ABSTRACT
Purpose: Bietti crystalline dystrophy (BCD) is a rare retinal dystrophy, uncommon in Indians. This study describes the various phenotypic features seen in the Indian population. Methods: In this retrospective, descriptive case series, records of patients with either clinical or molecular diagnosis of BCD from 2009 to 2020 were perused. Phenotypic and genotype information was collected and analyzed. Results: This study included 58 patients of BCD (31 males) aged 21–79 years (mean: 47 ± 14 years). The age at onset ranged from 7 to 41 years (mean: 28.8 ± 5.1 years). Vision ranged from 20/20 to counting fingers. There were 18 (31%) patients with stage 1 with crystals and mild retinochoroidal atrophy, 22 (38%) with stage 2 with atrophy extending beyond arcades, and 18 (31%) with absent crystals and extensive atrophy of stage 3. Choroidal neovascular membrane was seen in four patients. The optical coherence tomography showed retinochoroidal thinning (84.6%), outer retinal tubulations (71.8%), and paradoxical foveal thickening with interlaminar bridges (7.7%). Electrophysiology and visual fields showed reduced responses in advanced retinochoroidal changes. Molecular confirmation was available in five patients; five mutations were seen in the CYP4V2. Conclusion: A wide variation is seen in the phenotypic picture of BCD. A molecular diagnosis is helpful in differentiating from other retinal dystrophies. The OCT shows the peculiar feature of the interlaminar bridge in early cases with photoreceptor loss. Further investigations into this OCT feature may provide insights into the pathogenesis of BCD. A genotype–phenotype correlation could not be done.
ABSTRACT
Purpose: To assess anterior chamber configuration changes during phacoemulsification in primary angle?closure suspect (PACS/PAC) and primary open?angle glaucoma (POAG). Methods: Prospective observational comparative study of anterior segment optical coherence tomography (AS?OCT) findings before and after phacoemulsification on three groups of patients (PACS/PAC, POAG, and controls). Data were collected over a period of 9 months. Main outcome measures included mean change in anterior chamber depth (ACD), angle opening distance (AOD), and trabecular iris space area (TISA). Results: 153 patients (51 PACS/PAC, 51 POAG, and 51 controls) were included in the study. Change in all parameters (ACD, AOD at 500 um, and AOD at 750 um) between the groups demonstrated a greater change in PACS/PAC as compared to POAG and controls. AOD at 750 ?m in the temporal quadrant, which has been considered to be having the highest correlation or best representation of the angle, increased in all groups after phacoemulsification (463.59 ± 10.99 vs. 656.27 ± 9.73 mm in PACS; 521.29 ± 16.36 vs. 674.37 ± 8.72 mm in POAG; 549.27 ± 12.40 vs. 702.82 ± 13.04 mm in controls, (P < 0.001). After phacoemulsification, intraocular pressure (IOP) decreased by 2.75 ± 1.17 mm Hg in PACS/PAC (P < 0.001), 2.14 ± 1.33 mm Hg in POAG and 1.90 ± 1.25 mm Hg in controls and it was statistically significant in the PACS group compared to control (P < 0.001). Conclusion: Phacoemulsification with intraocular lens implantation is associated with increase in the ACD and angle parameters and a corresponding decrease in IOP. Findings were more pronounced in PACS/PAC suggesting early phacoemulsification may be a treatment option in this group