ESCRS - P133 - OCULAR MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1: CASE REPORT

OCULAR MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1: CASE REPORT

Published 2024 - 28th ESCRS Winter Meeting

Reference: P133 | Type: Presented Poster & Poster | DOI: 10.82333/0hcq-3015

Authors: Lamia Ajdour* 1 , assia elharrar 1 , imad hanane 1 , zyad laftimi 1 , ghizlane daghouj 1 , loubna elmaaloum 1 , bouchra allali 1 , asmaa elkettani 1

1pediatric ophtalmology department,20 august hospital,casablanca,Morocco

Purpose

the aim of our work is the early diagnosis of ocular involvement of neurofibromatosis type 1 in order to treat it and limit complications

Setting

observationnal clinical case 

Methods

  • 29 years old patient.
  • Antecedents:
  • follow-up for NF1 since his adolescence for multiple hyperpigmented lesions, then at the age of 20 for a disturent cutaneous growth of the left upper and left temporal eyelid for which he benefited from a tumor reduction surgery of a plexiform neurofibroma (PN) in plastic surgery 6 years ago.
  • The patient is monophthalmus of the right eye (neglected corneal abscess of the left eye on trichiasic cilia).

Results

  •  Ophthalmological examination of the right eye :

    Visual acuity at 10/10, Corneal sensitivity slightly decreased with normal specular microscopy: cellularity at 3000 cells / mm2, break up time decreased to 4 seconds, Presence of several Lisch nodules, without other abnormalities detected  Normal tone at 12 mm Hg with an open angle in gonioscopy.  Examination of the posterior pole is normal with papillary OCT not revealing papillary edema.

  • Ophthalmological examination of the right eye :

visual acuity limited to positive light perception.  A thickening of the upper eyelid (palpebral NP) extending towards the temporal side with ptosis, residual lagophthalmos, and several trichiasic cilia of the lower eyelid. Conjunctival involvement is associated.

 Examination of the anterior segment finds an axial and temporal paraxial cornea case with a very dystrophic cornea with 360° vascular call, diffuse superficial punctate keratitis. The OCT of the anterior segment shows an axial and temporal corneal thickening of 683μm. The rest is not seen with a normal eye ultrasound.

Conclusion

 Neurofibromatosis type 1 is a genetic disease manifested by several disorders, including neurological, bone, cutaneous, visceral, endocrine and ocular involvement. The latter is characterized by the appearance of iris tumours called lisch nodules, but also by tumours affecting the eyelids and orbital deformities.