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Year : 2016  |  Volume : 64  |  Issue : 11  |  Page : 856-859

Congenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype

1 Department of Ophthalmology, Haydarpaşa Numune Research and Training Hospital, Istanbul, Turkey
2 Department of Ophthalmology, Faculty of Medicine, Istanbul Kemerburgaz University, Istanbul, Turkey
3 Department of Pediatrics, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey
4 Department of Ophthalmology, Mardin Park Private Hospital, Mardin, Turkey

Correspondence Address:
Dr. Serhat Imamoglu
Haydarpaşa Numune Research and Training Hospital, Tıbbiye Caddesi, No. 40, 34662 Üsküdar, Istanbul
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0301-4738.195615

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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.

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