DOI: 10.36347/sjmcr.2020.v08i10.005

Pages: 886-890

Introduction: Groenouw type 1 granular corneal dystrophy is an autosomal dominant disease, with complete penetrance, following a mutation in the chromatin 5q31 transforming growth factor beta induced protein H3 gene (TGFβI) coding for keratoepithelin. It is a rare corneal condition that is clinically manifested by the presence of central-bilateral, symmetrical white-greyish corneal opacities in the form of snowflakes, involving the Bowman's membrane, the anterior, middle and posterior stroma. Often responsible for pain, photophobia, and a gradual decline in visual acuity. We describe the epidemiological, clinical, tomographic, genetic, and therapeutic aspects of this condition in a family of two children from a consanguineous marriage, whose parents are also affected. Patients and methods: We report the case of a family whose father, mother and their two children (a boy and a girl) are all suffering from type 1 granular dystrophy. Parents are linked by third-degree consanguinity. The first patient was a 6-year-old child, with no personal history, who had consulted for bilateral progressive lowering of visual acuity evolving since birth, with photophobia. We performed an interrogation, a biomicroscopic examination with photographs of the anterior segment, 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 BCVA at 5/10. The biomicroscopic examination revealed several small, superficial, central, whitish, confluent, snowflake-shaped, bilateral and symmetrical corneal lesions located on Bowman's membrane and sparing the limb, suggestive of granular corneal dystrophy, complicated with an organic amblyopia. Optical coherence tomography of the anterior segment revealed well-defined hyper-reflective deposits at Bowman's membrane, anterior and middle stroma. The orthoptic treatment ..