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To report a rare case of Birt-Hogg-Dubé Syndrome (BHD) with progressive chorioretinopathy. Case report. A 55-year-old woman presented with longstanding nyctalopia attributed to a congenital retinal dystrophy, but no prior genetic testing. Her posterior pole examination demonstrated retinal pigment epithelium (RPE) mottling with extensive macular drusen and paracentral chorioretinal atrophy, consistent with a fleck retinopathy. Her past medical history was remarkable for nephrectomy for unilateral renal malignancy, parotid tumors and thyroid nodules. Dark adaptation time was prolonged, and electroretinography (ERG) revealed abnormal waveforms with depressed amplitudes. Genetic testing confirmed a deletion mutation in the folliculin (FLCN) gene and was negative for other relevant mutations, including EFEMP1 responsible for autosomal dominant macular and peripapillary drusen in Doyne honeycomb retinal dystrophy and TIMP3 responsible for Sorsby Fundus Dystrophy. BHD is a rare autosomal-dominant disorder with multi-systemic clinical manifestations caused by a mutation in the FLCN gene. Affected individuals are prone to renal and pulmonary cysts, renal cancer, and fibrofolliculomas. Reports on ocular manifestations of BHD include eyelid fibrofolliculomas, flecked chorioretinopathy, choroidal melanoma, choroidal melanoma with sector melanocytosis, and retinal pigment epithelial micro-detachments. In this case of BHD, we note a fleck retinopathy with bilateral chorioretinal atrophy, displaying a phenotype of extensive chorioretinopathy associated with impaired dark adaptation and ERG abnormalities. BHD: Birt-Hogg-Dubé syndrome; FLCN: Folliculin. RPE: retinal pigment epithelium; OD: Oculus dexter (right eye); OS: Oculus sinister (left eye). OU: Oculus uterque (both eyes); ERG: electroretinogram; mfERG: multifocal electroretinography. ffERG: full-field electroretinography; FAF: fundus autofluorescence; OCT: optical coherence tomography; FA: fluorescein angiography; DA: dark-adapted; LA: light-adapted; mTOR: mammalian target of rapamycin; EFEMP1: epithelial growth factor-containing fibulin-like extracellular matrix protein 1; VPS13B: Vacuolar Protein Sorting 13 Homolog B; AGBL5: AATP/GTP-Binding Protein Like 5; ALMS1: Alstrom Syndrome 1; COL1BA1: Collagen Type I Beta, Alpha Chain 1; PDE6A: Rod Phosphodiesterase 6-alpha; USH2A: Usherin 2a; VCAN: Versican; RP: Retinitis pigmentosa; AR: Autosomal recessive. [ABSTRACT FROM AUTHOR]

The main contact lens for pediatric aphakia has historically been a silicone elastomer lens (Silsoft SuperPlus). Due to supply chain disruption, many aphakic children required an alternative lens. We performed quantitative and qualitative comparisons between Silsoft SuperPlus and alternative aphakic soft contacts. Sixty-nine aphakic eyes of 49 patients wearing Silsoft SuperPlus lenses underwent the refitting process into an alternative soft contact. Data collected included lens parameters, visual acuity, keratometry, horizontal visible iris diameter, and over-refraction. A 6-question survey assessing the patients'/guardians' experience with Silsoft SuperPlus versus the alternative lens was conducted at initial fit and 1–3 months post-fit. Twenty-four patients (49 %), 4(8 %), and 1(2 %) were refit into Flexlens Definitive 74, Biofinity XR, and Intelliwave Pro Toric lenses, respectively. Sixteen patients (34 %) remained in Silsoft SuperPlus due to personal lens surplus or inability to handle the new lens while 2(4 %) opted for glasses. Silsoft SuperPlus was typically successful in eyes with average keratometry (AveK) 7.4–7.6 mm. Flexlens Definitive 74 required a base curve 0.4 mm steeper than the AveK. Patients'/guardias' reported a trend toward greater comfort with handling Silsoft SuperPlus, however, patients experienced less adverse side effects with the alternative soft contact lenses. Flexlens Definitive 74 was an adequate alternative to Silsoft SuperPlus in aphakic children, however lens parameters must be steepened. Keratometry streamlined the contact lens fitting process. Alternative soft lenses are a cost-effective alternative to Silsoft contact lenses. [ABSTRACT FROM AUTHOR]

We report two cases of optic nerve pathology after the administration of the Pfizer-BioNTech and AstraZeneca-Oxford COVID-19 vaccines, respectively, and describe the implications for management of post-vaccination central nervous system (CNS) inflammation. A 69-year-old woman presented with bilateral optic nerve head oedema, 16 days after the second dose of the Pfizer-BioNTech vaccine. She was diagnosed with post-vaccination CNS inflammatory syndrome and was treated for five days with intravenous methylprednisolone at a dose of 1 gram per day. Her optic disc swelling improved, and her vision stabilised. A 32-year-old woman presented six days after her first dose of the AstraZeneca-Oxford vaccine with two days of sudden onset of progressive blurring of vision in her left eye. Posterior segment examination revealed left optic disc swelling, and an MRI of the brain, orbit, and cervical spine was significant for left optic nerve enhancement. The patient was diagnosed with a unilateral post-vaccination optic neuritis. She was treated with a three-day course of intravenous methylprednisolone followed by oral prednisone. Her optic disc swelling and visual field improved, and she recovered 6/6 vision. Clinicians and patients should be aware of the potential for post-vaccination CNS inflammatory syndromes associated with COVID-19 vaccine administration. Neuroimaging and cerebrospinal fluid analysis may aid in the diagnosis of the cause of vision loss. Further studies are needed to evaluate the spectrum and frequency of optic nerve involvement associated with COVID-19 vaccination. [ABSTRACT FROM AUTHOR]