentation with oculocutaneous albinism is yet rare and has not been reported so far . 