Inherited causes of combined vision and hearing loss: clinical features and molecular geneticsGuimaraes, Thales Antonio Cabral de; Arram, Elizabeth; Shakarchi, Ahmed F; Georgiou, Michalis; Michaelides, Michel
doi: 10.1136/bjo-2022-321790pmid: 36162969
Combined vision and hearing loss, also known as dual sensory impairment, can occur in several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler, Waardenburg, Alport and Alstrom syndrome. The retinal phenotype may point to the diagnosis of such disorders. Herein, we aim to provide a comprehensive review of the molecular genetics and clinical features of the most common non-chromosomal inherited disorders to cause dual sensory impairment.
Extending the utility of anterior corneal buttons through refrigeration and glycerol cryopreservation: utility rate and outcome analysisLiu, Hsin-Yu; Chu, Hsiao Sang; Chen, Wei-Li; Wang, I-Jong; Hu, Fung-Rong
doi: 10.1136/bjo-2022-321433pmid: 35790341
Background/aimsTo evaluate the utility rate, indication, outcome, and cost of refrigeration and glycerol cryopreservation for storing anterior corneal buttons during endothelial keratoplasty for subsequent use in tectonic lamellar patch grafting.MethodAnterior corneal buttons collected after precutting or prestripping during endothelial keratoplasty from January 2014 to December 2019 were preserved using the following protocol: (1) refrigeration for up to 4 weeks at 4°C in Optisol-GS and (2) glycerol cryopreservation for up to 2 years. The utility rate, outcome and cost of these cryopreserved anterior corneal buttons were retrospectively examined.ResultsDuring the 6-year study period, 26 anterior corneal buttons were refrigerated and 49 were cryopreserved for extended use. The utility rates for the refrigerated and cryopreserved anterior corneal buttons were 69.2% and 73.5%, respectively. Their average preservation periods were 0.53±0.05 and 12.76±0.94 months, respectively. Noninfection-related perforation was the leading indication for using the extendedly preserved anterior corneal buttons. The average postoperative follow-up periods were 10.03±2.91 and 14.35±2.17 months for refrigerated and cryopreserved anterior corneal buttons. Secondary keratoplasty was required by 7 of 18 (38.9%) and 6 of 36 (16.7%) patients receiving refrigerated and cryopreserved anterior corneal buttons, respectively. None of our patients developed graft infection from donor tissues.ConclusionCryopreservation can safely extend the utility of anterior corneal buttons. This method not only reduced the wastage of the limited donor tissue but also was cost-effective.
Effect of eyelid muscle action and rubbing on telemetrically obtained intraocular pressure in patients with glaucoma with an IOP sensor implantvan den Bosch, Jacqueline J O N; Pennisi, Vincenzo; Mansouri, Kaweh; Weinreb, Robert N; Thieme, Hagen; Hoffmann, Michael B; Choritz, Lars
doi: 10.1136/bjophthalmol-2021-320508pmid: 35701079
BackgroundPatients with glaucoma on topical glaucoma medication are often affected by dry eye symptoms and thus likely to rub or squeeze their eyelids. Here, we telemetrically measure peak intraocular pressure (IOP) during eyelid manoeuvres and eyelid rubbing.MethodsEleven patients with primary open-angle glaucoma (POAG) previously implanted with a telemetric IOP sensor (Eyemate-IO) were instructed to look straight ahead for 1 min as a baseline measurement. Next, 6 repeats of blinking on instruction with 10 s intervals in between were performed. In addition, 5 repeats of eyelid closure (n=9), eyelid squeezing and eyelid rubbing (n=7) were performed with 15 s intervals in between. IOP was recorded via an external antenna placed around the study eye. Average peak IOP increases from baseline were analysed and tested against zero (no change) with one-sample t-tests.ResultsFor eyelid rubbing, the average peak ∆ IOP increase (mean±SEM) was 59.1±9.6 mm Hg (p<0.001) from baseline. It was 42.2±5.8 mm Hg (p<0.0001) for eyelid squeezing, 3.8±0.6 mm Hg (n=9, p<0.01) for eyelid closure and 11.6±2.4 mm Hg (p<0.001) for voluntary blinking. No IOP change except for a short irregularity in the ocular pulse was observed during involuntary blinking.ConclusionEyelid manoeuvres in patients with POAG elicited brief increases in IOP that were particularly large with squeezing and rubbing. Further investigation of the potential implications for glaucoma progression is warranted.
Parapapillary choroidal microvascular density in acute primary angle-closure and primary open-angle glaucoma: an optical coherence tomography angiography studySuwan, Yanin; Aghsaei Fard, Masoud; Vilainerun, Nantinee; Petpiroon, Purit; Tantraworasin, Apichat; Teekhasaenee, Chaiwat; Ritch, Robert; Kafieh, Rahele; Hojati, Sahar; Supakontanasan, Wasu
doi: 10.1136/bjo-2021-321022pmid: 35831203
Back ground/aimsTo determine whether parapapillary choroidal microvasculature (PPCMv) density, measured by optical coherence tomography angiography, differed between acute primary angle-closure (APAC), primary open-angle glaucoma (POAG) and controls.MethodsThis is a prospective, cross-sectional, observational study. Data from 149 eyes from two academic referral centres were analysed. Automated PPCMv density was calculated in inner and outer annuli around the optic nerve region in addition to the peripapillary superficial vasculature, using customised software. A generalised estimating equation was used to compare vessel densities among groups, adjusted for confounders.ResultsData from 40 eyes with APAC, 65 eyes with POAG and 44 eyes in healthy controls were gathered and analysed. Global radial peripapillary capillary densities were reduced in eyes with APAC and POAG compared with controls (p=0.027 and 0.136, respectively). Mean outer annular PPCMv density in the POAG group was lower vs the APAC group by 3.6% (95% CI 0.6% to 6.5%) (p=0.018) in the multivariable model adjusted for confounders. The mean difference in inner and outer superior PPCMv between the POAG and APAC groups was 5.9% and 4.4% (95% CI 1.9% to 9.9% and 1.0% to 7.7%, respectively; both p<0.010). Furthermore, POAG and APAC groups both had significantly lower PPCMv compared with controls (both, p<0.001).ConclusionsWhile superficial peripapillary vessels were affected to similar degrees in POAG and APAC, PPCMv drop-out was greater with POAG versus APAC, suggesting that choroidal vessel density may be affected to a lesser extent following an acute increase in intraocular pressure before glaucoma develops.
Importance of subfoveal fluid height on visual outcome in macula-off retinal detachmentsBaumann, Carmen; Almarzooqi, Ahmed; Johannigmann-Malek, Navid; Maier, Mathias; Kaye, Stephen
doi: 10.1136/bjo-2022-321604pmid: 35864777
AimsTo investigate the effect of subfoveal fluid height (SFFH) on visual outcome after macula-off retinal detachment (RD) repair.MethodsProspective interventional case series of consecutive patients undergoing pars plana vitrectomy with gas tamponade (PPV) for primary macula-off RD with duration of symptomatic loss of central vision (LCV) of ≤1 week. Preoperative SFFH was measured on two occasions an hour apart using optical coherence tomography (OCT) by two independent observers. Postoperative best corrected visual acuity (BCVA) was measured at 3 months.ResultsSixty-one patients were included. All patients were pseudophakic after RD repair. The mean preoperative and postoperative BCVA (logarithm of the minimum angle of resolution) at 3 months was 1.41 (±0.71) and 0.15 (±0.12, range 0.00–0.70). Twenty-six patients with SFFH of ≤1500 µm were available for repeat OCT measurements. The variation in SFFH was proportional to the SFFH and showed a logarithmic (base 2) association (r=0.50, p=0.01). Patients were therefore grouped according to their SFFH as group 1: 1–100 µm, group 2: 101–300 µm, group 3: 301–700 µm, group 4: 701–1500 µm and group 5: 1501–3100 µm. BCVA at 3 months significantly reduced with increasing SFFH from 0.04 (±0.03) in group 1 to 0.28 (±0.15) in group 5 (p<0.001) but was not associated with age (p=0.77), preoperative BCVA (p=0.39), duration of LCV (p=0.63) or use of perfluorocarbon liquids (p=0.88). Forty-five patients had SFFH ≤1500 µm and achieved 0.10 (±0.07, range 0.00–0.30) logMAR.ConclusionVisual acuity following PPV for macula-off RD is related to preoperative SFFH regardless of the duration of symptomatic LCV within the first week.