Incidence of Rhegmatogenous Retinal Detachment (RRD) in a Tertiary Care Center of Pakistan.

Background Regardless of the advancements in ophthalmology, rhegmatogenous retinal detachment (RRD) remains a substantial issue for physicians. The present study assessed the incidence of RRD among our population. Methodology A cross-sectional study was performed at the Layton Rehmatullah Benevolent Trust (LRBT) between June 2020 and May 2021.

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.

Purpose: To identify the genetic origins of autosomal recessive congenital cataracts (arCC) in the Pakistani population.

Methods: Based on the hypothesis that most arCC patients in consanguineous families in the Punjab areas of Pakistan should be homozygous for causative mutations, affected individuals were screened for homozygosity of nearby highly informative microsatellite markers and then screened for pathogenic mutations by DNA sequencing. A total of 83 unmapped consanguineous families were screened for mutations in 33 known candidate genes.

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.

Purpose: This study was undertaken to investigate the causal mutations responsible for autosomal recessive congenital stationary night blindness (CSNB) in consanguineous Pakistani families.

Methods: Two consanguineous families with multiple individuals manifesting symptoms of stationary night blindness were recruited. Affected individuals underwent a detailed ophthalmological examination, including fundus examination and electroretinography.

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.

Purpose: This study was conducted to localize and identify causal mutations associated with autosomal recessive retinitis pigmentosa (RP) in consanguineous familial cases of Pakistani origin.

Methods: Ophthalmic examinations that included funduscopy and electroretinography (ERG) were performed to confirm the affectation status. Blood samples were collected from all participating individuals, and genomic DNA was extracted.

Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.

Objective: To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa in 5 consanguineous Pakistani families.

Methods: Affected individuals in the families underwent a detailed ophthalmological examination that consisted of fundus photography and electroretinography. Blood samples were collected from all participating family members, and genomic DNA was extracted.

Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.

Purpose: To identify the disease locus for autosomal recessive congenital cataracts in a consanguineous Pakistani family.

Methods: All affected individuals underwent a detailed ophthalmologic examination. Blood samples were collected and genomic DNA was extracted.

Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q.

Purpose: To localize the disease interval for autosomal recessive congenital cataracts in a consanguineous Pakistani family.

Methods: All affected individuals underwent detailed ophthalmologic examination. Blood samples were collected and genomic DNA was extracted.

Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.

Objective: To investigate the genetic basis and molecular characteristics of the isolated form of ectopia lentis.

Methods: We ascertained a consanguineous Pakistani family with multiple individuals with ectopia lentis. All affected as well as unaffected members with isolated ectopia lentis underwent detailed ophthalmologic and medical examination.

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

Purpose: To identify the pathogenic mutations responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families.

Methods: All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and genomic DNA was extracted.

Nd:YAG laser treatment for Valsalva premacular hemorrhages: 6 month follow up : alternative management options for preretinal premacular hemorrhages in Valsalva retinopathy.

The aim of this study was to determine visual outcomes, complications, and long-term effects of drainage of preretinal (premacular) hemorrhage into the vitreous with Neodymium (Nd)-YAG laser in patients due to Valsalva retinopathy. A total of 12 patients with preretinal and premacular hemorrhage presumably caused by Valsalva maneuver was studied. All patients denied any history of ocular disease prior to presentation.

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.

Purpose: To localize and identify the gene and mutations causing autosomal recessive retinitis pigmentosa in three consanguineous Pakistani families.

Methods: Blood samples were collected and DNA was extracted. A genome-wide scan was performed by using 382 polymorphic microsatellite markers on genomic DNA from affected and unaffected family members, and lod scores were calculated.