Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.

Purpose: Hereditary causes are an important etiological category of childhood blindness. This study reports the real-world experience of a developing ocular genetic service. Methods: The study was carried out from Jan 2020 to Dec 2021 jointly by the Pediatric Genetic Clinic and the Department of Ophthalmology of a tertiary care hospital in North-West India. Children presenting to the genetic clinic with congenital or late-onset ocular disorder(s) and any individual (irrespective of age) suffering from an ophthalmic disorder and referred by an ophthalmologist for genetic counseling for himself/herself and/or his/her family member(s) were included. Genetic testing (exome sequencing/panel-based sequencing/chromosomal microarray) was outsourced to third-party laboratories with the cost of the test being borne by the patient. Results: Exactly 8.6% of the registered patients in the genetic clinic had ocular disorders. Maximum number of patients belonged to the category of anterior segment dysgenesis, followed by microphthalmia anophthalmia coloboma spectrum, lens disorders, and inherited retinal disorders in decreasing numbers. The ratio of syndromic ocular to isolated ocular disorders seen was 1.8:1. Genetic testing was accepted by 55.5% of families. The genetic testing was clinically useful for ~35% of the tested cohort, with the opportunity for prenatal diagnosis being the most useful application of genetic testing. Conclusion: Syndromic ocular disorders are seen at a higher frequency compared to isolated ocular disorders in a genetic clinic. Opportunity for prenatal diagnosis is the most useful application of genetic testing in ocular disorders.

Subretinal Aspergillus Abscess in Post COVID-19 Recovered Patients - An Emerging Problem.

PURPOSE: To describe endogenous endophthalmitis in the setting of Covid-19 pneumonia post recovery. METHODS: Retrospective review of five patients of endogenous endophthalmitis following Covid-19 disease done. RESULTS: All five cases had received systemic corticosteroid for a mean duration of 7 days during severe Covid-19 treatment. Decrease vision was presenting symptom between 1 and 31 days following Covid-19 recovery. All patients had presumed fungal endogenous endophthalmitis based on clinical profile. Four out of five patients subjected to pars plana vitrectomy had microbiologically proven aspergillus species endogenous endophthalmitis on vitreous fluid assessment; two cases each of aspergillus niger and aspergillus fumigates. Four eyes underwent pars plana vitrectomy with silicone oil injection had shown satisfactory anatomical outcome with control of the infection; however, no significant visual gain achieved. CONCLUSION: We reported five cases of aspergillus endogenous endophthalmitis in Covid-19 recovered patients to document the likely presentation of this rising entity and avoid misdiagnosis.

Ophthalmic manifestations of proboscis lateralis.

Proboscis lateralis (PL) is a rare congenital malformation of the craniofacial structure with varied clinical associations. None of the studies documented a discrete review of ophthalmic presentations in PL. The principal aim of the present study is to explore the ophthalmic manifestations of PL. The ancillary goal is to derive a relationship between congenital deformity in PL and various ophthalmic anomalies. Databases were searched in order to obtain articles related to PL. A qualitative systematic analysis of 100 subjects was performed. In PL, eyelid coloboma (32.6%) is the most common ocular feature, followed by hypertelorism (25.3%), iris coloboma (22.4%), lacrimal system abnormality (20.7%), malpositioned eyebrow (14.4%) and retinochoroidal coloboma (12.9%). Sinonasal deformity is the most common systemic abnormality, detected in 87.9% of cases of PL, as compared with central nervous system involvement (56.2%) and other anomalies. The analysis showed a strong significant association between brain abnormalities and hypertelorism (p=0.000) and between brain abnormalities and micro-ophthalmia/anophthalmia (p=0.000). Statistically significant association was noted between cumulative ocular abnormalities and cumulative systemic abnormalities (p=0.001). The present study on PL reviewed the salient features of this rare congenital disorder. The study outcome provides a new aspect to concomitant ocular abnormalities. This study supports the view that other congenital anomalies in cases of PL had significant influence on certain ophthalmic anomalies.

COVID-19-associated rhino-orbital- cerebral mixed mycoses with intracranial fungal granuloma - An aggressively managed rare entity.

Rhino-orbital-cerebral mucormycosis (ROCM) with intracranial extension is a fatal disease. A case of extensive ROCM, with rare intracranial fungal granuloma, seen in a COVID-19 positive young male is described. A successful therapy consisting of a multidisciplinary approach for sinuses debridement, orbital exenteration, and intracranial granuloma excision was done. Nonseptate hyphae of Mucor and septate filamentous Aspergillus grew concurrently from exenterated orbital specimen.

Epidemiology, clinical profile, management, and outcome of COVID-19-associated rhino-orbital-cerebral mucormycosis in 2826 patients in India - Collaborative OPAI-IJO Study on Mucormycosis in COVID-19 (COSMIC), Report 1.

Purpose: COVID-19-associated rhino-orbital-cerebral mucormycosis (ROCM) has reached epidemic proportion during India's second wave of COVID-19 pandemic, with several risk factors being implicated in its pathogenesis. This study aimed to determine the patient demographics, risk factors including comorbidities, and medications used to treat COVID-19, presenting symptoms and signs, and the outcome of management. Methods: This was a retrospective, observational study of patients with COVID-19-associated ROCM managed or co-managed by ophthalmologists in India from January 1, 2020 to May 26, 2021. Results: Of the 2826 patients, the states of Gujarat (22%) and Maharashtra (21%) reported the highest number of ROCM. The mean age of patients was 51.9 years with a male preponderance (71%). While 57% of the patients needed oxygen support for COVID-19 infection, 87% of the patients were treated with corticosteroids, (21% for > 10 days). Diabetes mellitus (DM) was present in 78% of all patients. Most of the cases showed onset of symptoms of ROCM between day 10 and day 15 from the diagnosis of COVID-19, 56% developed within 14 days after COVID-19 diagnosis, while 44% had delayed onset beyond 14 days. Orbit was involved in 72% of patients, with stage 3c forming the bulk (27%). Overall treatment included intravenous amphotericin B in 73%, functional endoscopic sinus surgery (FESS)/paranasal sinus (PNS) debridement in 56%, orbital exenteration in 15%, and both FESS/PNS debridement and orbital exenteration in 17%. Intraorbital injection of amphotericin B was administered in 22%. At final follow-up, mortality was 14%. Disease stage >3b had poorer prognosis. Paranasal sinus debridement and orbital exenteration reduced the mortality rate from 52% to 39% in patients with stage 4 disease with intracranial extension (p < 0.05). Conclusion: : Corticosteroids and DM are the most important predisposing factors in the development of COVID-19-associated ROCM. COVID-19 patients must be followed up beyond recovery. Awareness of red flag symptoms and signs, high index of clinical suspicion, prompt diagnosis, and early initiation of treatment with amphotericin B, aggressive surgical debridement of the PNS, and orbital exenteration, where indicated, are essential for successful outcome.