title: Congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype.
abstract: We aimed to describe congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype. Two sisters (ages four and six) with bilateral high astigmatism were evaluated by slit-lamp microscopy. Corneal topography and pachymetry maps were also obtained. Slit-lamp examination revealed that both corneas were globular in shape with peripheral corneal thinning. Pachymetry maps showed diffuse corneal thinning. Two siblings had in common the features of keratoglobus, blue sclera, atypical face, hearing loss, and hypermobile joints. We tentatively diagnosed the sisters as having an overlapping Marshall-Stickler phenotype based on clinical and radiological findings. Marshall-Stickler syndrome may exist in the differential diagnosis of keratoglobus with blue sclera.
authors.affiliation: Department of Ophthalmology, Haydarpaşa Numune Research and Training Hospital, Istanbul, Turkey.
authors.forename: Serhat
authors.initials: S
authors.lastname: Imamoglu
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, Istanbul Kemerburgaz University, Istanbul, Turkey.
authors.forename: Vedat
authors.initials: V
authors.lastname: Kaya
authors.affiliation: Department of Pediatrics, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey.
authors.forename: Ebru Yalin
authors.initials: EY
authors.lastname: Imamoglu
authors.affiliation: Department of Ophthalmology, Mardin Park Private Hospital, Mardin, Turkey.
authors.forename: Kemran
authors.initials: K
authors.lastname: Gok
mesh_terms: D000015:Abnormalities, Multiple; D002386:Cataract / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D024161:Collagen Type XI / Q000172:deficiency*; D003315:Cornea / Q000002:abnormalities*; D019781:Corneal Topography; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D015785:Eye Diseases, Hereditary / Q000175:diagnosis*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis*; D006801:Humans; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D010641:Phenotype; D012590:Sclera / Q000002:abnormalities*; D035781:Siblings; D014792:Visual Acuity
chemical_list: D024161:Collagen Type XI