Analysis of gene variants in familial and non-familial primary open angle glaucoma Pakistani patients.

Aim: To find out the association of secreted protein acidic and rich in cysteine (SPARC)-related modular calcium binding 2 () gene variants rs2255680 and rs13208776 with genotypic and phenotypic characteristics in both familial and non-familial primary open angle glaucoma (POAG) patients.

Methods: A total of 212 POAG patients, comprising 124 familial and 88 non-familial, were enrolled. For genotyping the variant rs2255680, amplification refractory mutation system (ARMS)-polymerase chain reaction (PCR) method and PCR-restriction fragment length polymorphism (PCR-RFLP) were utilized for analyzing rs13208776 variant.

Mutational analysis of (rs56010818) variant in primary open angle glaucoma (POAG) affected patients of Pakistan.

Background: Primary open angle glaucoma (POAG) occurs due to the discrepancies in the angle of anterior chamber characterized by the alterations in intraocular pressure, optic nerves head changes and central loss of visual field. In molecular research, mutations modulates an integral role in association with glaucoma. Current study was undertaken to reveal the homozygous and heterozygous patterns of c.

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.

Purpose: Cone rod dystrophy (CRD) is a group of inherited retinopathies characterized by the loss of cone and rod photoreceptor cells, which results in poor vision. This study aims to clinically and genetically characterize the segregating CRD phenotype in two large, consanguineous Pakistani families.

Methods: Funduscopy, optical coherence tomography (OCT), electroretinography (ERG), color vision, and visual acuity assessments were performed to evaluate the retinal structure and function of the affected individuals.

Two novel variants in gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.

Aim: To find the mutations associated with primary congenital glaucoma (PCG) in Pakistani consanguineous pedigrees.

Methods: After getting informed consent, 11 consanguineous pedigrees belonging to different ethnic groups were enrolled. Detailed medical history was recorded and pedigrees were drawn.

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.

Developmental eye defects often severely reduce vision. Despite extensive efforts, for a substantial fraction of these cases the molecular causes are unknown. Recessive eye disorders are frequent in consanguineous populations and such large families with multiple affected individuals provide an opportunity to identify recessive causative genes.

Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.

CIB2 and GJB2 genes variants contribute significantly in familial cases of prelingual recessive hearing loss (HL). This study was aimed to determine the CIB2 and GJB2 variants and associated phenotype in 150 non-familial individuals with HL. After getting informed consent, 150 non-familial deaf patients were enrolled and blood samples were obtained for DNA extraction.

Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.

Purpose: This study aimed to investigate the role of CYP1B1 mutations in primary congenital glaucoma (PCG) in Pakistani patients.

Methods: After consent was received, 20 families with at least more than one member affected with primary congenital glaucoma were enrolled in the study. The disease was confirmed with standard ophthalmological investigations.

The novel heterozygous Thr377Arg MYOC mutation causes severe Juvenile Open Angle Glaucoma in a large Pakistani family.

Glaucoma is one of the major causes of blindness worldwide with characteristic optic disc changes and elevated intraocular pressure. It is subcategorized into Primary Open Angle Glaucoma (POAG) and Juvenile Open Angle Glaucoma (JOAG) depending upon age of the disease onset. Myocilin (MYOC) is the frequently mutated gene in familial cases of glaucoma.

Outcome of recurrent pterygium with intraoperative 0.02% mitomycin C and free flap limbal conjunctival autograft.

Objective: To determine the re-recurrence and the postoperative complications in recurrent pterygium cases treated by intraoperative 0.02% Mitomycin C (MMC) and conjunctival autograft (CAG).

Study Design: Quasi-experimental.

Visual outcome of unilateral traumatic cataract.

Objective: To evaluate the visual outcome of a series of patients presenting with unilateral traumatic cataract.

Study Design: Observational study.

Place And Duration Of Study: Ophthalmology Department, Liaquat University Hospital, Hyderabad, from July 2007 to June 2010.

Incidence and visual outcome of acute postoperative endophthalmitis.

Objectives: To assess the incidence and visual outcome of acute post operative endophthalmitis treated by intravitreal antibiotics.

Methods: This Prospective study was conducted at Department of Ophthalmology, Liaquat University Eye Hospital Hyderabad from November 2002 to October 2010. One hundred and nine patients of acute post operative endophthalmitis were treated with intravitreal antibiotics.

Etiological diagnosis of microbial keratitis.

Objective: To identify the different microbial pathogens in infective corneal ulcers.

Study Design: Observational study.

Place And Duration Of Study: Department of Ophthalmology Unit I, Eye Hospital, Liaquat University of Medical and Health Sciences, Hyderabad, Sindh, from April 2006 to September 2008.

Efficacy of intravitreal ceftazidime in acute postoperative endophthalmitis.

Objective: To assess the efficacy of intravitreal ceftazidime in acute postoperative endophthalmitis.

Study Design: Quasi experimental study.

Place And Duration Of Study: Department of Ophthalmology Unit I, Eye Hospital, Liaquat University of Medical and Health Sciences, Hyderabad, from November 2004 to November 2006.