COMFORT LEVEL OF POST GRADUATE RESIDENTS WORKING IN DIFFERENT CLINICAL DOMAINS IN MANAGING COMMON OPHTHALMIC CONDITIONS.

BACKGROUND: Ophthalmological conditions are frequently encountered in almost all clinical specialties. Assessing the adequacy of ophthalmology teaching in undergraduate medical education is important in order to diagnose and manage different ophthalmological conditions. The objective of this study was to determine the comfort level of post graduate residents working in different clinical domains in managing common ophthalmic conditions. METHODS: A cross sectional survey involving 277 post graduate residents was carried out over a period of six months in both private and public tertiary care hospital. A questionnaire containing two sections and 17 variables in total were distributed among Medical Residents of different specialties except ophthalmology residents. Participants of the study were selected through consecutive non probability sampling. RESULTS: Mean hours of classroom based ophthalmology instruction during undergraduate program was 59.38 hours (55.9) and mean hours of clinical based ophthalmology instruction during undergraduate program was 62.73 hours (60.8) 54% were either "not comfortable" or "somewhat comfortable" in managing common ophthalmic condition. Conclusion: Teaching hours in under graduate program meet or exceed requisite criteria. However graduating doctors generally feel that the time spent does not provide them with the comfort and skill level required to care for patients with ocular presentations.

Effect Of Intra Vitreal Injection Of Bevacizumab On Intra-Ocular Pressure.

BACKROUND: Bevacizumab has been in use as a therapeutic agent for macular oedema for several years. While its efficacy has been well documented, its use has been shown to cause a transient rise in the intra-ocular pressure. The aim of this study was to evaluate the long term effect of intravitreal injection of Bevacizumab on Intra-ocular pressure. METHODS: One hundred eyes (n=100) of one hundred patients, requiring intra-vitreal injection of Bevacizumab for diabetic macular oedema were recruited from Shifa Foundation Community Health Centre (SFCHC) between January and December 2014. Patients of glaucoma, ocular hyper-tension, known allergy to Bevacizumab or had injections of Bevacizumab prior to the study were excluded. Intra-ocular pressure was measured using a Goldmann applanation tonometer, prior to, and at six and twelve months after the injection. The pre- and post- injection Intra-ocular pressure was entered into the database. Test of significance was applied to investigate whether there was a significant change in intra-ocular pressure after the injection. RESULTS: The mean age of the patient was 56.97 years (±14.97). The mean intra-ocular pressure was 13.86 (±3.16) mmHg before injection, while postinjection mean Intra-Ocular pressure was 14.21 (±3.12) mmHg and 13.79 (±3.07) at six and twelve months respectively. Between baseline and six months there was a statistically significant difference in intra-ocular pressure (p=0.03), while no significant difference existed in the intraocular pressure between baseline and twelve months (p=0.92). CONCLUSIONS: Intra-vitreal injection of Bevacizumab is associated with a statically significant rise in intra-ocular pressure at six months, while no significant difference was seen at twelve months compared to baseline.

Pain management with retrobulbar alcohol injection in absolute glaucoma.

Ocular pain can be multi-factorial and often refractory to treatment, in spite of the myriad options available to the ophthalmologist for its management. Initial therapy entails the use of topical and systemic pressure lowering agents as well as anti-inflammatory/analgesics for the provision of relief. Those refractory to medical therapy may require surgical intervention in the form of cyclodestructive procedures, retrobulbar injection of absolute alcohol and evisceration or enucleation. A case series of 5 patients of absolute glaucoma who were successfully treated with retrobulbar alcohol injection is reported. Pain was recorded on a verbal analogue score (VAS).All the patients were pain free twelve months after the injection. No significant long term complications were observed. This case series emphasizes the fact that retrobulbar alcohol injection can play an important role in the alleviation of pain in patients with absolute glaucoma.

A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.

BACKGROUND: A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affected individuals of a consanguineous Pakistani family exhibiting features of neuro-ichthyotic disorder. METHODS: Linkage in the family was searched by genotyping microsatellite markers linked to the gene ELOVL4, mapped at chromosome 6p14.1. Exons and splice junction sites of the gene ELOVL4 were polymerase chain reaction amplified and sequenced in an automated DNA sequencer. RESULTS: DNA sequence analysis revealed a novel homozygous nonsense mutation (c.78C > G; p.Tyr26*). CONCLUSIONS: Our report further confirms the recently described ELOVL4-related neuro-ichthyosis and shows that the neurological phenotype can be absent in some individuals.

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.

PURPOSE: To determine the genetic cause of Bardet-Biedl syndrome (BBS) in two consanguineous Pakistani families. METHODS: Clinical characterization of the affected individuals in both families was performed with ophthalmic examination, electroretinography, electrocardiography, and liver and renal profiling. Seventeen genes are known to be associated with BBS, so exome sequencing was preferred over candidate gene sequencing. One affected individual from both families was selected for exome sequencing. Segregation of the identified variants was confirmed with Sanger sequencing. RESULTS: Retinitis pigmentosa, obesity, and learning difficulties were present in the affected individuals in both families. In family A, a sixth finger (polydactyly) of the proband's sister was removed by a surgical operation leaving a scar on the little finger. Polydactyly was also present in both affected individuals from family B. All diagnostic symptoms were characteristic of BBS in both families. In both affected individuals from family A, exome sequencing identified a novel homozygous mutation (c.47+1G>T) in BBS1 that inactivates the splice donor site at the end of exon 1. In family B, a previously reported mutation, c.442G>A; p.(Asp148Asn), was detected. CONCLUSIONS: Exome sequencing is an efficient and cost-effective technique for identifying mutations in genetically heterogeneous diseases. In addition, intrafamilial phenotypic variability in family A argues for the modifying effect of other still unknown modifier alleles.

Spontaneous idiopathic true exfoliation of the anterior lens capsule during capsulorhexis.

We report a unique case of spontaneous per-operative idiopathic development of true exfoliation of the anterior lens capsule during capsulorhexis. A 45 year old female who underwent phacoemulsification for a cataract in the left eye, developed a partial split (the double ring sign) and eventual complete separation of the superficial lamina of the lens capsule during capsulorhexis. Radial tears developed in the remaining lamina making the capsular bag unstable. The surgery was converted to manual nucleus expression. An intra ocular lens was implanted via scleral fixation. The final best corrected visual acuity in the left eye was 6/6. The patient is comfortable with the vision. Though a rare event, the surgeon must always be alert to the development of spontaneous idiopathic per operative true exfoliation of the lens capsule.

Unilateral ptosis: a rare presentation.

We report a case of unilateral gradual drooping of right upper eyelid. It was mild to moderate in intensity and variable during the day. Examination was suggestive of myogenic ptosis (with slightly reduced levator palpebrae superioris function). She was screened for myasthenia gravis with negative tensilon test and oral trial of pyridostigmine for few weeks without any improvement, and was advised surgery at an overseas center. A second opinion was taken before surgery. A detailed history revealed that local administration of Botulinum toxin was done four months ago by a plastic surgeon. This along with mildly compromised levator function without any systemic features and negative tensilon test, led us to believe that ptosis was secondary to injection Botulinum toxin. Patient was reassured and advised to use crutch glasses for a month and then report any spontaneous improvement. She reported improvement in the right eye after six weeks, with reappearance of forehead lines.

Use of supero-temporal free conjunctivo-limbal autograft in the surgical management of pterygium: our technique and results.

BACKGROUND: A pterygium is a fibro-vascular, wing shaped encroachment of the conjunctiva on to the cornea. The prevalence rates ranges from 0.7 to 31% among different populations and also influenced by age, race, and exposure to solar radiations. Ultraviolet light-induced damage to the limbal stem cell barrier with subsequent conjunctivalisation of the cornea is the currently accepted aetiology of this condition. Indication of surgery include visual impairment, cosmetic disfigurement, motility restriction, recurrent inflammation and interference with contact lens wear. This Study was conducted to know the safety, efficacy and success with supero-temporal free conjunctivo-limbal auto graft transplantation in the surgical management of pterygium. METHODS: Prospective case series where supero temporal free conjunctivo-limbal auto grafting was performed on 72 eyes of 72 patients with vascular progressive pterygia. Pterygium recurrence was considered a surgical failure. Recurrence was defined as fibro vascular tissue crossing the corneo-scleral limbus on to the clear cornea in the area of previous pterygium excision before 6 months. RESULTS: Recurrence of pterygium was noted in three out of 72 eyes (4.16%), after a minimum follow up of 12 months to maximum of 25 months (Mean 14.6 months). No major intra-operative or postoperative complications were encountered. CONCLUSION: Supero temporal free conjunctivo-limbal auto graft appears to be a safe and effective technique in the surgical management of pterygium. The inclusion of limbal tissue in the conjunctival auto graft following pterygium excision appears to be essential to ensure low recurrence rate.

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder that is both genetically and clinically heterogeneous. To date 19 genes have been associated with BBS, which encode proteins active at the primary cilium, an antenna-like organelle that acts as the cell's signaling hub. In the current study, a combination of mutation screening, targeted sequencing of ciliopathy genes associated with BBS, and whole-exome sequencing was used for the genetic characterization of five families including four with classic BBS symptoms and one BBS-like syndrome. This resulted in the identification of novel mutations in BBS genes ARL6 and BBS5, and recurrent mutations in BBS9 and CEP164. In the case of CEP164, this is the first report of two siblings with a BBS-like syndrome with mutations in this gene. Mutations in this gene were previously associated with nephronophthisis 15, thus the current results expand the CEP164-associated phenotypic spectrum. The clinical and genetic spectrum of BBS and BBS-like phenotypes is not fully defined in Pakistan. Therefore, genetic studies are needed to gain insights into genotype-phenotype correlations, which will in turn improve the clinician's ability to make an early and accurate diagnosis, and facilitate genetic counseling, leading to directly benefiting families with affected individuals.