UNASSIGNED: To study and compare the clinical characteristics and outcome of ocular syphilis between HIV positive and HIV negative patients.
UNASSIGNED: Retrospective hospital-based case series from a tertiary eye care hospital in India. Patients with uveitis and positive syphilis serology were included. Demographics, clinical features, investigations, imaging and treatment modalities were noted.
UNASSIGNED: Hundred and five (105) eyes of 66 patients were analyzed. Males were predominantly affected (n = 57/66, 86.4%). Secondary syphilis was the most common stage of presentation (n = 48/66, 72.7%). Two groups were identified: HIV positive (HIVP) patients (n = 39/66, 59%) and HIV negative (HIVN) patients (n = 27/66, 41%). 12/39 (30.8%) patients were newly diagnosed with HIV at the time of ocular presentation. Panuveitis was the most common presenting feature in both groups (n = 66/105 eyes, 62.8%). Diffuse necrotizing retinitis was more common in HIV patients (HIVP - 15 Vs HIVN - 5 eyes). Ocular co-infections were more common in HIV patients, ocular tuberculosis, the commonest in both groups. Intravenous penicillin and titrated dose of systemic steroids were the mainstay of treatment. Improvement in mean logMAR was noted from 1.415 to 0.828 with p-value < 0.001. At final follow-up, 71.8% patients showed visual improvement. Complete resolution of ocular inflammation was noted in 95.5% patients.
UNASSIGNED: Ocular syphilis poses a diagnostic challenge considering the varied presentations and clinical course both in immunocompromised and immunocompetent groups. Clinical presentations are not always classical. High index of suspicion with supportive laboratory investigations and with characteristic OCT features helps diagnosis. All uveitis patients, especially with those suspected with infectious etiology, need to be tested for syphilis serology to prevent vision loss in this resurgent disease.

UNASSIGNED: The Philippines does not have a national congenital rubella syndrome (CRS) surveillance or registry. Regular monitoring of CRS cases in hospitals, including in a Philippine tertiary hospital, helped in the past to provide clinico-epidemiologic data on CRS. This study aimed to continue providing clinico-epidemiologic data on CRS cases seen in the Philippine tertiary hospital from 2009-2012 and 2019-2022 and compare the cases seen from said timelines.
UNASSIGNED: A cross-sectional study was used, employing chart review of patients newly diagnosed with CRS from 2009-2012 and 2019-2022 in the Department of Ophthalmology and Visual Sciences at the Philippine tertiary hospital.
UNASSIGNED: Forty-two patients newly diagnosed with CRS from 2009-2012 and 2019-2022 were included. Only 14 (33%) were serologically-confirmed cases (albeit qualitatively). Median age (first and third interquartile ranges) at consult was 1 year (0.4, 2.5). Twenty-four (57%) patients had maternal history of rashes and/or fever. Trimester of pregnancy when mother became symptomatic was not significantly correlated with chief complaint (p=0.20) and numbers of ophthalmic (p=0.68) and systemic manifestations (p=0.32). Cataract was the most common ophthalmic manifestation present in 40 (95%) patients. Twenty-six (62%) patients had other associated systemic findings of which hearing loss was the most common. Only 29 of 40 patients with cataract underwent lensectomy, with 23 patients having poor visual prognosis prior to surgery (5 with nystagmus alone, 10 with nystagmus and strabismus, and 8 with strabismus alone).
UNASSIGNED: Using ophthalmic manifestations as primary indicator, this study provided an update on the CRS cases in the country. Laboratory confirmation remains a challenge in diagnosing CRS as the tests are costly and not widely available. There was increase from 2009-2012 compared to 2019-2022 in number of patients who underwent surgical treatment for cataract but visual outcomes were suboptimal due to delay in consultation. Although there was a decrease in number of CRS cases seen in the Philippine tertiary hospital, this cannot be attributed to increased rubella-containing vaccine (RCV) coverage alone.
UNASSIGNED: Provision of data from individual hospital-based studies similar to this highlights the need for a national CRS surveillance system or registry. This can better gauge the burden of CRS and identify the gap in RCV coverage.

Purpose: To describe a case of pentosan polysulfate maculopathy progression with 13 years of follow-up imaging. Methods: A case was analyzed and a literature review performed. Results: A 65-year-old woman was referred to the retina service for a second opinion of a bilateral progressive pigmentary maculopathy. Her medical history was significant for interstitial cystitis that was actively treated with daily pentosan polysulfate since 2003. Multimodal imaging and fundus examination were consistent with pentosan polysulfate maculopathy. A review of records showed previous fundus imaging dating back 13 years that permitted longitudinal assessment of the disease course. Imaging findings were more prominent than the fundus examination findings. There was a 5-year period from the onset of parafoveal atrophy to foveal involvement. A pseudopodial pattern of disease expansion was seen on fundus autofluorescence. Conclusions: To our knowledge, this case represents the longest documented follow-up imaging of the progression of pentosan polysulfate maculopathy in the literature.

Neuronal ceroid lipofuscinosis type 7 (NCL7) is a rare form of childhood dementia; it is part of a group of diseases characterized by rapid progressive cognitive decline, blindness associated with retinitis pigmentosa, and seizures. We report the clinical and molecular characteristics of the first Mexican patient with NCL7, highlighting a particularly atypical disease course. The typical presentation form is expected to have reduced life expectancy and an average age of ambulation loss at 12 years. Our 27-year-old patient retains the ability to walk. The patient\'s unique presentation could, in part, be attributed to her genetic profile: a hypomorphic allele carrying a missense variant (c.1390G>A) and an almost null allele with a frameshift variant (c.1086del), contributing to the preservation of some protein function. Throughout her childhood and early adulthood, our patient experienced a variable response to antiseizure drugs, attributed to a lack of recognition of the disease and the specific efficacy of certain antiseizure medications. Our findings underscore the significance of considering this genetic condition and acknowledging its clinical heterogeneity.

UNASSIGNED: To present results of contemporary multimodal ophthalmic imaging in a case of maternally inherited diabetes and deafness (MIDD) and a literature review of MIDD.
UNASSIGNED: A case of a 47-year-old female with diabetes mellitus, severe insulin resistance, familial lipodystrohy, deafness and increasing problems with vision is reported. A full ophthalmic examination was done, including best corrected visual acuity (BCVA, LogMAR), funduscopy, and imaging studies: optical coherence tomography (OCT), OCT angiography (OCT-A), fundus autofloresence (FAF), visual fields (HVF) 10-2 , electrophysiology (EP) and genetic testing were performed. Literature available on the topic was reviewed.
UNASSIGNED: BCVA was 0.06 LogMAR in the right eye and 0.1 LogMAR in the left. Funduscopy revealed atrophy (AT) and pigmentary changes but no diabetic retinopathy. HVF confirmed corresponding defects. The imaging and diagnostic tests showed the following abnormalities: FAF: hypoautofluoresence in areas of AT and mottled appearance in the macular and peripapillary area; OCT: attenuation of outer retinal layers and retinal pigment epithelium (RPE) in the AT; OCT-A: thinning of the deep capillary plexus and choriocapillaris; EP: abnormalities on full field electroretinogram (ERG), 30 Hz flicker and single cone flash response; multifocal ERG: reduced responses; genetic testing: A-to-G transition mutation at position 3243 of the mitochondrial genome, typical for MIDD. After one year OCT ganglion cell analysis showed loss of thickness.
UNASSIGNED: Genetic testing should be considered in diabetic patients with pigmentary retinopathy. Imaging studies and diagnostic testing showed structural and functional retinal changes, confined to the macula and progressive in nature.

The purpose of this clinical report was to describe a case of Cohen syndrome with its classical ophthalmological manifestations and novel VPS13B genetic variants. A 39-year-old Caucasian male patient with severe rod-cone retinal dystrophy and no history of parental consanguinity was referred to our ophthalmology department. Ophthalmologic history included high bilateral myopia and a 3-year prior bilateral cataract surgery. Systemic history included facial dysmorphism, intellectual disability, transient neutropenia, microcephaly, truncal obesity, and joint hyperextensibility. The patient presented classic fundoscopic features of pigmentary retinopathy in both eyes (OU). Optical coherence tomography (OCT) revealed bilateral central and diffuse retinal pigment epithelium (RPE) and outer retinal atrophy without concomitant macular edema, while fluorescein angiography (FA) demonstrated diffuse RPE atrophy with prominent choroidal vessels. The full-field ERG (ffERG) showed no dark-adapted or light-adapted responses and the P50 wave was not identified in the pattern ERG (pERG). The genetic study revealed two novel heterozygous variants in the VPS13B gene: (1) c.5138T>C p.(Leu1713Pro) and (2) c.10179del p.(Asn3393Lysfs*37), thus confirming the diagnosis of Cohen syndrome. This case report introduces these two novel genetic variants to the literature, in a patient with classic phenotypic characteristics of Cohen syndrome, a rare genetic disease which has been increasingly reported since its first description in 1973.

UNASSIGNED: To describe a case of bilateral retinal pigmentary changes in the setting of immune checkpoint inhibitor therapy (ICIT).
UNASSIGNED: A 69-year-old man with a history of advanced cutaneous melanoma was started on combination ICIT with nivolumab and ipilimumab and stereotactic body radiation therapy. Soon after, he developed photopsias and nyctalopia with findings of discrete retinal pigmentary changes bilaterally. Initial visual acuities were 20/20 and 20/30 in the right and left eye, respectively. Multi-modal imaging revealed sub-retinal deposits with progressive changes in pigmentation and autofluorescence, associated with decreased peripheral fields on formal perimetry. A full-field electroretinogram revealed attenuated and delayed a- and b-waves. Positive serum retinal autoantibodies were identified. The patient developed left-sided optic nerve edema and center-involving cystoid macular edema which improved after treatment with sub-tenon\'s triamcinolone.
UNASSIGNED: The use of ICIT has greatly expanded in oncologic practice with subsequent increases in immune related adverse events that pose significant systemic and ophthalmologic morbidities. We propose that the new retinal pigmentary changes seen in this case are the sequelae of an autoimmune inflammatory response against pigmented cells. This adds to the rare side effects that may occur after ICIT.

UNASSIGNED: Ocular syphilis can present as a wide variety of clinical phenotypes, among them panuveitis with vasculitis. Primary retinal phlebitis with resulting paravenous atrophy and pigmentary retinal degeneration is a rare presentation.
UNASSIGNED: A 53-year-old man presented with a 1-year history of bilateral blurry vision. Physical examination demonstrated bilateral anterior chamber and vitreous cell with vitreous haze, hyperemic optic nerves, and atrophic-appearing retina. The left eye demonstrated a nasal area of perivenular vascular sheathing with adjacent retinal whitening. Ancillary testing demonstrated predominantly perivenular leakage involvement.
UNASSIGNED: Uveitic workup was positive for syphilis and HIV. The patient was treated with antiretroviral therapy and intravenous penicillin G. He developed progressive paravenous pigmentary changes and atrophy.
UNASSIGNED: Syphilis can present with a wide variety of phenotypic manifestations and should also be considered in patients presenting with acute retinal phlebitis or paravenous atrophy in long-standing cases.

UNASSIGNED: This work describes characteristics of pentosan polysulfate sodium (PPS)-associated maculopathy and its similarities with common maculopathies in a retina practice cohort.
UNASSIGNED: Thirty-two patients were identified through electronic medical record query who were exposed to PPS. One patient was excluded for lack of retinal imaging. Thirty-one patients (62 eyes) were included. A retrospective review was used to obtain patient characteristics, examination findings, and retinal imaging of the study patients. Classification into \"likely,\" \"unlikely,\" or \"possible\" to have PPS-associated maculopathy groups was based on the fundus photography and retinal imaging. Main outcome measures were best-corrected visual acuity, age, sex, diagnosis of reason for referral, allocation into designated maculopathy group, and presence of choroidal neovascularization.
UNASSIGNED: Of 31 patients (62 eyes), the median age was 70 years (range, 24-104 years) and the majority were women (87%). Mean best-corrected visual acuity was 0.3 ± 0.4 logMAR at presentation. The most common reason for referral was age-related macular degeneration (29%). Maculopathy grades were \"likely\" (29%, 9 total patients), \"possible\" (26%, 8 total patients), or \"unlikely\" (45%, 14 total patients). Choroidal neovascularization was noted in 9.7% of all eyes and 11% of eyes in the \"likely\" group. The \"possible\" and \"likely\" groups had older ages of presentation (P < .05) compared with the \"unlikely\" group.
UNASSIGNED: A high percentage (55%) of patients with a history of chronic PPS exposure showed features of \"likely\" or \"possible\" maculopathy. Similarities with common maculopathies such as age-related macular degeneration and the importance of screening and recognizing at-risk patients are highlighted.

UNASSIGNED: To describe a patient initially diagnosed with age-related macular degeneration (AMD) who was ultimately determined to have progressing pentosan polysulfate sodium (PPS)-associated maculopathy leading to secondary cystoid macular edema (CME) 10 years after cessation of PPS.
UNASSIGNED: An interventional case report is presented.
UNASSIGNED: A 57-year-old woman diagnosed with AMD presented with unilateral worsening vision and metamorphopsia from CME. A detailed history showed a 3-year course of PPS, which had been discontinued 10 years previously. This led to the diagnosis of PPS-associated maculopathy. After topical NSAID and corticosteroid treatment failed, intravitreal bevacizumab resolved the symptoms. CME developed in the fellow eye 5 months later and also responded to bevacizumab.
UNASSIGNED: This case emphasizes the importance of a thorough review of past medication and medical histories in patients with pigmentary retinopathy and supports the use of antivascular endothelial growth factor therapy as an option to treat CME secondary to PPS-associated maculopathy.