Biomedical subjects

Sanaullah Jan

Publications and source records attributed to Sanaullah Jan.

5 recordsLinked to original sources

PubMed2026

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.

IMPORTANCE: Inherited retinal dystrophies are a group of disorders that may lead to progressive vision loss. Improved knowledge of their molecular genetics is important for accurate diagnosis or development of targeted therapies. OBJECTIVE: To identify pathogenic variants in the SLC6A6 gene (encoding TauT, the main transporter for taurine) and assess their role in the molecular pathogenesis of hereditary early-onset retinal dystrophy (EORD) in affected individuals from diverse ethnic backgrounds. DESIGN, SETTING, AND PARTICIPANTS: This was a retrospective, multicenter observational study conducted between June 2019 and March 2025, involving 7 affected and 10 unaffected individuals from 4 unrelated families recruited in Pakistan, Italy, the US, and France. EXPOSURE: Pathogenic variants in SLC6A6 in individuals with EORD. MAIN OUTCOMES AND MEASURES: Genetic, clinical, and functional outcomes of pathogenic variants in SLC6A6 in individuals with Leber congenital amaurosis (LCA) and EORD. All patients underwent standard clinical examinations, including visual acuity, full-field electroretinography, and multimodal retinal imaging, followed by measurement of fasting plasma taurine levels. In vitro and ex vivo taurine transport and membrane trafficking assays in human embryonic kidney (HEK)-293 cells, as well as patient-derived fibroblasts, were also performed. RESULTS: All 7 affected individuals exhibited LCA/EORD, with extraocular findings in some. Genetic analysis identified homozygous pathogenic SLC6A6 variants in all affected individuals, while unaffected relatives were heterozygous carriers. Families 1 and 2 carried missense variants p.(Thr249Ile) and p.(Ala294Thr), while families 3 and 4 carried truncating variants-a deletion of exon 11 and p.(Thr113Ter), respectively. Functional studies demonstrated that both missense variants are associated with complete loss of taurine transport in HEK-293 cells and patient-derived fibroblasts. Additionally, irrespective of the variants considered, plasma taurine levels in affected individuals were reduced compared with heterozygous carriers (difference between means, -31.7 µmol/L; 95% CI, -42.7 to -20.8; P < .001) and healthy control individuals (difference between means, -37.7 µmol/L; 95% CI -41.6 to -33.8; P < .001). CONCLUSIONS AND RELEVANCE: These findings confirm and expand the role of biallelic variants in SLC6A6 in association with LCA/EORD due to impaired taurine transport. These findings suggest that patients with a diagnosis of SLC6A6-related LCA/EORD may be candidates for investigational oral taurine supplementation.

Humans↗

PubMed2004

Ocular emergencies.

OBJECTIVE: To describe clinical data about ocular emergencies (OE) and their management. DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: This study was conducted from 1st January, 2000 to 31st December, 2002 at the Department of Ophthalmology, Khyber institute of Ophthalmic Medical Sciences, Lady Reading Hospital, Peshawar. MATERIAL AND METHODS: A comprehensive analysis of the computer record available for admitted ocular emergencies was undertaken in terms of gender, age, etiology, procedure performed and hospital stay. RESULTS: Ocular emergencies (1961) were 18.49% of total admissions. Male to female ratio was 2:1. Non-traumatic ocular emergencies were 1058 (53.95%) with male to female ratio of 1.47:1. In the non-traumatic ocular emergencies, majority (67.2%) were 40 years or above. Traumatic ocular emergencies were 925 (47.16%) with male to female ratio of 2.77:1. Majority (83.78%) of traumatic ocular emergencies were below 40 years and 562 (60.75%) below 20 years of age. Only 150 (16.21%) cases were 40 years and above. Corneal ulcers (44.51%) and glaucoma (24.38%) were the most common non-traumatic ocular emergencies, whereas, open globe injuries (73.4%) were leading the traumatic ocular emergencies. Total surgical procedures performed were 1382 (13.7% of total major ophthalmic surgery). Average stay in hospital was 5.5 days. CONCLUSION: Ocular emergencies predominantly affected the males in this series. Trauma related OE are almost as common as non-traumatic. Majority of OE need surgical intervention and the average hospital stay is longer than routine admissions.

Adult↗

PubMed2004

Conventional retinal reattachment surgery.

OBJECTIVE: To evaluate the surgical outcome in rhegmatogenous retinal detachment (RRD) cases operated by conventional retinal reattachment techniques. DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: This study was conducted at Eye Unit, Hayatabad Medical Complex (HMC), KIOMS, Peshawar, from July, 2002 to December, 2002. MATERIALS AND METHODS: A retrospective analysis of ophthalmic record of rhegmatogenous retinal detachment operated by conventional retinal reattachment surgery was done. Anatomic outcome was evaluated in relation to duration of presentation and pre-operative proliferative vitreoretinopathy (PVR). Postoperative visual acuity (VA) was compared to pre-operative VA. Complications and causes of failure of anatomic success were also analyzed. RESULTS: A total of 40 cases were studied. Male to female ratio was approx 2:1. Retinal breaks were localized in 70% cases, 37.5 % cases had single break while 32.5 % cases had more than one retinal breaks. Forty two percent had total retinal detachment while 57.5 % had less than total retinal detachment. Five percent had attached macula at presentation. Immediate postoperative retinal reattachment was attained in 80% cases but ultimate anatomic success after at least 6 months of follow up was 72.5%. Patients who presented earlier (upto 1 year) had 75% anatomic success while those who presented later than 1 year had 50% success rate. Postoperative visual improvement was noted in 80 % cases with flat macula, 65% had VA 6/60 or better after surgery. Most common cause of failure of anatomical reattachment was PVR (63.63% of failed conventional surgery). Most common postoperative complication was raised intraocular pressure ( > 21 mmHg) in 25 cases. CONCLUSION: There is more chance of retinal reattachment and visual restoration in cases that present earlier. PVR is the main cause of failure of conventional retinal reattachment surgery. Postoperative visual improvement is directly related to surgical reattachment of the macula.

Adult↗

PubMed2003

Corneal complications of vernal catarrh.

OBJECTIVE: To identify the magnitude and types of corneal complications of vernal catarrh and the extent of visual impairment caused by them. DESIGN: A cross-sectional study. PLACE AND DURATION OF STUDY: Khyber Institute of Ophthalmic Medical Sciences (KIOMS), Hayatabad Medical Complex (HMC), Peshawar, from March, 1999 to May, 2000. SUBJECTS AND METHODS: All cases of vernal catarrh who agreed to an informed consent were included in the study. Patients who were difficult to be examined by a slit lamp were excluded from the study. The diagnosis was made mainly on the basis of history and clinical examination. Slit lamp examination was done in every case together with fluorescein staining of cornea. The variables were recorded and statistically analyzed. RESULTS: Superficial punctate keratitis (45%) was the most common corneal complication. Visual impairment was more pronounced in cases with shield ulcers (14%) and corneal plaques (8%). A strong association with keratoconus (15%) was also noted. Corneal opacification (9%), hydrops (6%) and pseudogerentoxon (3%) were also found. CONCLUSION: Corneal complications in VKC are common, potentially serious and may cause marked visual impairment.

Adolescent↗

PubMed2003

Hyphaema due to blunt trauma.

OBJECTIVE: To study the causes, clinical presentation, complications and visual outcome of hyphaema following closed globe injury. DESIGN: Prospective study. PLACE AND DURATION OF STUDY: The study was conducted at the Department of Ophthalmology, Postgraduate Medical Institute, Lady Reading Hospital, Peshawar, Pakistan, from May, 1996 to June 1997. PATIENTS AND METHODS: All cases of hyphaema, due to closed globe injury, were included and history of patients was recorded on a comprehensive proforma designed for this purpose. All cases were admitted for at least 5 days. Ocular examination included checking visual acuity (VA), intraocular pressure (IOP), slit lamp and fundus examination. Patients were treated accordingly and followed up for 90 days. RESULTS: Thirty-six eyes of 36 patients with hyphaema were included in our study. Out of this, 88.89% were males and 11.11% females while 86% were 20 years of age or below. Almost 91.66% presented with primary hyphaema, 44.44% received trauma with stone and 27.77% with tennis ball while playing cricket. Trauma during playing was noted in 66.66% of cases. Almost 62% of cases were having visual acuity in the range of CF to perception of light with good projection. IOP was raised initially in 41.66% cases. Only 33.33% needed surgical intervention. Secondary glaucoma was present in 13.88% and 5.55% had corneal blood staining. Majority of patients (75%) improved to VA range of 6/6 to 6/12 and 19% patients in our study ended up with legal blindness in the affected eyes. CONCLUSION: Traumatic hyphaema is more frequently found among children and young male. Angle recession, traumatic cataract and maculopathy were common co-morbidities. Secondary glaucoma and corneal staining were the main complications. Nearly 1/5th of patients ended up with legal blindness in the affected eyes.

Adolescent↗