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Objective: To assess the quality of life in Pakistani melasma patients. Study Design: Cross-sectional study. Place and Duration of Study: Department of Dermatology, Combined Military Hospital Lahore, from Oct 2020 to May 2021. Methodology: The study was conducted on 126 adult patients of both genders by non-probability, consecutive sampling technique. Melasma severity was assessed by 'melasma area severity index (MASI) and quality of life impairment by 'dermatology life quality index (DLQI). Results: A total of 126 patients participated in the study, out of which 85.7% were females, and 14.3% were males. Mean MASI score was 12.21 ± 6.87, and mean DLQI score was 8.22 ± 7.46. Male patients had higher MASI scores and statistically signifycant DLQI than female patients (p=0.016). Employed people and those from the higher socio-economic group showed a more significant impairment of their quality of life. Conclusion: There was moderate impairment of quality of life in melasma patients. Healthcare givers need to recognize the effect of melasma on mental health while counselling patients and devising management strategies. [ABSTRACT FROM AUTHOR]

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.

Purpose: To identify the disease locus for autosomal recessive congenital cataract in a consanguineous Pakistani family., Methods: All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and 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., Results: The clinical records and ophthalmological examinations suggested that all affected individuals have nuclear cataracts. Maximum LOD scores of 5.01, 4.38, and 4.17 at theta=0 were obtained with markers D7630, D7S657, and D7S515, respectively. Fine mapping refined the critical interval and suggested that markers in a 27.78 cM (27.96 Mb) interval are flanked by markers D7S660 and D7S799, which co-segregate with the disease phenotype in family PKCC108., Conclusions: We have identified a new locus for autosomal recessive congenital cataract, localized to chromosome 7q21.11-q31.1 in a consanguineous Pakistani family.