Clara Rizzo, MD
Ophthalmic Unit, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy
Alexander J. Brucker, K. Bailey Freund, Anat Loewestein, Stanislao Rizzo and Sandrine Zweifel moderated the session, which took place on the first day of the meeting.
Professor Alexander J. Brucker from University of Pennsylvania first presented the case of a 75-year-old patient with multiple white dots found on fundus examination of her left eye. The patient complained of decreasing vision in the left eye for one month. She denied prior ocular history. Slit lamp examination showed rare vitreous cells. Fluorescein angiography showed multiple localizing choroidal lesions. The right eye was 20/30 with normal slit lamp and fundus exam, autofluorescence and fluorescein angiography. A thorough systemic workup was negative for infectious or inflammatory disease. She was next sent to Oncology to investigate the possibility of a masquerade syndrome. PET scan revealed pathological left axillary nodes compatible with lymphoma. Axillary node biopsy was performed revealing a non-caseating granuloma consistent with sarcoidosis. The patient was started on systemic steroids, but overall lesion count increased, and the right eye became symptomatic. The patient was followed over a period of 4 months during which the lesions became atrophic. The patient was lost to follow up for a year before presenting to clinic with neovascularization of the disc. Systemic steroids and Humira were started. Dr. Brucker emphasized the importance of a comprehensive differential diagnosis as in this case a negative work up led to further evaluation and subsequent tissue diagnosis of sarcoidosis.
Next, professor Claus Eckardt from Hospital Frankfurt Hoechst presented a case of 52-year-old highly myopic patient who reported floaters in both eyes. The patient had previously undergone clear lens exchange in both eyes with placement of multifocal intraocular lenses. Visual acuity was 20/20 OU, but the patient was impaired by the floaters, particularly in the left eye. Vitrectomy was performed on the left eye. Strong vitreomacular adhesion was noted at the time of surgery, requiring high vacuum and supplemental use of ILM forceps. A peripheral retinal break was noted during the procedure and treated with endolaser and air tamponade. Post operative day 1, the patient noted a central scotoma. OCT revealed disruption in the ellipsoid and interdigitation zone. The lesion in the outer retina regressed partially over the next 4 months but a new abnormality appeared in the inner retinal layer. This case demonstrated the potential risks of high vacuum when detaching adherent vitreous that may lead not only to a damage in the inner layers but also to a disruption in foveal outer retinal layers.
Doctor Carl Claes of St. Augustinus Hospital in Antwerp then discussed a case involving a five-year-old boy with bilateral sclerocornea. The patient had previously undergone bilateral Boston Keratoprosthesis and presented with a chronic retinal detachment in the left eye and vision loss in the right eye secondary to a prior retinal detachment. A vitrectomy in the left eye faced challenges due to persistent vitreous adhesion, causing giant retinal tears temporally and nasally. Despite the retina’s stiffness from chronic detachment, it was flattened, and silicone oil tamponade was used. This case highlights the risks of keratoprosthesis surgery including leakage and retinal detachment.
Professor Christine A. Curcio from the University of Alabama at Birmingham discussed electron microscopy’s role in analyzing Bruch’s membrane, with implications for future applications with OCT. She highlighted that soft drusen and basal linear deposit (BLinD) are precursors to advanced disease. Volume electron microscopy enables detailed visualization of Bruch’s membrane, revealing lipoprotein particle accumulation, a precursor to soft drusen. Ongoing research includes quantifying these particles and exploring their interactions with structural proteins in Bruch’s membrane.
Dr. Ali Erginay from Lariboisière Hospital in Paris reported on a 28-year-old man with an exudative inferior retinal detachment (RD) in the right eye. A childhood-onset total RD in the left eye had resulted in complete vision loss. Despite laser treatment, the right eye’s condition worsened over a year, with extension of the RD and appearance of circinate exudates. Anti-VEGF therapy was started monthly for 6 months then bimonthly for 2 years. OCT revealed macular edema and ellipsoid zone loss. Characteristic features of Coats were present but foveoschisis was noted, leading to a diagnosis of congenital X-linked bullous retinopathy (CXLBR). Bullous schisis may be congenital or may develop shortly after birth and commonly results in strabismus. Cases may be complicated by RD – either tractional or Coats-like exudative RD. CXLBR may be also associated with vitreous hemorrhage and persistent fetal vasculature.
Next, professor K. Bailey Freund from NYU Grossman School of Medicine presented a 34-year-old woman experiencing bilateral metamorphopsia. Her visual acuity was 20/20 in both eyes, she had a familial history of AMD, and a personal history of exercise intolerance. Fundus examination showed central pigmentary changes, visible on autofluorescence as reticular hyperautofluorescent areas, that remained stable over a year. She was diagnosed with McArdle’s Disease (aka glycogen storage disease type V, GSD5, GSD-V), suggesting that metabolic disorders should be considered when exercise intolerance and pattern dystrophy features coexist. This diagnosis may be confirmed through muscle biopsy or through genetic testing (PYGM mutation).
Professor Kazuaki Kadonosono from Yokohama City University Medical School presented a 71-year-old hypertensive man with reduced vision in the right eye (20/200) and moderate vision in the left eye (20/25). Ophthalmologic examination showed anterior chamber as well as vitreous inflammation and opacities in both eyes. Diagnostic vitrectomy revealed elevated IL-6 (58) and IL-10 (3660). Diagnosed with intraocular B-cell lymphoma was made. In the right eye, the patient’s condition worsened with methotrexate treatment (0.8 mg 4x/month), developing count fingers vision with severe corneal erosion and macular atrophy after 10 injections, that progressed to NLP vision after 24 injections. The left eye worsened to 20/200 vision after 10 injections then improved to 20/20 at 24 injections. This case illustrates methotrexate’s variable efficacy in treating intraocular lymphoma.
Professor Maria Cristina Savastano from Università Cattolica del Sacro Cuore in Rome described a 65-year-old patient with treatment-resistant cystoid macular edema in the right eye. Despite numerous anti-VEGF injections and a dexamethasone implant, the condition persisted. The macular edema involved both the outer and inner nuclear layers in the right eye, while the left eye was normal without abnormalities on OCT. No prior surgeries were reported, but systemic hypertension was noted. Hard exudates were noted in the posterior pole and an alteration along the arterial arcade was noted. Upon deeper investigation with OCT-A followed by fluorescein angiography, a microvascular abnormality in the deep plexus was detected, underscoring the need to consider microvascular issues in unexplained macular edema cases and pursue systemic work up and angiography accordingly.
Professor Sandrine Zweifel from University Hospital Zurich discussed a 30-year-old woman who reported a central scotoma in her right eye. Visual acuity was slightly decreased at 20/25. FAF showed increased autofluorescence in a linear pattern, and OCT identified an angular sign of Henle fiber layer hyperreflectivity (ASHH), a marker for laser-associated macular injury. The patient confirmed undergoing laser hair removal, correlating with the ocular findings. ASHH has been described as an important sign of potential laser associated macular injury.
Professor Marta S. Figueroa from University Hospital Ramón y Cajal in Madrid highlighted a case of a 51-year-old highly myopic woman with a lamellar macular hole (involving both inner and outer retinal layers) in the right eye. In 2015 the patient had undergone successful surgery with internal limiting membrane (ILM) peeling for an outer lamellar macular hole and foveoschisis, which subsequently closed. The right eye underwent vitrectomy, ILM peeling, fluid air exchange, injection of 3 drops of plasma rich in growth factors (PRGF) and 20% SF6 tamponade, resulting in closure of the hole at 1.5 months. On OCT the external limiting membrane (ELM) was noted to be hyperreflective. During follow up, progression of this hyperreflectivity towards the outer retina was noted until its disappearance with closure of ellipsoid zone (EZ) – interdigitation zone (IZ) linear defect. The origin of hyperreflective bands observed in the outer retina remains uncertain but may stem from light reflection on proliferating Müller cell processes. Reportedly, hyperreflectivity at the ELM diminishes over a span of approximately 9.5 to 11.5 months. However, in this instance where PRGF was utilized, the duration reduced to around 5 months. Moreover, the hyperreflectivity extended beyond the ELM to include the EZ and IZ. It is postulated that PRGF facilitates Müller cell activity, thereby hastening the repair of foveal structure. Consequently, the application of PRGF could be advantageous in surgeries addressing lamellar macular holes.
Professor Anat Loewenstein from Tel Aviv University detailed a case involving a young male patient who reported a scotoma in the right eye. The left eye had previously received three bevacizumab injections for choroidal neovascularization (CNV). Given the patient’s ocular history, CNV was initially presumed in the right eye, prompting a bevacizumab injection. Six weeks post-treatment, a small hemorrhage was observed on fundus examination, without any signs of lacquer crack or CNV with fluorescein and indocyanine green (ICG) angiography. An inflammatory condition was considered, leading to the prescription of oral steroids (60 mg daily). However, multiple hemorrhages appeared in both eyes ten days later, and after a month, steroid therapy was stopped. Subsequent observations revealed lacquer crack development within three months. This case suggests that fundus hemorrhages in the absence of CNV may foretell impending lacquer cracks, and steroid treatment could potentially hasten their formation.
Professor David Sarraf from Stein Eye Institute at UCLA discussed a 50-year-old male patient with bilateral bull’s eye maculopathy, presenting with symptoms for one year. The patient had not used hydroxychloroquine, pentosan sulfate, thioridazine, or chlorpromazine, but was on bupropion, Adderall, and lamotrigine for PTSD. His visual acuity was 20/20 in the right eye and 20/40 in the left eye. Humphrey visual field testing showed a bull’s eye scotoma more pronounced in the right eye than the left. Fundus examinations of both eyes displayed an annular hypopigmentation and pigment epithelium changes around the fovea. Autofluorescence imaging showed speckled hyper and hypoautofluorescence in the central macula of both eyes. OCT imaging remained stable over the year, showing annular loss of the ellipsoid zone perifoveally in both eyes. Electroretinography revealed significantly reduced photopic responses with normal scotopic responses. Genetic testing identified a PROM1 mutation, suggesting an autosomal dominant retinal macular dystrophy. The PROM1 gene, located on chromosome 4p15.32 and linked to disk membrane morphogenesis, is known for causing a bull’s eye maculopathy with slow progression. It has also been associated with conditions like cone-rod dystrophy and Stargardt disease.