Open AccessCongenital keratoglobus with blue sclera in two siblings with overlapping Marshall/Stickler phenotype
Author(s) -
Serhat İmamoğlu,
Vedat Kaya,
Ebru Yalın İmamoğlu,
Kemran Gök
Publication year - 2016
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/0301-4738.195615
Subject(s) - sclera , medicine , ophthalmology , astigmatism , phenotype , cornea , anatomy , optics , biology , genetics , physics , gene
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.