We report a familial case of keratoconus with corneal granular dystrophy. The mother and first son have both keratoconus and corneal granular dystrophy and the second son has keratoconus alone. The keratoconus in this family is thought to be an autosomal dominant or an X-linked inheritance pattern. Granular dystrophy is an autosomal dominant inheritance. This familial case suggests that the gen...

Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV α3α4α5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, flec...

PURPOSE To describe the clinical and histopathologic findings in a 72-year-old woman with North Carolina macular dystrophy. METHODS Clinical examination was performed by slit-lamp biomicroscopy, indirect ophthalmoscopy, color fundus photography, and focal electroretinography. Histopathologic examination of the enucleated left eye consisted of light microscopy. RESULTS Light microscopy demon...

Citation: Zhang W, Ogando DG, Kim ET, et al. Conditionally immortal Slc4a11 / mouse corneal endothelial cell line recapitulates disrupted glutaminolysis seen in Slc4a11 / mouse model. Invest Ophthalmol Vis Sci. 2017;58:3723–3731. DOI:10.1167/ iovs.17-21781 PURPOSE. To establish conditionally immortal mouse corneal endothelial cell lines with genetically matched Slc4a11þ/þ and Slc4a11 / mice as ...

Map-dot-fingerprint dystrophy cause painless blurred vision due to irregular astigmatism. Corneal topography may show asymmetry and irregularity and can resemble keratoconus. Two patients with map-dot dystrophy with unilateral blurring of vision are presented that were misdiagnosed as keratoconus due to asymmetric corneal topography. Medical treatment with hypertonic saline and lubrication in o...

BACKGROUND The purpose of this study was to investigate pathological changes of the corneal cell layer in patients with map-dot-fingerprint (epithelial basement membrane) dystrophy by in vivo laser corneal confocal microscopy. METHODS Two patients were evaluated using a cornea-specific in vivo laser scanning confocal microscope (Heidelberg Retina Tomograph 2 Rostock Cornea Module, HRT 2-RCM)....

PURPOSE Macular corneal dystrophy (MCD) is subdivided into three immunophenotypes (MCD types I, IA and II). Recently, mutations in the carbohydrate sulfotransferase 6 gene (CHST6) were identified to cause MCD. The purpose of this study was to examine CHST6 for mutations in Icelandic patients with MCD type I. METHODS Genomic DNA was extracted from leukocytes in the peripheral blood and the cod...