Childhood cone-rod dystrophy with macular cyst formation in ABCA4 mutation identified by serial spectral-domain optical coherence tomography.

Cone-rod dystrophy (CORD) is a type of progressive hereditary retinal dystrophies that causes cone predominant photoreceptor degeneration characterized by wide genotypic and phenotypic heterogeneity. Macular cyst (MC) occurs very infrequently in the pediatric age group and has rarely been described in CORD. We report a case of young-onset CORD that was affected by an isolated ABCA4 mutation complicated by the development of MC. Through serial spectral-domain ocular coherence tomography MC has been observed to persist for 24 months before its resolution, followed by retinal thinning and macular atrophy with corresponding visual acuity decline. The formation of MC and visual acuity appeared to be directly correlated in ABCA4-related CORD and its manifestation is invaluable in predicting eventual visual loss. We further speculate that dysfunctional outer blood-retinal barrier may play a role in the pathophysiology of MC development in CORD.

Improper Use of the Germicidal Range Ultraviolet Lamp for Household Disinfection Leading to Phototoxicity in COVID-19 Suspects.

PURPOSE: To report the germicidal range ultraviolet (UV) irradiation-induced phototoxicity because of unprotected exposure to the UV lamps for presumed household disinfection of SARS-CoV-2 in a domestic setting. METHODS: We report on a family of 3 adults who experienced photophobia, intense eye pain, epiphora, blurred vision, and a burning sensation over the face and neck area after a short period of unprotected exposure to the UV germicidal lamps. RESULTS: An initial examination revealed erythema and tenderness over the face and neck area, reduced visual acuity of 6/12, and conjunctival injections bilaterally in all 3 patients. Further assessment at the ophthalmology department 3 days later revealed gradual improvement of visual acuity to 6/6 bilaterally. Slit-lamp examinations revealed few punctate epithelial erosions. Fundal examinations were normal without evidence of solar retinopathy. The patients were diagnosed with germicidal range UV irradiation-induced photokeratitis and epidermal phototoxicity. Lubricants and emollients were prescribed for symptom relief, and the patients were warned against using a UV germicidal lamp for disinfection purposes without appropriate protection. CONCLUSIONS: Although SARS-CoV-2 is structurally akin to SARS-CoV-1 and MERS-CoV, and previous studies demonstrated high levels of inactivation of beta-coronavirus with germicidal-range UV, evidence for its efficacy to inactivate SARS-CoV-2 is lacking. This case report serves to emphasize the potential consequences of phototoxicity from the improper use of UV germicidal lamps for household disinfection and to highlight the fact that UV germicidal lamps currently have no established role in household disinfection of SARS-CoV-2.

Orbital hybrid peripheral nerve sheath tumors.

Hybrid peripheral nerve sheath tumors (HPNST) are recently classified tumors from the World Health Organization Classification of soft tissue tumors that display combined features of more than one peripheral nerve sheath tumor. Acknowledgment is important because of its association with the development of neurofibromatosis type 1, type 2, and schwannomatosis. Orbital involvement is rare and only six cases of HPNST have been documented on literature. This article serves to review the pathophysiology, clinical manifestation, diagnosis, treatment, and prognosis of this infrequent but important orbital tumor.

Primary recurrent orbital schwannoma treated with surgical excision and Mitomycin-C.

PURPOSE: Primary orbital schwannoma (POS) is a slow growing, benign encapsulated peripheral nerve sheath tumor that occurs infrequently within the orbit. Recurrence of POS is extremely rare. Previous speculations for reasons of recurrence include incomplete excision and tumor seeding. OBSERVATIONS: We present the fifth case reported in the literature to date of POS that had 2 episodes of recurrences within 8 years after diagnosis, in which rapid and insidious relapses were observed after initial surgical resection. This is also the first reported recurrent POS in which topical Mitomycin-C (MMC) has been employed during surgical excision with an aim to prevent further recurrences. CONCLUSIONS: AND IMPORTANCE: Whilst complete surgical excision remained the standard for management for most POS, when there are multiple recurrences and in cases where total excision is not possible, addition of topical MMC may be an option that may bring about tumour regression as demonstrated in our case.

Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication.

BACKGROUND: Microphthalmia, anophthalmia, coloboma (MAC) complex is a spectrum of ocular abnormalities that occur in isolation or as part of a syndrome. Genetic abnormalities have been shown to account for 80% of cases in bilateral anophthalmia or severe microphthalmia, where 25-30% were attributed to chromosomal defects in this subset of MAC patients. To date, chromosome 9 short arm (9p) abnormalities have not been shown to associate with development of MAC. PURPOSE: To report a case of MAC spectrum disorder that is related to 9p deletion and duplication. MATERIALS AND METHODS: A child who exhibited signs of MAC was evaluated retrospectively. Genetic analysis with comparative genomic hybridization (CGH) and a family pedigree was obtained from the proband. RESULTS: A 3-year-old girl with a history of an atrial septal defect, a horseshoe kidney and global developmental delay was presented. Ophthalmic examination revealed bilateral iris coloboma, bilateral choroidal-retinal coloboma, and left-sided microphthalmia. Subsequent oligonucleotide-based array CGH revealed two different sites of duplication and deletion on 9p (9p24.3 (209020_1143516)x1, 9p24.3p24.1 (1158662_6395264)x3). CONCLUSION: We present the first case of MAC spectrum disorder that is related to 9p deletion and duplication. The link between the associated genetic abnormality and the phenotypic features is yet to be established. Duplication of JAK2 gene, which is within the same region of abnormalities, may have potentiated the development of MAC spectrum disease.

Ophthalmic Manifestation of Tsukamurella Species: A Case Series and First Report of Ocular Implant Infection After Enucleation.

PURPOSE: Tsukamurella is an important and emerging organism that causes opportunistic human infection. We present the largest case series of Tsukamurella species-associated ophthalmic infections, with an emphasis on clinical spectrum, risk factors, treatment, and outcome. METHODS: A case series of culture-positive Tsukamurella species in ocular microbiological specimens was identified retrospectively from 2005 to 2018. Tsukamurella species were identified by phenotypic, molecular, and genotypic methods. Diagnoses were clinical and were supplemented by microbiological findings. Treatment including antibiotic type, number of antibiotics, treatment duration, and clinical outcome was documented. RESULTS: Eleven cases of culture-positive Tsukamurella ocular infection were identified. Of these 54.5% (6/11) of cases resulted in conjunctivitis, 18% (2/11) of cases resulted in keratitis, and 9% (1/11) of cases resulted in blepharitis. One case of canaliculitis and 1 case of postenucleation ocular implant-related infection were reported, which were both novel findings. The presence of ocular implant and preexisting ocular surface diseases such as exposure keratopathy and ectropion were thought to be predisposing factors. We have demonstrated that treatment of Tsukamurella ocular conjunctivitis, keratitis, and blepharitis was effective using a combination therapy of 2 antibiotics (fluoroquinolone, fusidic acid, or chloramphenicol). Canaliculitis and ocular implant infection required further addition of oral antibiotics (macrolide or doxycycline), canaliculotomy, and removal of the infected implant for satisfactory management. CONCLUSIONS: Tsukamurella tyrosinosolvens and Tsukamurella pulmonis were found to be the predominant species that caused ocular infection. Ocular manifestation of Tsukamurella has a wider spectrum than that previously reported. A high-level of suspicion and a low threshold for microbiological sampling in cases with prolonged ocular surface infection are recommended to diagnose Tsukamurella infections.