Comparative study to evaluate retinal changes using spectral-domain optical coherence tomography in diabetics without diabetic retinopathy.

Purpose: To elucidate changes in the neuro-sensory retina at the macula, using spectral-domain optical coherence tomography (SD-OCT) in type 2 diabetics without clinical signs of diabetic retinopathy, and compare with healthy subjects.

Methods: This was a cross-sectional observational study, conducted at a tertiary eye institute from November 2018 to March 2020. Type 2 diabetics visiting the outpatient department with normal fundus (without any clinical signs of diabetic retinopathy) were taken as Group 1, and healthy subjects as Group 2.

Ophthalmic manifestations in Rothmund-Thomson syndrome: Case report and review of literature.

A 24-year-old male patient presented to us with diminution of vision in both eyes with watering and photophobia for the past 8 years. General physical examination showed short stature and poikiloderma. Ocular findings include photophobia with reflex tearing, dry eye, cicatricial ectropion, symblepharon approaching pupillary area of cornea, and multiple superficial punctuate erosions on the cornea.

Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.

Purpose: Congenital hereditary endothelial dystrophy 2 (CHED2) is an autosomal recessive disorder caused by mutations in the solute carrier family 4, sodium borate transporter, member 11 (SLC4A11) gene. The purpose of this study was to identify the genetic cause of CHED2 in six Indian families and catalog all known mutations in the SLC4A11 gene.

Methods: Peripheral blood samples were collected from individuals of the families with CHED2 and used in genomic DNA isolation.

Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family.

Purpose: To describe the clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles (CFEOM) in an Indian family.

Methods: Individuals were examined and their peripheral blood samples were withdrawn for genetic analysis. The disorder was tested for linkage to two known autosomal dominant CFEOM loci on chromosome 12p11.