Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.

PURPOSE: Retinoschisis is a distinctive condition characterized by intraretinal layer clefts, primarily associated with X-linked recessive inheritance due to RS1 gene mutations. This study aims to uncover the RS1 mutation spectrum in a cohort of 22 X-linked retinoschisis cases from South India and emphasizes the genotypic and phenotypic associations within patients harboring only RS1 mutations. METHODS: A total of 22 probands were suspected of having X-linked retinoschisis. All study subjects underwent ophthalmic investigations, including assessments of visual acuity, fundus examination, optical coherence tomography (OCT), and electroretinogram (ERG). RS1 gene screening was conducted using Sanger sequencing, and the pathogenicity of the variants was assessed through Sorting Intolerant from Tolerant (SIFT) and PolyPhen-2 in silico tools. RESULTS: The study found that the probands had an average visual acuity of 0.79 ± 0.39 log of minimum angle of resolution (logMAR), ranging from 0.17 to 1.77. During fundus examination, the probands exhibited a characteristic spoke wheel-like pattern in the macular region. Furthermore, OCT analysis revealed distinct alterations in the inner retinal microstructure, and ERG results consistently showed a reduction in b-wave amplitude. Eventually, Sanger sequencing results showed hemizygous mutations in the RS1 gene in only 12 probands, including a novel missense mutation in the RS1 gene's signal sequence. CONCLUSION: This study provides valuable insights into the spectrum of RS1 mutations in X-linked retinoschisis probands from South India. It reveals distinct genotypic-phenotypic associations and highlights the clinical manifestations associated with the disease pathogenesis.

Multimodal imaging of congenital retinal macrovessel with secondary foveal hypoplasia.

Congenital retinal macrovessel (CRM) is defined as a large aberrant blood vessel that traverses through the central macula. It can have large tributaries extending on both sides of the horizontal raphe. The condition is typically asymptomatic. However, visual loss may be reported in case of associated branch retinal artery occlusion, cavernous haemangioma, retinal artery macroaneurysm, retinal deep capillary ischaemia, retinal detachment and vitreous haemorrhage. However, association of CRM and foveal hypoplasia has rarely been reported.We report multimodal imaging in a patient who was presented with visual loss due to foveal hypoplasia secondary to CRM.

Retinal detachment in eyes treated with Aurolab aqueous drainage implant for refractory glaucoma - Incidence and outcomes.

Purpose: To analyze the incidence of rhegmatogenous retinal detachment (RRD) in patients who have undergone prior Aurolab aqueous drainage implant (AADI) surgery and report outcomes in terms of anatomic, visual acuity, and intraocular pressure (IOP) findings. Methods: Case records of all patients who underwent RRD repair after AADI surgery from 2013 to 2019 were retrospectively analyzed. Data collected included patient demographics, ocular examination findings at all visits including IOP and best-corrected visual acuity (BCVA) and clinical findings related to RRD both at baseline and postoperatively. Results: Ten eyes of nine patients were included in study. The mean age of patients was 28.2 years (median: 15 years, range: 6-83 years). Mean duration between AADI and RRD was 14 months (median 2.5 months; range 2 days-72 months). All eyes underwent pars plana vitrectomy with silicon oil injection. The preoperative LogMAR BCVA (logarithm of the minimum angle of resolution) was 2.52 ± 0.15 which improved to 2.29 ± 0.58 at final follow-up; however, only one eye had vision ≥ 20/400 largely due to recurrent RRD and advanced glaucomatous disc damage. Postoperatively retina was attached in 6 eyes (60%) and IOP was ≤ 21 mmHg in 5 out of 6 eyes with anatomic success. Conclusion: The incidence of RRD following AADI was found to be 0.86% in our study. Pars plana vitrectomy (PPV) with silicon oil tamponade was the preferred approach in the management of these eyes with IOP being well controlled post PPV. However, visual acuity outcomes were largely unsatisfactory due to recurrent RRD and preexisting advanced glaucoma.

Retinal manifestations in patients with SARS-CoV-2 infection and pathogenetic implications: a systematic review.

INTRODUCTION: The pandemic of COVID-19 has been caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus. Apart from respiratory malfunction, COVID-19 causes a system-wide thromboembolic state, leading to serious cardiovascular, cerebrovascular and peripheral vascular manifestations. However, our knowledge regarding retinal manifestations due to systemic COVID-19 is minimal. This systematic review has comprehensively summarized all retinal manifestations secondary to COVID-19 disease recorded till date since the beginning of the pandemic. METHODS: All studies published till November 27, 2020, which have reported retinal manifestations in COVID-19 patients were systematically reviewed using the PRISMA statement. RESULTS: We included 15 articles: 11 case reports and four cross-sectional case series. The most commonly reported manifestations which did not affect visual acuity were retinal hemorrhages and cotton wool spots. The most common vision threatening manifestation was retinal vein occlusion with associated macular edema. Rarely, patients may also present with retinal arterial occlusions and ocular inflammation. These manifestations may occur from as soon as within a week after the onset of COVID-19 symptoms to more than 6 weeks after. CONCLUSION: Mostly causing milder disease, COVID-19 may however lead to severe life-threatening thromboembolic complications, and systemic antithrombotic therapy has been suggested as a prophylactic and therapeutic management strategy for patients affected with serious systemic disease. However, both sick and apparently healthy patients may suffer from various retinal complications which may lead to loss of vision as well. No consensus regarding management of retinal complications with anticoagulants or anti-inflammatory medications have been proposed; however, they may be tackled on individual basis.

Clinical features and surgical outcomes of complications of proliferative diabetic retinopathy in young adults with type 1 diabetes mellitus versus type 2 diabetes mellitus - A comparative observational study.

PURPOSE: To evaluate the clinical profile, visual outcomes, and complications among young adult patients with type 1 diabetes mellitus (insulin-dependent DM-T1DM) in comparison with patients with type 2 diabetes mellitus (T2DM) undergoing vitrectomy for complications of proliferative diabetic retinopathy (PDR).. METHODS: A retrospective review of patients between 18 and 45 years with T1DM undergoing vitrectomy for complications of PDR between June 2017 and June 2019, with a minimum follow-up of 12 months. Consecutive patients between 30 and 45 years with type 2 diabetes (non-insulin-dependent DM-T2DM) who underwent vitrectomy for the same indications were retrospectively enrolled as the control group. RESULTS: There were 42 eyes (28 patients) in the T1DM group and 58 eyes (47 patients) in the T2DM group. The average age at operation was 35.9 ± 6.88 years and 39.8 ± 3.03 years, respectively (P < 0.001). At the end of follow-up, the mean logarithm of the minimum angle of resolution (logMAR) best-corrected visual acuity (BCVA) improved from 1.53 ± 0.55 to 1.30 ± 0.93 (P value 0.07) in the T1DM group and from 1.59 ± 0.46 to 1.00 ± 0.78 in the T2DM group (P = 0.0001). The rate of the primary and final reattachment was 76.2% and 88.1% in the T1DM group and 84.5% and 96.6% in the T2DM group. Preoperative macular tractional retinal detachment (MTRD) and neovascular glaucoma (NVG) in both the groups, chronic kidney disease (CKD) and lack of preoperative Pan retinal photocoagulation (PRP) in the T1DM group, hypertension (HTN) and, resurgery in the T2DM group, were risk factors for poor vision at the final follow-up. CONCLUSION: The visual and anatomic outcomes were poorer in the T1DM patients which could be due to the longer duration of diabetes with worse glycemic control, associated comorbidities like CKD, and a higher incidence of MTRD.

Evaluation of retinal functional changes after macular hole surgery using heavy brilliant blue G dye for internal limiting membrane staining: A prospective, single blind, randomized controlled trial.

PURPOSE: To evaluate retinal functional changes after idiopathic macular hole (MH) surgery using heavy brilliant blue G (hBBG) dye for internal limiting membrane (ILM) staining. METHODS: Forty-four eyes with idiopathic MH were randomized into two groups - 24 eyes undergoing vitrectomy with ILM peeling using hBBG staining and 20 eyes without staining; anatomical and functional status (with microperimetry (MP)) at baseline and during postoperative follow-up were noted and compared. RESULTS: All eyes had closure of MH postoperatively and overall baseline MP indices (average threshold, AT; foveal sensitivity, FS) improved significantly at 6 weeks and 6 months of follow-up. AT and FS showed significant improvement at 6 weeks and 6 months from baseline in both individual groups (P < 0.001). Intergroup comparison showed that there was no statistically significant difference in AT and FS values at any point of time (baseline, 6 weeks, 6 months) between staining and no-stain group. No eyes in our cohort had any unexplained visual loss. CONCLUSION: Functional parameters of macula improved significantly after successful MH surgery using hBBG for staining the ILM.

Two-staged surgery as an alternative to buckle-vitrectomy for rhegmatogenous retinal detachment complicated by choroidal detachment.

AIM: To evaluate the outcome and safety profile of short-term perfluorocarbon liquids (PFCL) tamponade in comparison with buckle-vitrectomy in case of rhegmatogenous retinal detachment (RRD) associated with choroidal detachment (CD). METHODS: Records of patients who underwent surgery for RRD/CD from January 2016 to July 2019 were reviewed retrospectively. The patients were allocated into two groups-group 1 patients underwent buckle-vitrectomy, while those in group 2 underwent a two-staged vitrectomy with short-term (5 days) PFCL tamponade. RESULTS: The study included 33 eyes (33 patients) with mean age of 50.3 ± 17.2 years. Group 1 included 15 patients, while group 2 included 18. The pre-operative characteristics were similar in both the groups. The mean pre-operative intraocular pressure in group 1 and 2 was 9.1 ± 4.0 and 8.6 ± 5.2 mmHg, respectively (p = 0.755). Retinal re-attachment after single surgery was achieved in 10 (66.7%) and 14 eyes (77.8%), respectively. All the eyes achieved retinal re-attachment after repeat surgery in both the groups (1.40 vs 1.39 surgeries, p = 0.963). Post-surgery visual improvement was seen in 13 (86.7%) and 17 eyes (94.4%), respectively (p = 0.579). Final visual acuity of ≥ 6/60 was obtained in 7 (46.7%) and 9 eyes (50.0%), respectively (p > 0.999). None of the patients needed retinectomy during repeat surgery. None of the patients experienced exaggerated inflammation or intractable raised IOP spike which could not be controlled with medications. CONCLUSION: Surgical outcomes were similar in both the groups. No clinically apparent toxicity was seen with post-operative short-term PFCL tamponade. Two-staged surgery is a good alternative to buckle-vitrectomy for eyes with RRD associated with CD.

To evaluate the effect of COVID-19 pandemic and national lockdown on patient care at a tertiary-care ophthalmology institute.

PURPOSE: To evaluate the effect of COVID-19 pandemic and national lockdown on patient care at a tertiary-care ophthalmology institute. METHODS: Records of all the patients who presented from March 25th to May 3rd, 2020 were scanned to evaluate the details regarding the presenting complaints, diagnosis, advised treatment and surgical interventions. RESULTS: The number of outpatient department visits, retinal laser procedures, intravitreal injections and cataract surgeries during this lockdown decreased by 96.5%, 96.5%, 98.7% and 99.7% respectively compared from the corresponding time last year. Around 38.8% patients could be triaged as non-emergency cases based on history alone while 59.5% patients could be triaged as non-emergency cases after examination. Only eighty-four patients opted for video-consultation from April 15th to May 3rd, 2020. Nine patients presented with perforated corneal ulcer, but could not undergo penetrating keratoplasty due to the lack to available donor corneal tissue. One of these patients had to undergo evisceration due to disease progression. Two patients with open globe injury presented late after trauma and had to undergo enucleation. Around 9% patients could not undergo the advised urgent procedure due to logistical issues related to the lockdown. CONCLUSION: A significant number of patients could not get adequate treatment during the lockdown period. Hospitals need to build capacity to cater to the expected patient surge post-COVID-19-era, especially those requiring immediate in-person attention. A large number of patients can be classified as non-emergency cases. These patients need to be encouraged to follow-up via video-consultation to carve adequate in-person time for the high-risk patients.

Clinical presentation and prognostic factors affecting surgical outcomes of secondary macular holes after retinal vein occlusions.

PURPOSE: To describe clinical presentation, morphological features and surgical outcomes of macular hole (MH) secondary to retinal vein occlusion (RVO). METHOD: This prospective interventional study evaluated eight eyes with atypical MH (secondary to RVO) and data regarding medical management, pars plana vitrectomy, postoperative anatomical hole closure, visual acuity improvement, morphological features of hole were noted till the last follow-up. RESULTS: Eight eyes with full-thickness MH in an RVO eye were followed-up for a minimum period of 3 months postoperatively. Five subjects had a RVO episode which occurred more than 6 months before the onset of the recent symptoms (Group 1; 4 branch RVO and 1 central RVO), and 3 subjects had a recent onset branch RVO within 6 months (Group 2). All FTMH cases except one showed closure at the last follow-up. Visual acuity of all eyes improved from 0.91 ± 0.57 logMAR to 0.5 ± 0.3 logMAR (p = 0.093). At baseline, visual acuities of the two groups had no significant difference. Postoperatively, group 1 holes had better visual prognosis, than Group 2 holes, further substantiated by persistence of subretinal fluid in Group 2 eyes till last follow-up. Minimum hole diameter was higher in the recent RVO group, although anatomical closure was obtained in all of these eyes. Most holes had favorable morphological hole features like raised configuration with rounded edges. CONCLUSION: In the presence of favorable morphological features, secondary macular holes associated with retinal vein occlusion may show optimal outcomes after surgery. It is not clear whether acutely created holes in recent onset RVO should be operated early. Older holes may have better prognosis.

Management of double optic disc pit complicated by maculopathy.

Optic disc pit (ODP) is a rare, congenital, cavitary anomaly of the optic disc. Usually, single ODP occurs in an eye and only eleven cases of double ODP have been reported so far in the literature. In the present study, we report a case of unilateral double ODP, with both the pits present in opposite disc segments. They were associated with serous retinal detachment at the macula and retinal pigment epithelium degeneration nasal to disc. The case was managed successfully with vitrectomy, internal limiting membrane peeling, plugging the pits with homologous partial-thickness scleral flaps, and gas tamponade.

Intermediate-term outcomes of pars plana tube insertion of Aurolab aqueous drainage implant for refractory glaucoma.

PURPOSE: To report the safety and efficacy of parsplana tube insertion of Aurolab aqueous drainage implant(AADI) in patients with refractory glaucoma. METHODS: Charts of patients with refractory glaucoma who underwent AADI via the parsplana route between June 2014 and June 2018with a minimum follow-up of 6 months were retrospectively reviewed. Success was defined as complete when the intraocular pressure (IOP) was ≥5 and18 mmHg or IOP reduction was >30%from baseline without antiglaucoma medication (AGM) andas qualified if requiring additional AGMs. RESULTS: The study included 63 eyes of 63 patients with a mean age of 36.1±20.6 years and a mean follow-up of 19.7±15.7 months. Glaucoma postvitreoretinal surgery was the the most common aetiology (22 eyes, 35%). The mean IOP reduced from 36.6±10.7 mmHg to15.7±8.2 (57.1%), 15.02±7.3 (60%) and 17.2±8.5 mmHg (53%)at 6 months and 1 and 2 years, respectively. Kaplan-Meier estimates showed that the cumulative probabilities of failure were 8% (95% CI4.3% to 22.4%) at 6 months, 23% (95%CI12.8% to 38.6%) at 1 year, 30% (95%CI17.4% to 45.9%) at 18 months and 47% (95% CI13.4% to 64.9%) at the 2 years time points.Vitreous blocking tube tip was noted up to 8% of eyes on follow-up. CONCLUSION: Pars plana AADI insertion is a useful procedure for the control of IOP in patients with refractory glaucoma.

Ocular manifestations of Rickettsia conorii in South India.

PURPOSE: Among the major groups of rickettsiosis, the commonly reported diseases in India are: (a) Typhus group induced-scrub typhus, murine flea-borne typhus; (b) Spotted fever group induced-Indian tick typhus; and (c) Q fever. Though many scrub typhus outbreaks have been reported from India, only one outbreak of spotted fever-serologically proven Indian tick typhus (Rickettsia conorii)-has been reported. We report for the first time ocular manifestations of serologically proven R. conorii infection in a cluster of patients. METHODS: In this retrospective study, case records patients with serologically proven Indian tick typhus (Rickettsia conorii) were reviewed for clinical manifestations and treatment outcomes. RESULTS:: In the months of February to April 2016, a cluster of 12 patients (23 eyes) visited us with defective vision. Examination showed multifocal retinitis; mostly bilateral; patients had a history of fever approximately 4 weeks prior to onset of symptoms. After excluding other causes of multifocal retinitis, a diagnosis of rickettsial retinitis was made after Weil-Felix test (WFT) was significantly positive, and enzyme-linked immunosorbent assay was positive for R. conorii. Course of the disease, visual outcome, and investigations are discussed. Doxycycline along with oral corticosteroids was effective in treating the condition. CONCLUSION:: Systematic fundus examination should be part of the routine evaluation of any patient who presents with fever and/or skin rash living in or returning from a specific endemic area. Clinical clues to diagnosing ocular rickettsiosis could be multifocal retinitis predominantly involving the posterior pole and macular involvement in the form of serous macular detachment or macular hard exudates. A positive WFT still serves as a useful and cheap diagnostic tool for laboratory diagnosis of rickettsial disease. Doxycycline along with oral corticosteroids was effective in treating the condition.