title: Bilateral Atypical Granular Corneal Dystrophy Associated with Unilateral Keratoconus in a Male Child.
abstract: A 14-year-old male presented with decreased vision. Slit lamp examination indicated multiple anterior corneal stromal opacities with clear intervening spaces accompanied with superficial subepithelial lines arranged in a quasi-whorl-like fashion bilateral with greater prominence in the right eye. Corneal steepening associated with thinning was noted only in the right eye. Genetic analysis confirmed a mutation suggestive of granular corneal dystrophy. Here, we describe a rare case of an atypical granular dystrophy associated with unilateral keratoconus in a male child.
authors.affiliation: Department of Cornea, Aravind Eye Hospital, Madurai, Tamil Nadu, India.
authors.forename: Kavita Lohiya
authors.initials: KL
authors.lastname: Dangra
authors.affiliation: Department of Cornea, Aravind Eye Hospital, Madurai, Tamil Nadu, India.
authors.forename: Manoranjan
authors.initials: M
authors.lastname: Das
authors.affiliation: Department of Genetics, Aravind Medical Research Foundation, Madurai, Tamil Nadu, India.
authors.forename: Sundersan
authors.initials: S
authors.lastname: Periasamy
authors.affiliation: Department of Cornea, Aravind Eye Hospital, Madurai, Tamil Nadu, India.
authors.forename: N Venkatesh
authors.initials: NV
authors.lastname: Prajna
mesh_terms: D000293:Adolescent; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D019781:Corneal Topography; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics; D006801:Humans; D007640:Keratoconus / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D018613:Microscopy, Confocal; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D000072776:Slit Lamp Microscopy; D041623:Tomography, Optical Coherence; D016212:Transforming Growth Factor beta / Q000235:genetics; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein
keywords: Granular Corneal Dystrophy; Keratoconus; Subepithelial Lines