Alström's Syndrome, Leber's Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis.

A case of a patient with the Alström syndrome (AS) that was misdiagnosed as Leber's hereditary optic neuropathy or retinitis pigmentosa for 13 years is presented. AS is a rare genetic disorder caused by mutations in the ALMS1 gene. AS may lead to abnormal ciliary formation and function. AS affects metabolism, and symptomatology includes type 2 diabetes mellitus (T2DM), obesity, hypogonadism and gynecomastia in males, progressive bilateral sensorineural hearing loss, cardiomyopathy, nonalcoholic fatty liver disease (NAFLD), cirrhosis, and chronic progressive kidney disease. The onset of the above symptoms may vary significantly. The ophthalmic manifestation is early onset cone-rod dystrophy that starts as progressive vision loss, photophobia, and nystagmus in the first months of life. An accurate diagnosis may enable specialists to facilitate a significantly positive effect in the everyday life of a patient. Genetic counseling may also be recommended for these patients. Diagnosis was confirmed by DNA testing, thus highlighting its necessity in everyday practice.

A 30-Year-Old Man with a Recent History of COVID-19 Requiring Treatment with Corticosteroids Who Developed Bilateral Central Serous Chorioretinopathy During 7-Month Follow-Up.

BACKGROUND Central serous chorioretinopathy (CSCR) involves a localized serous macular detachment, secondary to retinal pigment epithelial and choroidal vascular changes, which can be an adverse effect of corticosteroid use. Most CSCR cases resolve spontaneously, and normal vision returns, while some chronic cases can result in blindness. This report is of a 30-year-old man with a recent history of Corona virus disease (COVID)-19 requiring corticosteroid treatment who developed bilateral CSCR with unilateral fibrin and a 7-month follow-up. CASE REPORT A 30-year-old male patient presented with malaise and high fever. The patient tested positive for COVID-19, caused by the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) virus and was admitted. During hospitalization, he received intravenous (IV) corticosteroids for 1 week (6 mg dexamethasone IV once daily). Following hospitalization, the patient received per os methylprednisolone 16 mg (16 mg once daily for 3 days, 8 mg once daily for 3 days, 4 mg once daily for 3 days, and 2 mg once daily for 3 days). One month later, the patient presented with bilateral visual acuity (VA) deterioration and acute CSCR. The diagnosis and follow-up were performed by optical coherence tomography (OCT) and fundus fluorescein angiography (FFA). The patient was followed-up for a period of 7 months, during which, although the VA improved and remained stable, the OCT findings were changing. CONCLUSIONS This report highlights the importance of timely ophthalmological examination in patients with sudden vision loss and identification of the association between corticosteroid use and CSCR, as well as the importance of a longer follow-up period.

Peripapillary Pachychoroid Syndrome (PPS): Diagnosing and Treating a Rare Entity.

Two cases with peripapillary pachychoroid syndrome (PPS) along with the challenges concerning correct diagnosis and treatment are presented. In the first case, the patient presented with painless unilateral gradual visual loss. Fundoscopy and optical coherence tomography (OCT) revealed cystoid macular edema (CME) in the left eye (LE), extending from the temporal optic disc margin towards the fovea, with no additional findings. Enhanced-depth imaging- (EDI-) OCT provided additional information and increased choroidal thickness nasally to the macula and pachyvessels in the outer choroidal layer, findings supportive of PPS. Photodynamic therapy (PDT) was applied at the leakage sites. Two months later, CME and subretinal fluid (SRF) had resolved, and VA had significantly improved. In the second case, a patient presented with reduced vision and metamorphopsia bilaterally over the previous 5 days. Fundoscopy revealed CME in both eyes. OCT confirmed the presence of CME in the papillomacular area in the right eye; similarly, CME was recorded in the macula of the LE with SRF located subfoveally. EDI-OCT showed increased choroidal thickness in both eyes. Treatment was administered, originally with dorzolamide eye drops along with eplerenone tablets, and then dexamethasone eye drops that eventually led to significant anatomic and functional improvement. It is important for ophthalmologists to be able to recognize the unique clinical entity of PPS, as its resemblance to disorders with similar features may lead to misdiagnoses and unnecessary, or even incorrect, interventions.

Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters.

PURPOSE: To present a case of two siblings with optic atrophy associated with Wolfram Syndrome. OBSERVATIONS: Two young adult siblings presented with serious bilateral loss of vision and dyschromatopsia established in early adolescence. They were referred with a presumed diagnosis of Leber's Hereditary Optic Neuropathy. At baseline, visual acuity was 20/400 in the right eye and 20/200 in the left eye in patient A and 20/200 in both eyes in patient B, color perception tested with pseudo-isochromatic plates was 0/17 in each eye, optic discs were pale, visual field testing revealed diffuse scotomas bilaterally while electrophysiology showed delayed prominent positive deflection (P100) values in both patients. Personal history revealed Type 1 diabetes mellitus since early childhood. Patients were lost to follow-up and presented 4 years later with significant VA decrease (<20/400) and suspected hearing loss. At that point, genetic testing revealed a pathogenic variation in the WFS1 gene thus confirming the diagnosis of Wolfram syndrome. Treatment with idebenone was proposed, to which only one of the siblings agreed. The other patient remained under observation, as no known treatment for optic atrophy in Wolfram syndrome exists to date. CONCLUSIONS AND IMPORTANCE: Wolfram syndrome is a rare neurodegenerative genetic disease associated with diabetes mellitus, optic atrophy and deafness. Careful and detailed medical and family history led to appropriate testing that confirmed the diagnosis of Wolfram syndrome. To this day, there is no definite treatment for this disease, but the experimental use of idebenone has been suggested to improve visual function. Genetic testing of family members and offspring of patients is strongly recommended.

Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus: Multimodal Imaging for Early Diagnosis.

Multifocal pattern dystrophy simulating fundus flavimaculatus (MPDSFF) is a clinical entity characterized by several clinicopathological, angiographic, tomographic, and electrophysiological findings. A 58-year-old caucasian female patient presented with bilateral floaters and metamorphopsia. Best-corrected visual acuity (VA) was 6/6 in both eyes and intraocular pressure was 14 and 15 mm Hg, respectively. Fundus examination, optical coherence tomography (OCT), autofluoresence (AF), fluorescein angiography (FA) and pattern Electroretinogram were employed for the diagnosis of this case. Clinical and imaging findings were consistent with MPDSFF. Noticeable progression was observed in OCT scans 6 months following the baseline visit, while no significant changes were observed over the following 12 months. Prognosis of VA in MPDSFF patients may remain relatively good even in the presence of considerable anatomic changes. Disease progression may be slow and significant reduction in VA may present only secondary to a choroidal neovascular membrane. Patient follow-up should include OCT scans, PERG, and AF in addition to VA and dilated fundus examination every 6-12 months. As relevant literature is limited and no effective treatment modality has been employed for this clinical entity, the identification of the cellular death pathway in pattern dystrophies may lead to an applicable management approach.

Paramacular Acute Middle Maculopathy Associated with Glyceryl Trinitrate.

An unusual case of nitroglycerin-induced Paracentral Acute Middle Maculopathy (PAMM) is presented. A 50-year-old patient with sudden vision loss and scotoma was followed up with swept-source optical coherence tomography (SS-OCT), optical coherence tomography-angiography (OCT-A), and fluorescein angiography (FA). An anal fissure treated with glyceryl trinitrate (GTN) 0.2% ointment with headache and dizziness after application was reported. Fundoscopy OS revealed mild retinal venous dilatation and tortuosity with scattered blot hemorrhages and subtle, parafoveal, whitish lesions in the outer retina. SS-OCT revealed diffuse, hyperreflective lesions in the inner plexiform (IPL), inner nuclear (INL), and outer plexiform layers (OPL). OCT-A revealed focal dropout in the deep capillary plexus. FA showed masking due to blot hemorrhages and early punctuate leakage in the inner retina. This entity was identified as nitroglycerin-induced PAMM. Over the following 8 months, after discontinuation of the ointment application, the patient was symptom-free with stable visual acuity. OCT revealed INL/OPL thinning and confirmed complete lesion resolution. This first report of retinal vascular abnormalities due to nitrite ointment provides an insight into an unknown side effect of nitroglycerin ointment use. A dose-dependent correlation between GTN application and retinal vascular abnormalities remains to be confirmed.

A fingerprint hidden inside the eye. A unique pattern of outer retina splitting as seen on en-face OCT and OCT-angiography.

A splitting of the outer plexiform retinal layer in a saw-like hyporeflective pattern in addition to partially formed concentric circles centred at the foveola were observed using en-face OCT and OCT-angiography in a 27-year-old female patient with rhegmatogenous retinal detachment and a 50-year-old female patient with Vogt-Koyanagi-Harada chorioretinopathy.

Epiretinal membrane-induced intraretinal neovascularization.

PURPOSE: To report a 71-year-old male patient diagnosed with epiretinal membrane-induced intraretinal neovascularization. OBSERVATIONS: The presence of an epiretinal membrane (ERM) was confirmed by Optical Coherence Tomography (OCT), fluorescein and indocyanine angiography. Optical coherence tomography angiography (OCT-A) revealed a neovascular membrane within the ERM. Intravitreal ranibizumab injections were administered three times at four-week intervals. Imaging revealed a stable membrane with no leakage. Five months after the third injection, OCT revealed intraretinal fluid. OCT-A showed a new branch of the neo-vascular membrane at the superficial capillary plexus. Following an additional ranibizumab injection, the membrane stabilized. CONCLUSIONS AND IMPORTANCE: It is conceivable that neovascularization developed due to, or in close conjunction with an epiretinal membranes already in place.

Peripapillary Choroidal Neovascular Membrane Secondary to Sarcoidosis-Related Panuveitis: Treatment with Aflibercept and Ranibizumab with a 50-month Follow-Up.

A case of peripapillary choroidal neovascular membrane (PCNM) secondary to sarcoidosis-related panuveitis successfully treated with anti-vascular endothelial growth factor (anti-VEGF) agents and systemic immunomodulatory therapy is reported. Diagnosis and follow-up were based on fundoscopic, optical coherence tomography as well as fluorescein angiography findings. A 45-year-old female patient presented with sudden onset bilateral blurring of vision. Fundoscopy revealed bilateral granulomatous panuveitis with solitary peripheral granuloma in the right eye and PCNM in the left eye. Diagnostic work-up including conjunctival biopsy confirmed the diagnosis of sarcoidosis. Topical and systemic corticosteroids controlled the inflammation. Within 4 weeks, PCNM showed rapid enlargement (best-corrected visual acuity [BCVA]: 6/60) with foveal involvement. Monthly intravitreal aflibercept injections and systemic methotrexate were administered. After 5 aflibercept injections, anatomical and functional improvement was noted (BCVA: 6/6). Due to aflibercept unavailability, further treatment included ranibizumab injections. During a 50-month follow-up period, every anti-VEGF injection was followed by total NV regression and 6/6 BCVA. Both aflibercept and ranibizumab appear to be effective in the treatment of PCNM secondary to sarcoidosis.

Comparison of Chemokine CXCL-1 and Interleukin-6 Concentrations in the Subretinal Fluid and Vitreous in Rhegmatogenous Retinal Detachment.

Purpose: Comparison of IL-6 and CXCL-1 concentrations and CXCL-1/IL-6 ratio correlations with clinical parameters (RRD extent, duration, and proliferative vitreoretinopathy - PVR-grade) between subretinal fluid (SRF) and vitreous during rhegmatogenous retinal detachment (RRD) complicated with PVR.Methods: A total of 71 eyes of 71 patients with primary RRD possibly complicated with PVR were included; 36 eyes treated with scleral buckling and 35 eyes with pars-plana vitrectomy. Enzyme-Linked Immuno-sorbent Assay was employed for CXCL-1/IL-6 measurement (ng/ml).Results: Correlation analysis between mean CXCL-1/IL-6 ratio and clinical parameters revealed non-significant results. CXCL-1/IL-6 ratio was significantly elevated in phakic eye vitreous. Optimum circumstances for elevated chemokine levels during RRD were considerable extent (2-3-quadrant) and duration (29-60-day) complicated with PVR C.Conclusions: SRF appears to be characterized by greater chemokine concentrations while vitreous retains several structural characteristics that may assist in investigating inflammation and improving understanding of underlying pathophysiological mechanisms during RRD complicated with PVR.

The Acute Effects of Electronic Cigarette Vaping and Tobacco Cigarette Smoking on Choroidal Thickness in Young, Healthy, Habitual, Dual Smokers.

The present study aims to evaluate and compare the acute effects of tobacco cigarettes (TC) smoking and electronic cigarette (EC) vaping on foveal and choroidal thickness (CT) in young, healthy, dual smokers. Participants underwent four trials: 5 min TC; 5 min EC; 30 min EC; and 60 min nothing (sham trial). Scans before and immediately after each trial were obtained using spectral domain optical coherence tomography with the enhanced depth imaging mode. Changes in central foveal thickness (CFT), subfoveal choroidal thickness (SFCT), and CT at fourother points, 500 µm and 1000 µm temporally and nasally to the fovea, were measured. Forty-seven participants (33 male, 14 female; mean age 24.85 ± 1.57 years) were included. They smoked 13.53 ± 5.27 TCs/day for 6 ± 2.3 years and vaped ECs for the past 2.4 ± 1.08 years. We did not observe any statistically significant change in SFCT, CFT, and CT of the other points after any of the fourtrials. The acute changes in CFT and CT after EC vaping or TC smoking did not differ significantly compared to the sham trial. Smoking and vaping does not seem to result in statistically significant acute alterations in foveal and CT in young, dual smokers.

Ophthalmology Training in Greece as Perceived by Resident Ophthalmologists in the Times of Crisis: A National, Questionnaire-based Survey.

PURPOSE: To assess the level of perceived satisfaction with the current level of ophthalmology training in Greece from the perspective of residents and to identify deficiencies in the training curriculum. METHODS: This is a prospective, cross-sectional questionnaire-based study. An online, semi-structured questionnaire was designed to evaluate ophthalmology residents' extent of satisfaction with the quality of their postgraduate medical training. The survey was divided in two parts: demographics and evaluation of training. Resident ophthalmologists in all teaching hospitals in Greece were contacted and encouraged to complete it. RESULTS: A response rate of 53.8% was achieved. Two out of three participants stated their disappointment with the quality of training they received and deemed the four-year residency training program as insufficient. Surgical training was also viewed as unsatisfactory by the majority of the respondents. An interest in subspecialty training, as well as a significant participation in research activities, was noted. CONCLUSIONS: Both training and overall satisfaction with working conditions must be improved to preserve the appeal of ophthalmology for young academics. A new, structured curriculum, reduction of unnecessary bureaucracy, and improved surgical training rank among the most essential priorities in order to improve postgraduate ophthalmology training.

An Unusual Case of Perineural Infiltration and Orbital Invasion of Squamous Cell Carcinoma Associated with Actinic Keratosis.

Actinic keratosis is considered a precancerous lesion, constituting a precursor to squamous cell carcinoma (SCC) formation. Perineural invasion has been observed in patients with cutaneous carcinoma due to local subcutaneous tissue destruction and primarily involves the trigeminal nerve due to rich innervation provided by the supraorbital nerve in addition to the facial nerve. An unusual case of perineural infiltration and orbital invasion of squamous cell carcinoma associated with actinic keratosis is presented. A 70-year-old Caucasian woman presented with complete left eye ophthalmoplegia, total left upper-eyelid ptosis, and facial pain with paresthesia. Computed tomography revealed a process of the soft tissues in the left cheek infiltrating the infraorbital canal, pterygopalatine fossa, inferior orbital fissure, and left cavernous sinus with periosteal adherence. Magnetic resonance imaging revealed pathological extension via the left infraorbital canal with a considerable area of necrosis. Treatment of facial actinic keratosis may not prevent malignant transformation and can delay diagnosis and treatment of SCC. A deep biopsy appears to be essential for a correct diagnosis. Perineural spread of cutaneous SCC may be characterized by insidious progression in the cranial trigeminal nerve, abnormal ocular motility, diplopia, or external ophthalmoplegia.

Bilateral identical intervals between phacoemulsification procedures performed 23 years before retinal detachment.

We aim to present a case of bilateral rhegmatogenous retinal detachment (RRD) after successful phacoemulsification procedures performed 23 years before RRD onset and surgical management. A 57-year-old female presented with blurred vision due to floaters in the left eye. The patient was followed up with dilated fundus examination. The patient underwent bilateral uneventful cataract extraction 23 years before the baseline visit with the use of phacoemulsification. Dilated fundus examination revealed RRD in the left eye that was managed with a 25G pars plana vitrectomy, cryopexy, and 16% C3F8 expandable gas. Thirty-three days following the procedure in the left eye, the patient presented with RRD in the right eye. Management included a 25G pars plana vitrectomy with cryopexy and 20% SF6 expandable gas. Phacoemulsification ultrasound energy appears to bring about changes in the peripheral vitreous and retina that may manifest several decades following uncomplicated cataract extraction.

Caseous calcification of the mitral valve annulus: a rare cause of bilateral cerebral and ocular embolisation.

A 65-year-old woman presented with sudden bilateral visual loss of recent onset. She was recently diagnosed with multiple acute stroke syndrome for which she was commenced on antiplatelet therapy. Funduscopic examination revealed bilateral inferotemporal retinal artery occlusions. The recent history of multiple cerebral infarcts combined with the current ocular findings prompted a transoesophageal echocardiogram which successfully revealed caseous calcification of the mitral valve annulus as the source of the numerous sequential emboli, a finding which the conventional transthoracic echocardiogram had failed to disclose as a result of suboptimal image quality. Transoesophageal echocardiography should always be considered as part of the diagnostic workup of retinal arterial occlusive disease, particularly in bilateral lesions, due to its higher yield in identifying posteriorly located cardiac valvular and aortic lesions.

A Focus on the Epidemiology of Uveitis.

PURPOSE: Uveitis is a common, sight-threatening inflammatory ocular disease and includes multiple heterogeneous clinical entities. The prevalence of various types of uveitis depends upon multiple factors, such as age, sex, race, geographic distribution, environmental influence, genetics, and social habits. Epidemiologic research of uveitis is necessary to understand the etiology and immunopathogenesis of this group of diseases. The present study attempts to concentrate on the most recent information on the epidemiology of uveitis and compare it with previous knowledge. METHODS: An extensive literature search was performed in the Medline database (PubMed) and included surveys completed until 2015. Articles that reported prevalence and incidence were studied. References cited in the articles were also studied. RESULTS: The incidence and prevalence of uveitis differs based on age, anatomic location of the inflammatory process (anterior, intermediate, posterior uveitis, panuveitis), gender, histopathology (granulomatous, non-granulomatous), type of inflammatory process (acute, chronic, recurrent), and etiology (infectious, non-infectious). Prevalence differs by geographic location. Idiopathic anterior uveitis is the most common form of uveitis in the community. Infectious causes are common (30-60%) in the developing countries. Herpes and toxoplasmosis are the leading infectious causes of uveitis. Non-infectious uveitic conditions are generally more common in the developed world. An increase in the prevalence of infectious etiologies, including tuberculosis and syphilis, has been seen in developed countries. Introduction of new treatment options has also changed patterns of disease. CONCLUSIONS: Introduction of new uveitis entities, changes in the incidence of already known disease and increased availability of diagnostic testing have all altered the epidemiology of uveitis in recent years. Knowledge of regional patterns of disease is essential. A more detailed classification of uveitis with the establishment of uniform diagnostic criteria and prospective population based studies would certainly benefit epidemiologic research and clinical practice.

Amblyopia due to intermediate uveitis as the presenting symptom of Crohn's disease in a 6-year-old boy.

A 6-year-old boy presented with unexplained unilateral low visual acuity. Best-corrected visual acuity was counting fingers in the right eye and 20/20 in the left eye. Fundus examination of the right eye revealed intermediate uveitis, with moderate vitritis, snowballs, and snowbanking. Infectious and noninfectious conditions known to be associated with intermediate uveitis were excluded. Vitreous inflammation gradually resolved with oral steroids, and amblyopia treatment with left eye patching was advised. Several months later the boy suffered acute monoarthritis and episodes of mucopurulent diarrhea; a terminal ileum biopsy was consistent with Crohn's disease. This case of Crohn's disease and uveitis is unusual in that ocular inflammation preceded intestinal involvement, with the atypical feature of chronic intermediate uveitis.

SUTURELESS CLEAR CORNEAL ULTRASONIC FRAGMENTATION FOR RETAINED LENS FRAGMENTS: A Pilot Study.

PURPOSE: To describe the safety and efficacy of removing posteriorly dislocated lens fragments with the use of intravitreal ultrasonic fragmentation through a limbal, clear cornea self-sealing incision. METHODS: Patients presenting with posteriorly luxated nuclei were enrolled in this prospective case series. Preoperative examination included evaluation of the corneal endothelium by means of specular microscopy. A 3-port 25+ pars plana vitrectomy was initially performed. Following vitrectomy, sclerotomies were sealed using scleral plugs and a limbal/clear corneal incision was performed for the insertion of the fragmatome probe. The incision was slightly larger (1 mm) than the diameter of the fragmatome probe (20 gauge = 0.81 mm) to avoid wound overheating. At the end of the procedure, an appropriate intraocular lens either sulcus-fixated or angle-supported was implanted. Primary outcome measures were mean postoperative best-corrected visual acuity, intraoperative or postoperative complications, and intraoperative challenging features. RESULTS: In all eyes, fragmentation was completed successfully with a mean total ultrasound time of 113.4 seconds. Nucleus density was ≥3 in all cases (mean ± SD = 3.8 ± 0.4). Intraoperative challenges included viewing difficulties because of corneal distortion, fragment turbulence, and leakage through the limbal incision potentially compromising fundus visualization. There was statistically nonsignificant reduction in endothelial cell density ranging between 1932 ± 187 cells per square millimeter preoperatively to 1789 ± 213 cells per square millimeter at the first month postoperatively (P = 0.79). CONCLUSION: Clear corneal, sutureless ultrasonic fragmentation seems to be a novel, safe, and efficient method for the removal of hard posteriorly dislocated lens fragments, sparing the need for a 20-gauge scleral port.

Decreased hyaluronan concentration during primary rhegmatogenous retinal detachment.

PURPOSE: To evaluate the concentration and molecular weight of hyaluronan (HA) polysaccharides as well as hyaluronidase activity in patients with rhegmatogenous retinal detachment (RRD). METHODS: Twenty vitreous samples from 20 patients with RRD and 19 samples from 19 patients with idiopathic epiretinal membrane, macular hole, or vitreomacular traction syndrome were collected during surgical management with pars plana vitrectomy. The molecular weight of various HA fragments was assessed using agarose gel electrophoresis. Enzyme-linked immunosorbent assay was employed for the measurement of HA (in µg/mL). Hyaluronidase activity was evaluated using substrate (HA) sodium dodecyl sulfate polyacrylamide gel electrophoresis. RESULTS: Agarose gel electrophoresis showed that the vitreous of the control group contained HA of high molecular mass, in contrast with the patient group. Mean HA concentration in the patient group was 50.96 µg/mL and differed significantly from that of the control group, which was 271.81 µg/mL (p<0.0005). Hyaluronidase activity was significantly higher in the vitreous of patients with RRD (p = 0.037). CONCLUSIONS: The vitreous of patients with RRD is characterized by decreased HA concentration compared to controls of the same age and sex and shows higher hyaluronidase catalytic activity. Hyaluronan degradation could be associated with specific vitreous alterations that potentially contribute to retinal break formation and consequently detachment.