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Crouson syndrome: rare case report

Poster Details

First Author: A.Syla Lokaj KOSOVO

Co Author(s):    B. Rama                    

Abstract Details


The purpose of this study is to report all other normal features including visual acuity,, optic nerve head, visual field with the exception of dental malformations of the patient of Cruouzon syndrome


University Clinical Center of Kosova,Eye Clinic


A 20 year old girl reported to the ophthalmology department with her parents for routine eye exhamination exactly for refractive error . Past medical history from the parents revealed that the features started developing slowly after birth and was diagnosed as CS at the age of 2 years. Family history revealed no abnormalit. His developmental milestones were found to be normal. The patient presented with obvious dysmorphic cranial and facial features. Ocular manifestations such a shallow orbit,hypertelorism,bilateral proptosis and strabismus,and hypoplastic maxilla with realtive prognathism were present. The orthopantomogram revealed the presence of succedaneous teeth with no obvious abnormality.


The patient was subjected to radiographic investigations. The orthopantomogram revealed the presence of all permanent teeth with no obvious abnormality. Lateral skull view demonstrated a retruded maxilla with a relatively large mandible and copper beaten appearance.Radiographic examination of sinuses was done. Paranasal sinus view revealed obliterated sutures, small paranasal sinuses,with chronix maxillary sinusitis.Three-dimensional (3D) computed tomographic images of the skull revealed increased circumference of the skull without any degree of hydrocephalus.Supraorbital rim implant and chin reduction were perfomed.


Crouzon syndrome is an autosomal dominant disorder with a number of distinguishing characteristics,but in very rare cases it present without optic nerve atrophy and good visual acuity as in our patient. In the literature very little documentation exists on the quality of life such patients can lead after the treatment. In our case, the patient was diagnosed during the early stages of this syndrome when the symptoms were just setting in. The treatment thus provided to the patient has proven to be very effective, and during follow-up, it has been documented that the patient has very good quality of life.

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