Search

Aim: To determine the visual outcome and factors influencing visual outcome after cataract surgery in an urban charity hospital in Pakistan. Methods: A series of selected outpatients were examined who [...]

In this article, we first consider the fractional q-differential operator and the λ,q-fractional differintegral operator Dqλ:A→A. Using the λ,q-fractional differintegral operator, we define two new subclasses of analytic functions: the subclass S*q,β,λ of starlike functions of order β and the class CΣλ,qα of bi-close-to-convex functions of order β. We explore the results on coefficient inequality and Fekete–Szegö problems for functions belonging to the class S*q,β,λ. Using the Faber polynomial technique, we derive upper bounds for the nth coefficient of functions in the class of bi-close-to-convex functions of order β. We also investigate the erratic behavior of the initial coefficients in the class CΣλ,qα of bi-close-to-convex functions. Furthermore, we address some known problems to demonstrate the connection between our new work and existing research.

In the field of nano-composites, hybrid nano-fluids have noteworthy applications in aerospace, energy materials, thermal sensors, antifouling, etc. because of their ability to produce higher thermal conductivity than conventional nanofluids. Different combinations of nanocomposites have been found in the literature to develop the suitable hybrid-mixture, but no study has been found yet about the combined influence of ceria and zinc-oxide nanocomposites in the host liquid. In this article, unsteady 3 D transport of water driven hybrid nano-fluid with the consequences of brick shaped nanocomposites (ceria; and zinc oxide; ) has deliberated with the thermal link of heat source/sink. Variable thermal conditions have been supplied at the surface with the effect of a magnetic environment. Similarity relations have been used to articulate the transport equations into solvable forms and then solved numerically via Keller-Box method. Nusselt number and skin-friction coefficients have also plotted with the wide ranges of involved parameters. Thermal setup has also briefly been discussed with the non-uniformity of surface temperature. Rate of heat transfer has significantly improved with the amounts of ceria (1 wt% to 10 wt%) and zinc-oxide (1 wt% to 10 wt%) nanocomposites. The Nusselt number is reported in the range of 4.0 to 4.8 with the increasing amount of from −0.6 to −0.2, whereas it is reported in the range of 3.1 to 3.9 with the varying amount of from 0.2 to 0.6. Rate of heat transfer is observed higher for zinc-oxide nanoparticles as compared to ceria nanoparticles.

In this study, we investigate a possible relationship between fuzzy differential subordination and the theory of geometric functions. First, using the Al-Oboudi differential operator and the Babalola convolution operator, we establish the new operator BSα,λm,t:An→An in the open unit disc U. The second step is to develop fuzzy differential subordination for the operator BSα,λm,t. By considering linear transformations of the operator BSα,λm,t, we define a new fuzzy class of analytic functions in U which we denote by Tϝλ,t(m,α,δ). Several innovative results are found using the concept of fuzzy differential subordination and the operator BSα,λm,t for the function f in the class Tϝλ,t(m,α,δ). In addition, we explore a number of examples and corollaries to illustrate the implications of our key findings. Finally, we highlight several established results to demonstrate the connections between our work and existing studies.

In this paper, we first investigate some subclasses of q-starlike functions. We then apply higher-order q-derivative operators to introduce and study a new subclass of q-starlike functions, which involves the Janowski functions. Several coefficient inequalities and a sufficient condition are derived. Relevant connections with a number of earlier works on this subject are also pointed out.

In the present investigation, our aim is to define a generalized subclass of analytic and bi-univalent functions associated with a certain $q$-integral operator in the open unit disk $\mathbb{U}$. We estimate bounds on the initial Taylor-Maclaurin coefficients $\left \vert a_{2}\right \vert$ and $\left \vert a_{3}\right \vert $ for normalized analytic functions $f$ in the open unit disk by considering the function $f$ and its inverse $g = f^{{-}{1}}$. Furthermore, we derive special consequences of the results presented here, which would apply to several (known or new) subclasses of analytic and bi-univalent functions.

Abstract In the present investigation, with the help of certain higher-order q-derivatives, some new subclasses of multivalent q-starlike functions which are associated with the Janowski functions are defined. Then, certain interesting results, for example, radius problems and the results related to distortion, are derived. We also derive a sufficient condition and certain coefficient inequalities for our defined function classes. Some known consequences related to this subject are also highlighted. Finally, the well-demonstrated fact about the ( p , q ) $(p,q)$ -variations is also given in the concluding section.

Abstract In the present paper, by using the concept of convolution and q-calculus, we define a certain q-derivative (or q-difference) operator for analytic and multivalent (or p-valent) functions. This presumably new q-derivative operator is an extension of the known q-analogue of the Ruscheweyh derivative operator. We also give some interesting applications of this q-derivative operator for multivalent functions by using the method of differential subordination. Relevant connections with a number of earlier works on this subject are also pointed out.

Abstract A number of families of q-extensions of analytic functions in the open unit disk U $\mathbb{U}$ have been defined by means of basic (or q-)calculus and considered from many distinctive prospectives and viewpoints. In this paper, we generalize and study certain subclasses of analytic functions involving higher-order q-derivative operators. We settle characteristic equations for these presumably new classes and also study numerous coefficient inequalities. For the results obtained in this presentation, we also carry out appropriate connections with those in multiple other concerning works on this subject.

In the present investigation, our main aim is to give lower bounds for the ratio of some normalized q-Mittag-Leffler function and their sequences of partial sums. We consider various corollaries and consequences of our main results.

The recent progress in nanotechnology provides the concept of hybrid-class nano-fluids having advanced thermal features comparing to regular nanofluids. The idea of a hybrid nanofluid has motivated many researchers because of its convincible performance in thermal systems. The novel theme of the present effort is to scrutinize the consequences of convective heat transfer in bidirectional water driven hybridclass nanofluid involving blade shaped cadmium telluride CdTe and graphite C nanoparticles with electromagnetohydrodynamics (EMHD) process. The transport equations representing the aforementioned topic are firstly nondimensionalized by using scaling-group transformation and then tackled by the Keller-box method, numerically. The significant results for pertinent parameters have been simulated and presented graphically as well as in tabular forms. Coefficients of drag forces are diminished with the more loadings of cadmium telluride and graphite nanoparticles and opposite results are noticed in the case of the Nusselt number. Heat transport has been improved significantly with more loadings of nanoparticles from 1 wt% to 10 wt%. A comparison benchmark for a limited version of the investigation is made with the previously published data.

The main objective of this investigation is to introduce certain new subclasses of the class $Sigma $ of bi-univalent functions by using concept of conic domain. Furthermore, we find non-sharp estimates on the first two Taylor-Maclaurin coefficients $ left vert a_{2}right vert $ and $left vert a_{3}right vert $ for functions in these new subclasses. We consider various corollaries and consequences of our main results. We also point out relevant connections to some of the earlier known developments.

Abstract In this paper, the authors introduce a new subclass of meromorphic q-starlike functions which are associated with the Janowski functions. A characterization of meromorphically q-starlike functions associated with the Janowski functions has been obtained when the coefficients in their Laurent series expansion about the origin are all positive. This leads to a study of coefficient estimates, distortion theorems, partial sums, and the radius of starlikeness estimates for this class. It is seen that the class considered demonstrates, in some respects, properties analogous to those possessed by the corresponding class of univalent analytic functions with negative coefficients.

In the current work, by using the familiar q-calculus, first, we study certain generalized conic-type regions. We then introduce and study a subclass of the multivalent q-starlike functions that map the open unit disk into the generalized conic domain. Next, we study potentially effective outcomes such as sufficient restrictions and the Fekete–Szegö type inequalities. We attain lower bounds for the ratio of a good few functions related to this lately established class and sequences of the partial sums. Furthermore, we acquire a number of attributes of the corresponding class of q-starlike functions having negative Taylor–Maclaurin coefficients, including distortion theorems. Moreover, various important corollaries are carried out. The new explorations appear to be in line with a good few prior commissions and the current area of our recent investigation.

Objective: The present study was envisioned to develop Sunoon Zard a traditional Unani toothpowder into toothpaste form along with its physicochemical standardization and evaluation of anti microbial activity against oral pathogens by in vitro study. Materials and methods: Herbal extracts based powder was redesigned to toothpaste as per the Pharmacopoeial guidelines and its pharmaceutical evaluation was conceded as per the Indian Government Tooth Paste Specifications. In vitro study was done to evaluate the antibacterial activity by using agar well diffusion method against dental pathogens. Zone of Inhibition was taken as the end parameter against the test pathogens after appropriate incubation period. It was compared with Dimethyl sulphoxide (DMSO) used as solvent (0.01%) as Negative control whereas Ciprofloxacin 5μg/disk (standard antibiotic for gram positive) and Gentamicin 10μg/disk (standard antibiotic for gram negative) were used as Positive control. All the experiment was done as per the Clinical and Laboratory Standards Institute (CLSI) Guidelines in triplicates. Results: Sunoon Zard was developed into toothpaste form and its physicochemical values were found to in consonance with the optimum values as mentioned in Bureau of Indian Standard. In vitro study of the Sunoon Zard toothpaste was found to be effective against various dental pathogens with specific sensitivity with good zone of inhibition towards gram negative bacterial strains viz. P.aeruginosa and K.pneuomoniae while among gram positive a significant inhibition was found against C.xerosis and S.viridans. Conclusion: The developed toothpaste from classical Unani herbal tooth powder will provide the better patient compliance. Moreover its scientific screening which exhibited potential antibacterial activity in controlling pathogenic oral microflora compared to the standard drugs also revalidated the claim of Unani Physicians that the Sunoon Zard is quite effective in various oro-dental disorders.

The main purpose of this investigation is to define new subclasses of analytic functions with respect to symmetrical points. These functions map the open unit disk onto certain conic regions in the right half plane. We consider various corollaries and consequences of our main results. We also point out relevant connections to some of the earlier known developments.

In this paper, we introduce certain new subclasses of multivalent spirallike Bazilevicfunctions by using the concept of k-uniformly starlikness and k-uniformly convexity. We proveinclusion relations, su cient condition and Fekete-Szego inequality for these classes of functions.Convolution properties for these classes are also discussed.

In this paper, we introduce two new subclasses of p-valent spirallike functions of order α:We prove necessary and suffcient conditions for these newly defined classes and also point out someknown consequences of our results.

Objective: To assess the effectiveness of sodium hyaluronate Eye Gel in Dry Eye Disease (DED) patients Methods: A Multi-center, Open-label, Uncontrolled clinical trial was conducted in different centers of Pakistan. Ten ophthalmologists conducted this study in which 250 diagnosed patients with dry eye disease were enrolled after obtaining a written informed consent. Ten patients were dropped out during the study period. All patients were assessed as per following criteria for enrolling a patient into the study: Tear Film Break - up time (TBUT) ≥ 10 seconds, Schirmer Test - 1 ≥ 6 mm / 5 minutes and Positive Corneal Staining. Tolerability/safety was assessed by the monitoring and recording of all adverse events. The physical examination was done at baseline, 4th week and 8th week. Results: The mean age of the patients was 43.4 ±17.8 years and out of 240 patients 117 (48.7%) were males and 123 (51.3%) females. The Mean duration of symptoms was 19.3±23.9. At the initial visit the foreign body sensation was 50.6%, itching 35.9%, burning 50.6%, watering 42.9%, photophobia 25.3% and feeling of dryness in 14.7% of patients. After 4 weeks (2nd visit), the symptoms were decreased to 47.1% foreign body sensation, 32.4% itching, 48.2% burning, 41.8% watering, 25.3% photophobia and 13.5% feeling of dryness. At the 3rd visit (after 8 weeks) the frequency of symptoms were: 45.3% foreign body sensation, 30.6% itching, 45.9% burning, 40% watering, 24.7% photophobia and 13.5% feeling of dryness. Conclusion: Sodium Hyaluronate can provide a suitable alternate in the treatment of dry eye disease due to its reported efficacy on foreign body sensation, itching, burning, watering, photophobia and feeling of dryness, [ABSTRACT FROM AUTHOR]

In this paper, we introduce a new class of harmonic univalent functions with respect to k-symmetric points by using a newly-defined q-analog of the derivative operator for complex harmonic functions. For this harmonic univalent function class, we derive a sufficient condition, a representation theorem, and a distortion theorem. We also apply a generalized q-Bernardi–Libera–Livingston integral operator to examine the closure properties and coefficient bounds. Furthermore, we highlight some known consequences of our main results. In the concluding part of the article, we have finally reiterated the well-demonstrated fact that the results presented in this article can easily be rewritten as the so-called (p,q)-variations by making some straightforward simplifications, and it will be an inconsequential exercise, simply because the additional parameter p is obviously unnecessary.

The aim of this paper is to introduce a new subclass of multivalent functions of complex order and to study some interesting properties such as coeffcient estimates, suffciency criteria, Fekete-Szego inequality, inclusion result and integral preserving property for this newly defined class.

In this paper, we introduce a new subclass of multivalent functions associated with conic domain in an open unit disk. We study some convolution properties, su cient condition for the functions belonging to this new class.

In our present investigation, with the help of the basic (or q-) calculus, we first define a new domain which involves the Janowski function. We also define a new subclass of the class of q-starlike functions, which maps the open unit disk U, given by U= z:z∈C and z <1, onto this generalized conic type domain. We study here some such potentially useful results as, for example, the sufficient conditions, closure results, the Fekete-Szegö type inequalities and distortion theorems. We also obtain the lower bounds for the ratio of some functions which belong to this newly-defined function class and for the sequences of the partial sums. Our results are shown to be connected with several earlier works related to the field of our present investigation. Finally, in the concluding section, we have chosen to reiterate the well-demonstrated fact that any attempt to produce the rather straightforward (p,q)-variations of the results, which we have presented in this article, will be a rather trivial and inconsequential exercise, simply because the additional parameter p is obviously redundant.

In this paper, we define a new subclass of meromorphic close-to-convex univalent functions defined in the punctured open unit disc by using a differential operator. Some inclusion results, convolution properties and several other properties of this class are studied.

First, by making use of the concept of basic (or q-) calculus, as well as the principle of subordination between analytic functions, generalization Rq(h) of the class R(h) of analytic functions, which are associated with the leaf-like domain in the open unit disk U, is given. Then, the coefficient estimates, the Fekete–Szegö problem, and the second-order Hankel determinant H2(1) for functions belonging to this class Rq(h) are investigated. Furthermore, similar results are examined and presented for the functions zf(z) and f−1(z). For the validity of our results, relevant connections with those in earlier works are also pointed out.

In this paper, we use q-derivative operator to define a new class of q-starlike functions associated with k-Fibonacci numbers. This newly defined class is a subclass of class A of normalized analytic functions, where class A is invariant (or symmetric) under rotations. For this function class we obtain an upper bound of the third Hankel determinant.

In this article, by using the concept of the quantum (or q-) calculus and a general conic domain Ω k , q , we study a new subclass of normalized analytic functions with respect to symmetrical points in an open unit disk. We solve the Fekete-Szegö type problems for this newly-defined subclass of analytic functions. We also discuss some applications of the main results by using a q-Bernardi integral operator.

In this paper, our aim is to define a new subclass of close-to-convex functions in the open unit disk U that are related with the right half of the lemniscate of Bernoulli. For this function class, we obtain the upper bound of the third Hankel determinant. Various other related results are also considered.

In this paper, our aim is to define certain new classes of multivalently spiral-like, starlike, convex and the varied Mocanu-type functions, which are associated with conic domains. We investigate such interesting properties of each of these function classes, such as (for example) sufficiency criteria, inclusion results and integral-preserving properties.

The main purpose of this article is to find the upper bound of the third Hankel determinant for a family of q-starlike functions which are associated with the Ruscheweyh-type q-derivative operator. The work is motivated by several special cases and consequences of our main results, which are pointed out herein.

By using a certain general conic domain as well as the quantum (or q-) calculus, here we define and investigate a new subclass of normalized analytic and starlike functions in the open unit disk U . In particular, we find the Hankel determinant and the Toeplitz matrices for this newly-defined class of analytic q-starlike functions. We also highlight some known consequences of our main results.

By making use of the concept of basic (or q-) calculus, various families of q-extensions of starlike functions of order α in the open unit disk U were introduced and studied from many different viewpoints and perspectives. In this paper, we first investigate the relationship between various known classes of q-starlike functions that are associated with the Janowski functions. We then introduce and study a new subclass of q-starlike functions that involves the Janowski functions. We also derive several properties of such families of q-starlike functions with negative coefficients including (for example) distortion theorems.

Kabab chini (KC) (Piper cubeba) is an important drug in Unani Medicine, widely described to be effective in renal diseases, and physicians are using it as a protective and curative agent in various renal disorders from ancient times. The present study was designed to evaluate the nephroprotective effect of KC against gentamycin-induced nephrotoxicity in Wistar rats. This was studied in two different sets of tests, in which both the protective as well as the curative effects were evaluated in groups of albino rats. The powder of the test drug was administered orally in a dose of 810 mg/kg and 1220 mg/kg, in suspension form, in the pre- and post-treated models. The nephroprotective effect was assessed on the basis of biochemical estimation of serum urea and creatinine levels and histopathological examination of the treated kidney. The effect observed in the pre-treated and post-treated groups was compared with plain as well as negative control groups using one-way ANOVA with Dunnett′s multiple pair comparison test. The findings of the two tests demonstrated that KC produced a significant nephroprotective effect in both pre-treated and post-treated groups. The results of our study indicate that KC possesses significant benefit against gentamycin-induced nephrotoxicity.

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. All the patients of RRD, irrespective of gender, within the age bracket of 20 years or more and diagnosed by a consultant ophthalmologist were included in the research study. Patients with serous retinal or tractional detachment and RRD with vitreous leakage were excluded from the study. A slit lamp and dilated fundus examination was performed preoperatively to assess the type of retinal detachment and associated factors as mentioned above. All data were collected on predesigned pro forma. Results About 25,000 individuals were presented to the outpatient department during the study period. Out of these, 100 patients were diagnosed with RRD. The incidence rate of the RRD in our center was 0.4%. There were a majority of the males. The mean age of patients did not vary significantly with respect to gender (p < 0.797). The most common type of RD was the total RD with a frequency of 53 cases followed by inferior RD with 19 cases. The majority of those with total RRD were males, i.e., 37%; however, the difference was statistically insignificant (p = 0.476). The study revealed that most of the RRD was diagnosed in patients < 45 years of age; however, the difference was not statistically significant (p < 0.227). Conclusion The present study highlighted the incidence of RRD and explored the sociodemographic and other clinical features in the Pakistani population. However, it is possible that the RRD condition is still under-diagnosed in our hospital settings. Further exploration is warranted to study comprehensively the risk factors associated with RRD., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Iqbal et al.)

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., Results: Patients in 32 arCC families were homozygous for markers near at least 1 of the 33 known CC genes. Sequencing the included genes revealed homozygous cosegregating sequence changes in 10 families, 2 of which had the same variation. These included five missense, one nonsense, two frame shift, and one splice site mutations, eight of which were novel, in EPHA2, FOXE3, FYCO1, TDRD7, MIP, GALK1, and CRYBA4., Conclusions: The above results confirm the usefulness of homozygosity mapping for identifying genetic defects underlying autosomal recessive disorders in consanguineous families. In our ongoing study of arCC in Pakistan, including 83 arCC families that underwent homozygosity mapping, 3 mapped using genome-wide linkage analysis in unpublished data, and 30 previously reported families, mutations were detected in approximately 37.1% (43/116) of all families studied, suggesting that additional genes might be responsible in the remaining families. The most commonly mutated gene was FYCO1 (14%), followed by CRYBB3 (5.2%), GALK1 (3.5%), and EPHA2 (2.6%). This provides the first comprehensive description of the genetic architecture of arCC in the Pakistani population.

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. Blood samples were collected and genomic DNA was extracted. Exclusion analyses were completed by genotyping closely spaced microsatellite markers, and two-point logarithm of odds (LOD) scores were calculated. All coding exons, along with the exon-intron boundaries of GRM6, were sequenced bidirectionally., Results: According to the medical history available to us, affected individuals in both families had experienced night blindness from the early years of their lives. Fundus photographs of affected individuals in both the families appeared normal, with no signs of attenuated arteries or bone spicule pigmentation. The scotopic electroretinogram (ERG) response were absent in all of the affected individuals, while the photopic measurements show reduced b-waves. During exclusion analyses, both families localized to a region on chromosome 5q that harbors GRM6, a gene previously associated with autosomal recessive CSNB. Bidirectional sequencing of GRM6 identified homozygous single base pair changes, specifically c.1336C>T (p.R446X) and c.2267G>A (p.G756D) in families PKRP170 and PKRP172, respectively., Conclusions: We identified a novel nonsense and a previously reported missense mutation in GRM6 that were responsible for autosomal recessive CSNB in patients of Pakistani decent.

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. A genome-wide scan was performed, and two-point logarithm of odds (LOD) scores were calculated. Sanger sequencing was performed to identify the causative variants. Subsequently, we performed whole exome sequencing to rule out the possibility of a second causal variant within the linkage interval. Sequence conservation was performed with alignment analyses of PDE6A orthologs, and in silico splicing analysis was completed with Human Splicing Finder version 2.4.1., Results: A large multigenerational consanguineous family diagnosed with early-onset RP was ascertained. An ophthalmic clinical examination consisting of fundus photography and electroretinography confirmed the diagnosis of RP. A genome-wide scan was performed, and suggestive two-point LOD scores were observed with markers on chromosome 5q. Haplotype analyses identified the region; however, the region did not segregate with the disease phenotype in the family. Subsequently, we performed a second genome-wide scan that excluded the entire genome except the chromosome 5q region harboring PDE6A. Next-generation whole exome sequencing identified a splice acceptor site mutation in intron 16: c.2028-1G>A, which was completely conserved in PDE6A orthologs and was absent in ethnically matched 350 control chromosomes, the 1000 Genomes database, and the NHLBI Exome Sequencing Project. Subsequently, we investigated our entire cohort of RP familial cases and identified a second family who harbored a splice acceptor site mutation in intron 10: c.1408-2A>G. In silico analysis suggested that these mutations will result in the elimination of wild-type splice acceptor sites that would result in either skipping of the respective exon or the creation of a new cryptic splice acceptor site; both possibilities would result in retinal photoreceptor cells that lack PDE6A wild-type protein., Conclusions: we report two splice acceptor site variations in PDE6A in consanguineous Pakistani families who manifested cardinal symptoms of RP. Taken together with our previously published work, our data suggest that mutations in PDE6A account for about 2% of the total genetic load of RP in our cohort and possibly in the Pakistani population as well.

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. A genome-wide linkage scan was performed, followed by exclusion analyses among our cohort of nuclear consanguineous families with microsatellite markers spanning the TULP1 locus on chromosome 6p. Two-point logarithm of odds scores were calculated, and all coding exons of TULP1 were sequenced bidirectionally., Results: The results of ophthalmological examinations among affected individuals in these 5 families were suggestive of retinitis pigmentosa. The genome-wide linkage scan localized the disease interval to chromosome 6p, harboring TULP1 in 1 of 5 families, and sequential analyses identified a single base pair substitution in TULP1 that results in threonine to alanine substitution (p.T380A). Subsequently, we investigated our entire cohort of families with autosomal recessive retinitis pigmentosa and identified 4 additional families with linkage to chromosome 6p, all of them harboring a single base pair substitution in TULP1 that results in lysine to arginine substitution (p.K489R). Results of single-nucleotide polymorphism haplotype analyses were suggestive of a common founder in these 4 families., Conclusion: Pathogenic mutations in TULP1 are responsible for the autosomal recessive retinitis pigmentosa phenotype in these consanguineous Pakistani families, with a single ancestral mutation in TULP1 causing the disease phenotype in 4 of 5 families., Clinical Relevance: Clinical and molecular characterization of pathogenic mutations in TULP1 will increase our understanding of retinitis pigmentosa at a molecular level.

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. A genome-wide scan was completed with fluorescently-labeled microsatellite markers on genomic DNA from affected and unaffected family members. Logarithms of odds (LOD) scores were calculated under a fully penetrant autosomal recessive model of inheritance., Results: Ophthalmic examination suggested that affected individuals have bilateral cataracts. Linkage analysis localized the critical interval to chromosome 8p with LOD scores of 3.19, and 3.08 at θ=0, obtained with markers D8S549 and D8S550, respectively. Haplotype analyses refined the critical interval to 37.92 cM (16.28 Mb) region, flanked by markers, D8S277 proximally and D8S1734 distally., Conclusions: Here, we report a new locus for autosomal recessive congenital cataract mapped to chromosome 8p in a consanguineous Pakistani family.

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. A genome-wide scan was performed with fluorescently-labeled microsatellite markers on genomic DNA from affected and unaffected family members and logarithm of odds (LOD) scores were calculated., Results: Clinical records and ophthalmological examinations suggested that affected individuals have bilateral congenital cataracts. Genome-wide linkage analysis localized the critical interval to chromosome 3q with a maximum LOD score of 3.87 at θ=0; with marker D3S3609. Haplotype analyses refined the critical interval to a 23.39 cM (18.01 Mb) interval on chromosome 3q, flanked by D3S1614 proximally and D3S1262, distally., Conclusions: Here, we report a new locus for autosomal recessive congenital cataract localized to chromosome 3q in a consanguineous Pakistani family.

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. Blood samples were collected and DNA was extracted. A genome-wide scan was completed with 382 polymorphic microsatellite markers, and logarithm of odds (LOD) scores were calculated., Results: Maximum 2-point LOD scores of 5.68 and 2.88 at theta = 0 were obtained for markers D8S285 and D8S260, respectively, during the genome-wide scan. Additional microsatellite markers refined the disease locus to a 16.96-cM (14.07-Mb) interval flanked by D8S1737 proximally and D8S1117 distally., Conclusions: We report on a new locus for nonsyndromic autosomal recessive ectopia lentis on chromosome 8q11.23-q13.2 in a consanguineous Pakistani family. Clinical Relevance Identification of genetic loci and genes involved in ectopia lentis will enhance our understanding of the disease at a molecular level, leading to better genetic counseling and family screening and possible future development of better treatment.

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. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected and unaffected family members and logarithm of odds (LOD) scores were calculated. All coding exons of galactokinase (GALK1) were sequenced to identify pathogenic lesions., Results: Clinical records and ophthalmological examinations suggested that affected individuals have nuclear cataracts. Linkage analysis localized the critical interval to chromosome 17q with a maximum LOD score of 5.54 at theta=0, with D17S785 in family PKCC030. Sequencing of GALK1, a gene present in the critical interval, identified a single base pair deletion: c.410delG, which results in a frame shift leading to a premature termination of GALK1: p.G137fsX27. Additionally, we identified a missense mutation: c.416T>C, in family PKCC055 that results in substitution of a leucine residue at position 139 with a proline residue: p.L139P, and is predicted to be deleterious to the native GALK1 structure., Conclusions: Here, we report pathogenic mutations in GALK1 that are responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families.

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. Conservative treatment with observation, Nd-YAG hyaloidotomy, and vitrectomy were offered to all patients. A total of 11 patients opted for laser treatment, and one opted for conservative treatment with observation after counseling and informed consent. Nd-YAG-laser hyaloidotomy was performed to drain the hemorrhage into the vitreous cavity. Visual acuity and was recorded prior to treatment and at 1- and 6-month intervals after treatment. Complete retinal examination was undertaken at each visit when possible. Visual acuity improved in 11 patients after the Nd-YAG hyaloidotomy. No postlaser complications were noted at 6 months follow-up. One patient declined treatment and was monitored. Drainage of premacular preretinal hemorrhage due to Valsalva retinopathy into the vitreous with a Nd-YAG laser is a treatment alternative with potential of quick visual rehabilitation. Long-term results are unknown; however, short-term (up to 6 months) follow-up showed good results.

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., Results: A genome-wide scan of 25 families gave an hlod = 4.53 with D8S260. Retinitis pigmentosa in all three families mapped to a 14.21-cM (21.19-Mb) region on chromosome 8 at q11, flanked by D8S532 and D8S260. This region harbors RP1, which is known to cause autosomal dominant retinitis pigmentosa. Sequencing of the coding exons of RP1 showed mutations in all three families: two single-base deletions, c.4703delA and c.5400delA, resulting in a frame shift, and a 4-bp insertion, c.1606insTGAA, all causing premature termination of the protein. All affected individuals in these families are homozygous for the mutations. Parents and siblings heterozygous for the mutant allele did not show any signs or symptoms of RP., Conclusions: These results provide strong evidence that mutations in RP1 can result in recessive as well as dominant retinitis pigmentosa. The findings suggest that truncation of RP1 before the BIF motif or within the terminal portion results in a simple loss of RP1 function, producing a recessive inheritance pattern. In contrast, disruption of RP1 within or immediately after the BIF domain may result in a protein with a deleterious effect and hence a dominant inheritance pattern.