Microspherophakia is an autosomal-recessive congenital disorder characterized by small spherical lens. It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-metaphyseal dysplasia. The purpose of this study was to map and identify the gene for isolated microspherophakia in two consanguineous Indian families. Using a whole-genome linkage scan in one family, we identified a likely locus for microspherophakia (MSP1) on chromosome 14q24.1-q32.12 between markers D14S588 and D14S1050 in a physical distance of 22.76 Mb. The maximum multi-point lod score was 2.91 between markers D14S1020 and D14S606. The MSP1 candidate region harbors 110 reference genes. DNA sequence analysis of one of the genes, LTBP2, detected a homozygous duplication (insertion) mutation, c.5446dupC, in the last exon (exon 36) in affected family members. This homozygous mutation is predicted to elongate the LTBP2 protein by replacing the last 6 amino acids with 27 novel amino acids. Microspherophakia in the second family did not map to this locus, suggesting genetic heterogeneity. The present study suggests a role for LTBP2 in the structural stability of ciliary zonules, and growth and development of lens.

This study reports a novel missense mutation in a four-generation Indian family with all but one member affected with J-POAG. The total number of mutations described so far in the MYOC gene, including the one reported here, is 59 with a clustering of 52 mutations in exon 3.

Purpose:The purpose of this study is to study the benefit of addition of oral fenofibrate to the current regimen of diabetic macular edema (DME) management and quantify its effect on macular thickness and visual function in DME.Methods:Fifty-three eyes of 50 patients were randomized into treatment (Group A) (oral fenofibrate 160 mg/day) and control groups (Group B). Both groups underwent treatment of DME as per the standard treatment protocol of our hospital including intravitreal injections (anti-vascular endothelial growth factor/steroid) and grid laser. Patients were followed up every 2 months to note the visual acuity and central macular thickness (CMT) for 6 months.Results:Our groups were matched with respect to age (P = 0.802), mean diabetic age (P = 0.878), serum HbA1C levels (P = 0.523), and serum triglyceride levels (P = 0.793). The mean reduction in CMT was 136 μ in Group A and 83 μ in Group B at the end of 6 months. This difference was statistically significant (P = 0.031). Visual acuity improvement was 0.15 in Group A and 0.11 in Group B at the end of 6 months (P = 0.186). On subgroup analysis in Group A, we found that there was no difference in reduction of CMT between hypertensives and normotensives (P = 0.916), in patients with normal triglyceride levels and increased triglyceride levels (P = 0.975).Conclusion:Addition of fenofibrate to the standard protocol of DME management seems to facilitate reduction of CMT and probably have an added benefit on the visual functions.

BACKGROUND The retinal ganglion cell layer is the first cell layer within the retina to be affected by early glaucoma. Approximately, 50% of Retinal Ganglion Cells (RGC) are located within the macula, it is well known that patients with glaucoma can suffer a 20% to 50% loss of retinal ganglion cells before a defect becomes evident in standard perimetry. Hence, macular imaging is suggested to be a valuable alternative scanning location method for glaucoma diagnosis and assessing neural damage in glaucoma. The aim of the study is to assess the diagnostic ability of perimacular Ganglion Cell Inner Plexiform Layer (GCIPL) thickness in patients with glaucoma using HD-cirrus OCT and its correlation with Retinal Nerve Fibre Layer (RNFL) thickness and other ONH parameters in different optic disc sizes in a tertiary referral eye care centre in southern India. MATERIALS AND METHODS Optic nerve head (200 x 200) and macular imaging (512 x 128) with cirrus HD-OCT was performed on 100 eyes of 66 glaucoma patients and 85 eyes of 50 control patients. Macular GCIPL thickness was assessed and correlated with peripapillary RNFL thickness and ONH parameters like disc area, rim area and cup volume. RESULTS Mean GCIPL thickness was thinner in eyes with glaucoma in comparison to controls (70.64 ± 12.24 micrometers versus 79.58 ± 0.51 micrometers). Mean RNFL thickness in eyes with glaucoma was thinner compared with controls (76.44 ± 16.36 micrometers vs. 90.62 ± 27.57 micrometers). Mean GCIPL segment thickness in all glaucomatous discs showed significant correlation (P<0.05) with corresponding mean RNFL quadrant thickness. Significant correlation was found in large discs (P<0.05), but the level of significance decreased in medium discs (P value-0.05

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BACKGROUND After trabeculectomy, wound remodelling and fibrosis continues lifelong and can affect bleb filtration. Ethnicity plays an important role in wound healing. Wound modulation with Mitomycin C affects the morphology as well as long-term functional success of the bleb. The aim of the study is to assess the morphology of blebs 5 years post trabeculectomy using clinical methods (slit lamp biomicroscopy and Moorfields Bleb Grading System MBGS) along with Anterior Segment Optical Coherence Tomography (AS-OCT) and to correlate it with its functional outcome. MATERIALS AND METHODS This prospective cross-sectional study evaluated 40 eyes of 30 patients who had undergone trabeculectomy with adjuvant mitomycin C and had a postoperative duration of 5 years or more. Following a comprehensive ophthalmic examination, grading of filtering bleb was performed using MBGS. Internal bleb morphology was imaged using AS-OCT. RESULTS At the time of surgery, the age of the patients ranged from 33-71 years. The average postoperative duration was 8.6 ± 3.3 years. Based on slit lamp biomicroscopy, we found that 47% of the total blebs were diffuse, 30% were cystic and 23% were flat. MBGS parameters were studied in relation to bleb type on slit lamp. Bleb height (p=0.001) and central bleb vascularity (p=0.010) were found to have statistically significant association. There is a statistically significant agreement between the bleb type on slit lamp examination and morphological classification based on AS-OCT at p<0.05 (p=0.000). We observed complete success in 90% of eyes and qualified success in 100%. IOP at the time of study was found to have negative correlation with total bleb height on AS-OCT (r:-0.3592; p=0.022909). CONCLUSION This case series with a long-term followup period showed that trabeculectomy augmented with Mitomycin C (MMC) can achieve good long-term IOP control. The filtering bleb morphology using clinical methods (slit lamp biomicroscopy and MBGS) and AS-OCT was found to be consistent; therefore, indicating that clinical grading of bleb morphology is adequate and reliable in clinics in which imaging techniques are not available. In cases where IOP and bleb morphology do not correlate, AS-OCT is a useful tool to assess the internal bleb morphology and enhances our understanding of bleb functioning.

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