Aim of the present study is to evaluate the relationship between genetic and phenotypic data in a series of patients affected by grade I and II of foveal hypoplasia with stable fixation and good visual acuity using multimodal imaging techniques. All patients underwent complete clinical and instrumental assessment including structural Optical Coherence Tomography (OCT), OCT Angiography and Adaptive Optics (AO) imaging. Central macular thickness (CMT), inner nuclear layer (INL), vessel density in superficial capillary plexus were the main variables evaluated with OCT technology. Cone density, cone spacing, cone regularity, cone dispersion and angular density were the parameters evaluated with AO. Genetic evaluation and trio exome sequencing were performed in all affected individuals. Eight patients (3 males and 5 females) with a mean age of 12.62 years (range 8-18) were enrolled. The mean best corrected visual acuity (BCVA) was 0.18 ± 0.13 logMAR, mean CMT was 291.9 ± 16.6 µm and INL was 26.2 ± 4.6 µm. The absence of a foveal avascular zone (FAZ) was documented by examination of OCT-A in seven patients in the superficial capillary plexus. However, there was a partial FAZ in the deep plexus in patients P5 and P8. Of note, all the patients presented with major retinal vessels clearly crossing the foveal center. All individuals exhibited a grade I or II of foveal hypoplasia. In 5 patients molecular analyses showed an extremely mild form of albinism caused by compound heterozygosity of a TYR pathogenic variant and the hypomorphic p.[Ser192Tyr;Arg402Gln] haplotype. One patient had Waardenburg syndrome type 2A caused by a de novo variant in MITF. Two patients had inconclusive molecular analyses. All the patients displayed abnormalities on OCT-A. Photoreceptor count did not differ from normal subjects according to the current literature, but qualitative analysis of AO imaging showed distinctive features likely related to an abnormal pigment distribution in this subset of individuals. In patients with foveal hypoplasia, genetic and multimodal imaging data, including AO findings, can help understand the physiopathology of the foveal hypoplasia phenotype. This study confirms that cone density and visual function can both be preserved despite the absence of a pit.

An 84-year-old man presented with decreased right-eye visual acuity. Upon initial examination, the rightand left-eye visual acuities were 0.03 and 1.2, respectively; moreover, the right- and left-eye intraocular pressure was 12 mmHg and 13 mmHg, respectively. Examination revealed a shallow anterior chamber of the right eye, anterior chamber inflammation, vitreous opacity, and marked retinochoroidal detachment. Optical coherence tomography (OCT) revealed retinal detachment (RD) and choroidal folds; moreover, B-scan ultrasonography (B-scan) showed RD as well as thickened sclera with fluid in Tenon\'s space. Fluorescent fundus angiography revealed hyperfluorescence in the optic disc and vascular hyperpermeability in the right eye. The left eye lacked extra-ocular symptoms or abnormalities. The right ocular axis measured 23.4 mm with no apparent subretinal fluid migration due to positional changes. Accordingly, the patient was diagnosed with panuveitis associated with posterior scleritis and immediately started on 40 mg prednisolone, which improved his symptoms. However, at 3 post-treatment months, choroidal folds were observed and was restarted on 20 mg prednisolone. The choroidal folds subsequently disappeared, with a current visual acuity of 0.3 in the right eye and no recurrence. Our findings indicated the utility of accurate diagnosis of posterior scleritis by B-scan and prompt systemic steroid administration.

BACKGROUND: Peripapillary hyperreflective ovoid mass-like structures (PHOMS) are newly characterized lesions wedged around the optic discs, which used to be misdiagnosed. Better understanding and identifying PHOMS are important for monitoring the condition of optic nerve.
METHODS: A young female presented to the ophthalmic clinic with blurred vision of both eyes. Protrusions resembling \"C-shaped donut\" were found circling the optic discs bilaterally. These lesions were homogenous hyperreflective on OCT, while they were also hypoautofluorescent and hypoechogenic. Meanwhile, cystoid macular edema (CME) was also identified in both eyes. The patient was then diagnosed as PHOMS with CME. A short-term glucocorticoids therapy was prescribed systemically. The logMAR best-corrected visual acuity (BCVA) of both eyes reached 0.0 in 4 months with recovery of CME, while the PHOMS remained.
CONCLUSIONS: There is currently no report on PHOMS with CME. More attentions should be paid to PHOMS, for they are potential biomarkers for axoplasmic stasis involved in different diseases of the optic nerve.

BACKGROUND: To report a case of Multiple Evanescent White Dot Syndrome (MEWDS) one month after a COVID-19 infection in a female patient at an age unusual for the occurrence of this disease.
METHODS: A 69-year-old Caucasian female reported the presence of floaters, photopsia, and enlarging vision loss in her left eye following the COVID-19 infection. Clinical and multimodal imaging was consistent with the MEWDS diagnosis. Fluorescein angiography examination revealed characteristic hyperfluorescent spots around the fovea in a wreath-like pattern. An extensive lab workup to rule out other autoimmune and infectious etiologies was inconclusive. Visual acuity and white dots resolved after a course of corticosteroids, which was confirmed on follow-up dilated fundus exam and multimodal imaging.
CONCLUSIONS: MEWDS is a rare white dot syndrome that may occur following COVID-19 infection in addition to other reported ophthalmic disorders following this infection.

BACKGROUND: Macular retinoschisis (MRS) and myopic macular neovascularization (mMNV) are both potentially blinding complications of high myopia. In this case report, we highlight the progression of MRS after intravitreal anti-vascular endothelial growth factor (anti-VEGF) treatment for mMNV, as well as an extensive review of the literature on this topic.
METHODS: A 49-year-old woman presented with two weeks of recent onset blurring and metamorphopsia in her right eye. She had high myopia in both eyes (right eye - 20/60 with - 16D, left eye - 20/20 with - 13D). Slit-lamp ophthalmoscopy found a normal anterior segment in both eyes. On fundus examination, features of pathological myopia with posterior staphyloma and peripapillary atrophy were observed in both eyes. An active mMNV, as well as intraretinal fluid, minimal perifoveal inner and outer MRS, and focal posterior vitreous traction along the inferotemporal retinal arcade, were detected on optical coherence tomography (OCT) of the right eye. The patient received an intravitreal injection of Aflibercept (2 mg/0.05 ml).
RESULTS: OCT scans at two- and four-month follow-up visits revealed regressed mMNV with a taut epiretinal membrane, progressive worsening of outer MRS, and the development of multiple perifoveal retinal detachment inferior to the fovea. Pars plana vitrectomy surgery was performed for the progressive MRS with good anatomical (resolved MRS) and functional outcome (maintained visual acuity at 20/60) at the last one-month post-surgery visit.
CONCLUSIONS: Intravitreal anti-VEGF injections for mMNV can cause vitreoretinal interface changes, exacerbating MRS and causing visual deterioration. Vitrectomy for MRS could be one of several treatment options.

Sympathetic ophthalmia is a rare and potentially devastating bilateral diffuse granulomatous panuveitis. It is caused by surgical or non-surgical eye injuries and is an uncommon and serious complication of trauma. It is diagnosed clinically and supported by imaging examinations such as ocular ultrasonography and optical coherence tomography. Its treatment consists of immunosuppressive therapy with steroids and sometimes steroid-sparing drugs, such as cyclosporine, azathioprine, cyclophosphamide, and mycophenolate mofetil. Fast and effective management with systemic immunosuppressive agents allows for disease control and achievement of good visual acuity in the sympathizing eye. By contrast, enucleation should be considered only in situations where the injured eye has no light perception or in the presence of severe trauma. In addition to a bibliographic review of this topic, we report six cases involving different immunosuppressive and surgical treatment modalities.

This case report presents the diagnostic features of isolated primary intraocular lymphoma, which was initially misdiagnosed as neovascular age-related macular degeneration. A comprehensive examination using ultrasound, optical coherence tomography, and fundus autofluorescence revealed changes characteristic of vitreoretinal lymphoma. Molecular genetic analysis of the vitreous body showed the presence of a MYD88 gene mutation and B-cell clonality by immunoglobulin heavy chain (IGH) gene rearrangement tests, which confirmed the diagnosis.
Представлено клиническое наблюдение, касающееся особенностей диагностики изолированной первичной внутриглазной лимфомы, которая первично расценена как влажная форма возрастной макулярной дистрофии. Комплексное обследование с применением ультразвукового исследования, оптической когерентной томографии и аутофлуоресценции глазного дна позволило выявить изменения, характерные для витреоретинальной лимфомы. Молекулярно-генетическое исследование стекловидного тела показало наличие мутации гена MYD88 и B-клеточную клональность по генам тяжелой цепи IgH, что подтвердило диагноз.

This article presents a case of a 31-year-old male patient who presented to the outpatient department of the Krasnov Research Institute of Eye Diseases with complaints of diplopia and increased intraocular pressure (IOP) up to 30 mm Hg. The patient had been using minoxidil topically for androgenic alopecia for 8 years. On examination, mild swelling of the bulbar conjunctiva in the upper fornix was revealed; optical coherence tomography showed thinning of the ganglion cell layer, most likely due to moderate myopia. The patient responded well to discontinuation of minoxidil and topical therapy with prostaglandin analogues. After 4 months, an attempt was made to replace topical hypotensive therapy with carbonic anhydrase inhibitors, but the previous hypotensive regimen had to be resumed due to an increase in IOP. During 10 months of observation, no signs of progression were detected according to optical coherence tomography and static perimetry.
В статье представлен клинический случай пациента 31 года, который обратился в консультативно-поликлиническое отделение ФГБНУ «НИИ глазных болезней им. М.М. Краснова» с жалобами на диплопию, повышение уровня внутриглазного давления (ВГД) до 30 мм рт.ст. В течение 8 лет пациент использовал миноксидил местно по поводу андрогенной алопеции. При осмотре выявлена умеренная пастозность бульбарной конъюнктивы в верхнем своде; оптическая когерентная томография показала истончение слоя ганглиозных клеток, вероятнее всего, обусловленное миопией слабой степени. Пациент хорошо отреагировал на отмену миноксидила и местную терапию аналогами простагландинов. Спустя 4 мес предпринята попытка заменить местную гипотензивную терапию на ингибиторы карбоангидразы, однако из-за повышения уровня ВГД возобновлен прежний гипотензивный режим. В течение 10 мес наблюдения по данным оптической когерентной томографии и статической периметрии признаки прогрессирования не выявлены.

Primary stromal cysts of the iris are rare, often asymptomatic, and incidentally found entities. Treatment is usually indicated in cases of enlargement or complications. However, imaging tests are required to determine their cystic nature and make an accurate differential diagnosis with malignant tumors, as well as for long-term follow-up. Ultrasound biomicroscopy is the technique of choice, although in most centers anterior segment optical coherence tomography is a more accessible and available imaging modality. We present a case of primary stromal cyst of the iris with an atypical presentation to illustrate the diagnosis and initial follow-up using anterior segment optical coherence tomography and photographs, and the management of complications. Anterior segment optical coherence tomography may be useful in the initial study and follow-up of anterior non-pigmented lesions where the cyst can be fully seen.

BACKGROUND: To report a rare occurrence of pigment epitheliopathy associated with choroidal neovasculization as a first manifestation of systemic lupus erythematosus.
METHODS: A 54-year-old female, with no prior medical history, sought a second opinion due to sudden drop in vision in her right eye to 20/80. Slit lamp examination was normal. Fundus examination revealed the presence of a subretinal hemorrhage in the macular area. Fundus imaging including optical coherence tomography and fluorescein angiography showed multifocal retinal pigment epitheliopathy associated with choroidal neovascularization (CNV). The patient had received an intravitreal injection of Bevacizumab 2 weeks ago. It was decided to complete the loading dose regimen with two additional Bevacizumab injections, and the first injection was done 2 weeks after her presentation. Two weeks later, the patient reported a rash on her cheeks, painful joints, and purpura. Systemic workup revealed positive ANA, anti-cardiolipin antibodies, and decreased complement levels, with negative anti-histone antibodies. This led to the diagnosis of systemic lupus erythematosus (SLE) based on the \"Systemic Lupus International Collaborating Clinics\" criteria. The patient was treated with 50 mg of prednisolone which was then tapered. 1 month after the third injection, an showed a total resolution of the sub-retinal fluid with an improvement of vision to 20/20. No recurrence was observed during follow-up.
CONCLUSIONS: Based on the findings from the fundus exam and imaging, systemic symptoms and the blood work-up, we postulate that the pigment epitheliopathy associated with choroidal neovascularization was related to the vaso-occlusive disease at the level of the choroid that can be part of SLE vasculopathy. To our knowledge, this represents the first case in which pigment epitheliopathy and CNV were the primary manifestations of SLE.