Posters

Granular corneal dystrophy type 1: about a family

Poster Details

First Author: N.Boutimzine MOROCCO

Co Author(s): A. Kougou Noutoume   B. Hannane   O. Cherkaoui              

Abstract Details

Purpose:

Groenouw type 1 or granular corneal dystrophy type1 is an autosomal dominant disease , with complete penetrance, following a mutation in the chromatin 5q31 transforming growth beta induced protein H3 gene ( TGFbI ) coding for keratoepithelin. It is rare condition that is clinically manifested by central , bilateral , symmetrical white-greyish corneal opacities involving the Bowman's membrane , the anterior,middle and posterior stroma. We describe the epidemiological,  clinical,  tomographic,  genetic, and therapeutic aspects of this condition in family of two children, whose parents are also affected.

Setting:

Ophtalmology unit A , faculty of medecine and pharmacy,  university mohamed 5 , Rabat , Morocco

Methods:

We report the case of family whose father , mother and their two children ( a boy and a girl ) are all suffering from type 1 ganular dystrophy.  Parents are linked by third degree consanguinity. The first patient was a 6 years old child , with no personal history,  who had consulted for lowering progressive bilateral visual acuity evolving since birth with photophobia. We performed an interrogation, a biomicroscopic examination,  a paraclinical assessment including an optical coherence tomography of the anterior segment. Then we conducted a family survey by examining family members, including her father, mother and sister.

Results:

The examination of the child found a bilateral visual acuity reduced to 5/10 , not improvable with optical correction . The biomicroscopic examination revealed several small, superficial, central, whitish, confluent ,bilateral and symmetrical corneal lesions located on Bowman''s membrane and sparing the limb, suggestive of granular corneal dystrophy type1.  Optical coherance tomography of the anterior segment revealed well defined hyper reflective deposits at Bowman's membrane, anterior and middle stroma. The orthoptic treatment instituted was considered insufficient,  and the child had been programmed for a therapeutic photokeratectomy. Examination of the rest of the family found similar less marked .

Conclusions:

Type 1 granular corneal dystrophy is a hereditary condition that appears in the first two decades and affects both sexes. It can manifest severely in childhood and cause amblyopia,  especially in homozygous individuals. The OCT of the anterior segment confirms the diagnosis, helps in the choice of the therapeutic technique and intraoperatively it refines the treatment. In moderate cases ,optical correction and symptomatic medical treatment may be sufficient. In severe cases , PKT is the technique of choice, and may in the long term , in case of the recurrence,  be supplemented by transfixing keratoplasty, a more invasive technique .

Financial Disclosure:

None