Increase in blood derived mitochondrial DNA copy number in strabismus patients.

Background: Abnormalities in mitochondrial energy homeostasis can lead to various disorders, including ocular motility aberrations. Previous studies have suggested the involvement of mitochondrial aberrations in strabismus etiology. We compared the blood-derived mitochondrial DNA (mtDNA) copy number from comitant strabismus patients with that from age-matched controls, and also compared expression of mitochondrial biogenesis genes in a separate set of extraocular muscle samples from strabismic and control subjects.

Association of polymorphisms with exotropia in a Pakistani cohort.

Purpose: Strabismus (STBMS) is a multifactorial ocular disorder in children that leads to misalignment of the eyes. Insulin-like growth factor 1 () has been shown to be involved in the development of extraocular muscles and myopia; however, data are limited on the genetic associations of with STBMS in Pakistan.

Methods: Two hundred seventy-four STBMS cases and 272 unaffected controls were recruited, and their DNA was extracted.

Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.

Background: Primary congenital glaucoma (PCG) is a heterogeneous rare recessively inherited disorder prevalent in regions with high consanguinity. Disease phenotype is associated with increased intra ocular pressure and is a major cause of childhood blindness. Sequence variations in Cytochrome P450 1B1 (CYP1B1) gene are a major cause of PCG.

Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.

Background: Congenital cataract is causing one-third of blindness worldwide. Congenital cataract is heterogeneous in its inheritance patterns. The current study is aimed to explore the unknown genetic causes underlying congenital cataracts.

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.

Purpose: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder that affects the anterior segment of the eye. The aim of this study was to examine the PITX2 gene to identify possible novel mutations in Pakistani and Mexican families affected by the ARS phenotype.

Methods: Three unrelated probands with a diagnosis of ARS were recruited for this study.

Global Retinoblastoma Presentation and Analysis by National Income Level.

Importance: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale.

Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.

Purpose: Brittle cornea syndrome (BCS) is a rare recessive disorder affecting connective tissues, most prominently in the eye. Pathogenic mutations causing BCS have been identified in PRDM5 and ZNF469 genes. This study investigates the genetic cause of BCS in a large, consanguineous Pakistani family with 4 affected and 3 unaffected individuals.

Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2.

Primary congenital glaucoma (PCG) causes blindness in early age. It has an autosomal recessive pattern of inheritance, hence is more prevalent in populations with frequent consanguineous marriages that occur in the Pakistani population. Mutations in the CYP1B1 gene are commonly associated with PCG.

Anisometropia and refractive status in children with unilateral congenital nasolacrimal duct obstruction.

Objective: The objective of the study was to evaluate the refractive status and thereby assess anisometropia in children with unilateral congenital nasolacrimal duct obstruction (CNLDO).

Study Design: This study design was a descriptive cross-sectional study.

Place And Duration: this study was conducted at the Department of Pediatric Ophthalmology and Strabismology, Al-Shifa Trust Eye Hospital, Rawalpindi; from August 2013 to July 2014.

Anisometropia and Refractive Status in Children with Bilateral Congenital Nasolacrimal Duct Obstruction.

Objective: To evaluate the state of refraction in children with bilateral congenital nasolacrimal duct obstruction (CNLDO).

Study Design: Descriptive study.

Place And Duration Of Study: Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan, from April 2014 to April 2016.

Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.

Congenital cataract is a clinically and genetically heterogeneous disease. The present study was undertaken to find the genetic cause of congenital cataract families. DNA samples of a large consanguineous Pakistani family were genotyped with a high resolution single nucleotide polymorphism Illumina microarray.

Variants in the PRPF8 Gene are Associated with Glaucoma.

Glaucoma is the cause of irreversible blindness worldwide. Mutations in six genes have been associated with juvenile- and adult-onset familial primary open angle glaucoma (POAG) prior to this report but they explain only a small proportion of the genetic load. The aim of the study is to identify the novel genetic cause of the POAG in the families with adult-onset glaucoma.

Tumor Regression Patterns in Retinoblastoma.

Objective: To observe the types of tumor regression after treatment, and identify the common pattern of regression in our patients.

Study Design: Descriptive study.

Place And Duration Of Study: Department of Pediatric Ophthalmology and Strabismus, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan, from October 2011 to October 2014.

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.

Background: Anterior segment dysgenesis (ASD) disorders are a group of clinically and genetically heterogeneous phenotypes in which frequently cornea, iris, and lens are affected. This study aimed to identify novel mutations in PAX6, PITX2 and FOXC1 in families with anterior segment dysgenesis disorders.

Methods: We studied 14 Pakistani and one Mexican family with Axenfeld Rieger syndrome (ARS; n = 10) or aniridia (n = 5).

Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma.

Background: Primary congenital glaucoma (PCG) is the most common form of glaucoma in children. PCG occurs due to the developmental defects in the trabecular meshwork and anterior chamber of the eye. The purpose of this study is to identify the causative genetic variants in three families with developmental and primary congenital glaucoma (PCG) with a recessive inheritance pattern.

Congenital Cataract, Nasolacrimal Duct Obstruction, and Methicillin-Resistant Staphylococcus aureus Conjunctivitis: When to Operate?

Methicillin-resistant Staphylococcus aureus is one of the toughest organisms to treat, especially in cases where intraocular surgery is contemplated, because the risks are aggravated. Conjunctival swab culture and sensitivity tests are significant when there is history of recent hospitalization. In this report, an infant with successful cataract surgery after elimination of the organism is presented.

Comparison of Anisometropia and Refractive Status in Children With Unilateral and Bilateral Congenital Nasolacrimal Duct Obstruction.

Purpose: To evaluate and compare the refractive state in children diagnosed as having unilateral or bilateral congenital nasolacrimal duct obstruction (CNLDO). This study also compares how the laterality of CNLDO affects the refractive state of the patients.

Methods: This descriptive cross-sectional study includes consecutive children with unilateral and bilateral CNLDO over a period of 1 year.

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.

Purpose: Photoreceptor neuronal degenerations are common, incurable causes of human blindness affecting 1 in 2000 patients worldwide. Only half of all patients are associated with known mutations in over 250 disease genes, prompting our research program to identify the remaining new genes. Most retinal degenerations are restricted to the retina, but photoreceptor degenerations can also be found in a wide variety of systemic diseases.

Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma.

Background: Recently nonsynonymous coding variants in the ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) gene were found to be associated with primary open angle glaucoma (POAG) in cohorts from Oregon and Germany, but this finding was not confirmed in an independent cohort from Iowa. The aim of the current study was to assess the role of ASB10 gene variants in Pakistani glaucoma patients.

Methods: Sanger sequencing of the coding exons and splice junctions of the ASB10 gene was performed in 30 probands of multiplex POAG families, 208 sporadic POAG patients and 151 healthy controls from Pakistan.

Changes in Central Corneal Thickness and Endothelial Cell Count Following Pediatric Cataract Surgery.

Objective: To evaluate the mean changes in Central Corneal Thickness (CCT) and Endothelial Cell Count (ECC) in eyes after pediatric cataract surgery with foldable intraocular lens using scleral tunnel incision micro-surgical technique.

Study Design: Qausi experimental study.

Place And Duration Of Study: Department of Pediatric Ophthalmology and Strabismus, Al-Shifa Trust Eye Hospital, Rawalpindi, from May 2011 to March 2012.

Fraser Syndrome.

Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO), syndactyly, genitourinary tract abnormalities, laryngeal and tracheal anomalies, craniofacial dysmorphism, malformations of the ear and nose, orofacial clefting and musculoskeletal defects. FS is genetically heterogeneous; so far mutations in FRAS1, FREM2 and GRIP1 genes have been linked to FS.

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.

Axenfeld-Rieger syndrome (ARS) is a disorder affecting the anterior segment of the eye, often leading to secondary glaucoma and several systemic malformations. It is inherited in an autosomal dominant fashion that has been associated with genetic defects in PITX2 and FOXC1. Known genes CYP1b1, PITX2, and FOXC1 were excluded by Sanger sequencing.

Clinical course of retinoblastoma.

Objective: To determine the clinical manifestations and results of current treatment for patients with retinoblastoma (Rb) in a tertiary care eye hospital in the north west of Pakistan.

Study Design: Case series.

Place And Duration Of Study: Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan, from January 2006 and December 2009.

Nasolacrimal duct obstruction in children: outcome of primary intubation.

Objective: To evaluate the outcome of nasolacrimal intubation as a primary treatment of congenital nasolacrimal duct obstruction (NLDO) in children up to 4 years of age.

Methods: During the 3 years period from July 2008 to June 2011, in the Paediatric Ophthalmology Department. Alshifa Trust Eye Hospital, Rawalpindi, 65 eyes of 59 children, aged 12 to 48 months with congenital NLDO and no prior Nasolacrimal duct surgery were enrolled.