Many types of inherited renal diseases have ocular features that occasionally support a diagnosis. The following study describes an unusual example of a 40-year-old woman with granular corneal dystrophy type II complicated by renal involvement. These two conditions may coincidentally coexist; however, there are some reports that demonstrate an association between renal involvement and granular ...

PURPOSE To compare long-term keratometric changes after penetrating keratoplasty (PK) for keratoconus and Fuchs endothelial dystrophy. METHODS We retrospectively analyzed 168 corneas after PK for keratoconus (85 eyes of 63 subjects) and Fuchs dystrophy (83 eyes of 60 subjects). Patients were examined after final suture removal at 12 months after PK to 30 years after surgery. Operations were p...

IN an earlier communication (Brit. Ji. Obhthal., Vol. XXIV, p. 469, 1940), attention was drawn to the wide range of appearances seen in macular dystrophy. It was argued that the classical conception of a limited central lesion was not borne out by the actual data. In many cases there is considerable involvement of the peripheral zones, so much so that it was pointed out that to designate these ...

PURPOSE To compare anterior eye segment measurements and morphology obtained with two optical coherence tomography systems (TD OCT, SS OCT) in eyes with corneal dystrophies (CDs). METHODS Fifty healthy volunteers (50 eyes) and 54 patients (96 eyes) diagnosed with CD (epithelial basement membrane dystrophy, EBMD = 12 eyes; Thiel-Behnke CD = 6 eyes; lattice CD TGFBI type = 15 eyes; granular CD ...

PURPOSE To determine the immunophenotypes of macular corneal dystrophy (MCD) in Indian patients and to correlate them with mutations in the carbohydrate 6-sulfotransferase (CHST6) gene. METHODS Sixty-four patients from 53 families with MCD that were previously screened for mutations in CHST6 were included in an immunophenotype analysis. Antigenic keratan sulfate (AgKS) in serum as well as cor...

CLINICAL CASE A 35-year-old female patient with blurred vision since childhood, for which no treatment had been given, presented with poor visual acuity. She had white skin and fair yellow hair. There were several well circumscribed deposits in the central and anterior corneal stroma, and iris transillumination and foveal hypoplasia were evident. The clinical diagnosis was oculo-cutaneous albin...

Posterior polymorphous dystrophy is a rare corneal dystrophy, usually detected by chance. This case series describes the morphologic features in the three different types of posterior polymorphous dystrophy using confocal microscopy.

PURPOSE To report a novel mutation in the TGFBI gene, c.1761_1763del (p.His572del), associated with a unilateral variant of lattice corneal dystrophy (LCD). METHODS A 63-year-old man presenting with the complaint of decreased vision in one eye was noted to have a unilateral lattice corneal dystrophy. Examination of the patient's wife and two sons, ages 20 and 27 years old, failed to reveal th...

Vps35 (vacuolar protein sorting 35) is a major component of retromer that selectively promotes endosome-to-Golgi retrieval of transmembrane proteins. Dysfunction of retromer is a risk factor for the pathogenesis of Parkinson's disease (PD) and Alzheimer's disease (AD). However, Vps35/retromer's function in the eye or the contribution of Vps35-deficiency to eye degenerative disorders remains to ...

PURPOSE To report corneal findings in a familial case of the crystalline subtype of pre-Descemetic corneal dystrophy. CASE REPORT A 19-year-old girl and her 44-year-old mother were found to have asymptomatic, bilateral, punctiform and multi-colored crystalline opacities across the whole posterior layer of the corneas. Endothelial specular microscopy revealed the presence of white round flecks...