Ophthalmic findings in Alström syndrome

Varicella-zoster virus-induced orbital apex syndrome with superior ophthalmic vein occlusion and malignant intraocular pressure rise

To describe ocular findings in infants with signs of congenital Zika virus syndrome (CZS) in Paraíba, Brazil, as well as to conduct a literature review and report correlations with published clinical cases. In the Paraíba sample, infants with microcephaly suggestive of CZS were classified as Z (confirmed), PZ (probable), or SZ (suspected) according to serological testing and/or clinical findings of CZS. The patients underwent a clinical eye examination, and the results were correlated with published clinical cases. Ocular findings were present in 24 (42.9%) of 56 patients, consisting of gross retinal pigmentation in 11 (45.8%), macular chorioretinal atrophy in 11 (45.8%), optic nerve hypoplasia in 1 (4.2%), optic nerve pallor in 14 (58.3%), and increased cup-to-disk ratio in 2 (8.3%). The study revealed retina and optic nerve findings consistent with previous reports of ophthalmic involvement in CZS. However, external ocular changes observed in other studies were not detected. Ocular findings similar and consistent with the literature on CZS were observed with considerable frequency and severity, regardless of the patients' serological confirmation or classification. Infants with signs of CZS should undergo ocular examination.

Background: Pigmentary retinal dystrophy (PRD) is a group of inherited disorders involving the progressive degeneration of rod and cone photoreceptors and the retinal pigment epithelium (RPE), which can progress to pigmentary retinopathy (PR). We present a case of PRD in a female pediatric patient with mutations in the PRPH2 and PEX1 genes. Case Presentation: A 4-year-old female patient presented to the pediatric ophthalmologist with concern for developmental delay and “feeling around for objects” despite full-time glasses wear. Comprehensive evaluation revealed visual acuities of 20/180 in the right eye and 20/270 in the left eye via Teller cards, hyperopia with astigmatism, extensive retinal pigmentation 360° in the mid-periphery, and decreased foveal reflexes that were concerning for macular edema bilaterally. Optical Coherence Tomography of the macula revealed thickened retinal segments and schisis/edema of the outer retinal segments. The patient was also diagnosed with bilateral sensorineural hearing loss. Subsequent genetic evaluation yielded pathogenic homozygous mutation for the PEX1 c.2528G>A, p. (Gly843Asp) gene and a heterozygous mutation for the PRPH2 c.806C>G, p. (Thr269Arg) gene. Treatment for severe macular edema has included topical dorzolamide and intravitreal dexamethasone injection with successful improvement in macular edema and vision. Discussion: The PEX1 gene mutation is associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum (PBD-ZSS) and resulting retinal dystrophies. Furthermore, the PRPH2 mutation may play a role in macular edema and PRD, as it is implicated in macular degeneration, choroid defects, and photoreceptor dysfunction. This case demonstrates the potential for multiple gene etiologies in a single patient with PRD and the significant resulting visual impairment. Ocular findings in historical cases of PBD-ZSS have consistently included loss of photoreceptors, RPE, and ganglion cells. Retinal pigment dispersion, optic disc pallor and hypoplasia, and narrowed retinal arterioles were also consistently observed. PBD-ZSS has less consistently been associated with cataracts, glaucoma, and corneal clouding. Treatment remains supportive, aiming to control macular edema and correct refractive errors.

Longitudinal Measures of Visual Function, Tumor Volume, and Prediction of Visual Outcomes after Treatment of Optic Pathway Gliomas

Objective To observe the clinical efficacy of vitrectomy with silicone oil or C3F8 tamponade for proliferative diabetic retinopathy （PDR）. Methods 77 eyes of 60 patients with PDR who underwent vitreetomy from June 2010 to Dec. 2011 in author＇ s hospital were divided into two groups： silicone oil filling group and C3F8 tamponade group. There were no statistically significant differences in patients, age, sex and course of the disease between two groups （P 〉 0.05） . The visual acuity, intraoeular pressure （IOP）, retina and optic nerve were observed after surgery. Results The differences in visual acuity between two groups before and after operation were statistically significant （x^2 = 9. 20, P 〈 0. 05 ; x^2 = 9. 01, P 〈 0.05 ）. The difference in IOP after surgery between two groups was statistically significant （ Z = - 3.50, P 〈 0.05）. Of 41eyes in silicone oil group, the optic disc was pale in 5 eyes （ 12.20% ）, the color of optic disc became light in 3 eyes （ 7.32% ） , local retinal vascular occlusion occurred in 10 eyes （24.39%） and no retinal hemorrhage or detachment was found. Of 36 eyes in C3F8 tamponade group the gas was absorbed in all eyes, the color of optic disc became light in 3 eyes （8.33%）, retinal hemorrhage was in 5 eyes （ 13.88% ） , retinal redetaehment occurred in 2 eyes （5.55%） and no pale optic disc or local retinal vascular occlusion was found. Conclusion Vitrectomy with silicone oil tamponade is effective on PDR with uncontrollable lOP in fewer patients which may cause damage to vision function. In C3F8 tamponade group, no retinal redetachment or hemorrhage occurs and the visual function is better than that in silicone oil tamponade group. The right vitreous filler should be chosen for the PDR patients according to the retinal condition. The silicone oil should be removed as soon as possible after retinal reattachment to avoid optic nerve and retinal damage. Key words: Retinopathy, diabetic, proliferative ; Vitrectomy ; Silicone oil; Perflnorinated propane

The incidence, clinical manifestations, and contributory factors in ethambutol-induced optic neuropathy (EON) have not been widely studied. A retrospective chart review of 857 patients who took ethambutol for treatment of tuberculosis identified 89 patients who complained of decreased vision after initiation of treatment and were therefore referred to the ophthalmology clinic of Seoul National University Hospital, Korea, between January 2003 and December 2005. Information was extracted in regard to systemic illnesses, duration and dose of ethambutol therapy, visual acuity, color vision, ophthalmoscopic examination, visual fields, and visual evoked potentials (VEPs). EON was diagnosed in 13 (1.5%) patients during a follow-up period of 12.54 +/- 9.97 months. The average dose of ethambutol was 17.85 +/- 2.21 mg/kg/day, and the duration of therapy was 9.38 +/- 10.12 months. Ophthalmic findings included decreased visual acuity (65.4%), abnormal visual fields (65.4%), abnormal color vision (61.5%), optic disc pallor (38.5%), or increased latency on VEP tests (65.4%). Slightly less than one third of patients showed improvement in visual function after discontinuing ethambutol. The latency for recovery was 5.38 +/- 1.71 months. No patient with optic disc pallor at the time of diagnosis of EON showed visual function improvement. Renal dysfunction and the daily dose of ethambutol, but not the duration of treatment, contributed to EON. Based on this study, the incidence of EON in Koreans is estimated to be <2%. However, visual function after discontinuation of ethambutol is reversible in only a minority of patients and does not occur if optic disc pallor is present. Renal dysfunction and daily dose of ethambutol, but not duration of ethambutol treatment, seem to be related to development of EON.

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

1385 HISTORY: A 19 year-old college football cornerback sustained facial trauma as an unrestrained passenger in a high speed MVA. There was no loss of consciousness and no ejection. The airbag deployed. Patient complained of throbbing head, decreased vision in left eye, and photophobia. Transported via ambulance to the ER. PHYSICAL EXAM: Visual acuity 20/20 OD (right eye), 20/800 OS (left eye). Intra ocular pressure 9 mm OD, 23 mm OS. Left eye- swollen lid, injected conjunctiva, 2 small corneal abrasions, pupil 4 mm fixed, and trace hyphema. EOMI bilaterally. Fundoscopic exam- normal bilaterally. Laceration over his left orbit was sutured. Remainder of exam normal. Head CT revealed no globe or optic nerve injury and no apparent fracture. Patient was admitted for IV steroids and observation, with the head of the bed elevated 45 degrees. 24 hrs later, his condition showed moderate improvement with decreased pain and improved vision. Hyphema resolved and intra ocular pressure normalized. He was discharged on steroid eye drops for traumatic iritis. In the training room, 12 hrs after discharge, he had poor visual acuity and a fixed dilated left pupil. Referral to a retinal specialist revealed a visual acuity 20/400 OS and a persistent afferent pupillary defect. He incorrectly identified all color plates with his left eye (dyschromatopsia). Neuroophthalmology evaluation demonstrated a central scotoma, but no optic disc edema or pallor. He was then readmitted. DIFFERENTIAL DIAGNOSIS: Traumatic optic neuropathy Orbital fracture/Impingement of optic nerve Retro-orbital hematoma Optic sheath hemorrhage Retinal detachment TEST AND RESULTS: Flourescein angiogram: No retinal detachment or macular abnormalities MRI brain Normal optic nerves No fracture or mass lesion FINAL/WORKING DIAGNOSIS: Traumatic optic neuropathy TREATMENT AND OUTCOMES: High dose IV methylprednisolone 30 mg/kg loading dose with 5.4 mg/kg/hr continuous infusion over 24 hrs then 250 mg IV q6 hrs for 48 hrs. Visual acuity 20/60 after 24 hrs. Day 2- dyschromatopsia resolved, scotoma resolving. Converted to oral steroid taper once visual acuity improvement plateaued. Week 2- visual acuity 20/50 OS, small central scotoma. Thought to have reached maximum improvement. Face shield required when playing football and protective goggles for other athletics.

Optic Nerve Hemangioblastoma

Background Costello syndrome (CS) is a multisystem developmental disorder caused by germline pathogenic variants in HRAS resulting in dysregulation of the Ras pathway. A systematic characterization of ophthalmic manifestations provides a unique opportunity to understand the role of Ras signal transduction in ocular development and guide optimal ophthalmic care in CS individuals. Methods Visual function, ocular features and genotype/phenotype correlations were evaluated in CS individuals harboring HRAS pathogenic variants, by cross-sectional and retrospective studies, and were recruited through the Costello Syndrome Family Network (CSFN) between 2007 and 2020. Results Fifty-six molecularly diagnosed CS individuals including 34 females and 22 males, ages ranging from 0.5 to 37 years were enrolled. The most common ophthalmic manifestations in the cross-sectional study were lack of stereopsis (96%), refractive errors (83%), strabismus (72%), nystagmus (69%), optic nerve hypoplasia or pallor (55%) and ptosis (13.7%) with higher prevalence than in the retrospective data (refractive errors (41%), strabismus (44%), nystagmus (26%), optic nerve hypoplasia or pallor (7%) and ptosis (11%)). Visual acuities were found to ranged from 20/25 to 20/800 and contrast sensitivity from 1.6% to 44%. HRAS pathogenic variants included p.G12S (84%), p.G13C (7%), p.G12A (5.4%), p.G12C (1.8%) and p.A146V (1.8%). Conclusion Majority of individuals with CS have refractive errors, strabismus, nystagmus, absent stereopsis, and optic nerve abnormalities suggesting that HRAS and the Ras pathway play a vital role in visual system development. Ptosis, refractive errors and strabismus are amenable to treatment and early ophthalmic evaluation is crucial to prevent long-term vision impairment and improve overall quality of life in CS.

To describe a patient with central retinal artery occlusion following an episode of mechanical strangulation. A retrospective case report. An 83-year-old man presented with acute vision loss in his right eye after a strangling episode. Multimodal clinical imaging was performed. Visual acuity in the affected right eye was no light perception. Examination revealed optic nerve edema and optic nerve pallor and also severe vascular attenuation and a cherry-red spot in the macula. Mechanical disruption of carotid plaque can lead to occlusion of the central retinal artery, which may portend a dismal visual prognosis.

We report a case of bilateral posterior ischaemic optic neuropathy, which followed vaccination with ChAdOx1 nCoV-19 for COVID-19 prophylaxis. A man in his early 60s was initially assessed for bilateral...

1. Luis H. Ospina, MD* 1. *Assistant Professor, Pediatric Ophthalmology and Neuro-ophthalmology, Ste-Justine Hospital, University de Montreal, Montreal, Quebec, Canada After completing this article, readers should be able to: 1. Recognize cortical visual impairment (CVI) as an important cause of pediatric visual loss. 2. Identify the most frequent causes of pediatric CVI and, more specifically, understand the role of hypoxia as a cause of central visual damage. 3. Describe the different patterns and implications for future vision of hypoxic central visual damage occurring in preterm compared with term babies. 4. Know the clinical signs suggestive of CVI in children. 5. Discuss the involvement of visual functions other than visual acuity (ie, cognitive visual aspects) in CVI and correlate them with the likely affected neuroanatomic substrates. 6. Explain the value of using a multidisciplinary approach in rehabilitating children who have CVI early in their development. Vision loss caused by central nervous system damage often is referred to as CVI but also may be referred to as cerebral visual impairment or neurologic visual impairment. These terms refer to the fact that the primary defect may not necessarily be limited to the striate (primary visual) cortex and may affect other areas subserving vision, such as the visual associative cortex, optic radiations, and visual attention pathways. Although it is not yet certain which of these three terms best describes the visual deficit, it is clear that use of the label cortical blindness must be abandoned. That term not only evokes negative connotations for the child and the family but is inaccurate because in almost every instance, some degree of residual vision remains, and visual improvement can occur. CVI has become the greatest cause of pediatric visual impairment in developed countries (1)(2)(3)(4)(5) and is becoming increasingly prevalent in developing nations. CVI is a problem of increasing frequency for two primary reasons. First, the progress in neonatal care has resulted in improved survival of …

Predictors of AMD Treatment Response

BACKGROUND: With optic nerve degeneration of various origins, retinal neurons are the most vulnerable, and their state under these conditions has been studied in sufficient detail. At the same time, the retinal pigment epithelium plays a very important role, realizing the synthesis of melanin and performing antioxidant, phagocytic, transport, protective, and homeostatic functions. Tyrosinase serves as a key enzyme in melanogenesis by cells of this epithelium. The development of methods for early diagnosis of optic nerve atrophy is extremely important due to the fact that functional visual impairments appear later than structural ones, at more advanced stages of the disease. The retinal pigment epithelium cannot be insensitive to the processes that occur during optic nerve degeneration. That is why its study in experimental degeneration of the optic nerve is necessary for a more complete understanding of the processes occurring in the visual analyzer under these conditions. AIM: To study changes in the level of tyrosinase expression in the retinal pigment epithelium at different development stages of experimental optic nerve degeneration based on morphological data. MATERIAL AND METHODS: The subjects of the study were 40 rat eyes after creating a model of optic nerve atrophy using methanol. The animals were divided into five groups: the first group — control; the second to fifth groups included animals whose eyes were enucleated 1, 3, 6 and 9 weeks after the creation of the aminophylline-methanol model of optic nerve atrophy, respectively. The retinal pigment epithelium was studied using fluorescent antibodies to tyrosinase Tyrosinase Mouse Monoclonal. Immunofluorescence staining was performed on fixed transverse sections of the eyeball. Statistical analysis and visualization of the obtained data were carried out using the environment for statistical computing R 4.2.2. RESULTS: A comparative analysis of the results obtained revealed that the level of tyrosinase expression in the fifth group was on average 4.21 times [95% confidence interval (CI) 2.49–7.13, p=0.00076], 9.31 times (95% CI 5.47–15.85, p=0.00033), 2.63 times (95% CI 1.51–4.58, p=0.0009) and 3.44 times (95% CI 1.96–6.03, p=0.00055) higher compared to the first, second, third and fourth groups, respectively. The level of tyrosinase in experimental samples in the first, third and fourth groups was statistically higher compared to the level of tyrosinase in the second group by an average of 2.21 times (95% CI 1.33–3.66, p=0.0003), 3.53 times (95% CI 2.08–6.02, p=0.00069) and 2.71 times (95% CI 1.58–4.65, p=0.00022), respectively. CONCLUSION: As degenerative processes develop in the optic nerve fibers under these conditions, the integrity of the retinal pigment epithelium is disrupted, which is characterized by an increase in antibodies to tyrosinase in the retinal pigment epithelium of experimental animals.