A Case of Angioid Streaks in Congenital Dyserythropoietic Anaemia Type II

The authors describe a case report of retinal angioid streaks (AS) in a patient with congenital dyserythropoietic anaemia (CDA) type II and compare the retinal findings to those of an affected first-degree relative without ocular manifestations of the disease. A 52-year-old man with a confirmed diagnosis of CDA type II has been dependent on treatment with regular transfusions and chelating agents. He presents with bilateral retinal AS. The subject’s brother, who also has CDA type II, underwent splenectomy in childhood, and has required no treatment since then. He has no ocular manifestations of the disease. To the authors’ knowledge, this is only the second time that the presence of retinal AS has been reported in a case of CDA type II. It has been reported more frequently with CDA types I and III. The milder course of disease in the subject’s brother likely accounts for the differing retinal findings. The authors explore the pathophysiology of AS in this disease, and the differential diagnosis of chelating agent toxicity. Diagnostic uncertainty around retinal findings can lead to withholding of essential systemic treatment and inappropriate ophthalmological follow-up. It is recommended that all patients with CDA undergo eye examinations.

Decompensated Superior Oblique Palsy Secondary to Bilateral Nutritional Optic Neuropathy Following Bariatric Surgery

Optic neuropathy can occur secondary to nutritional deficiencies in patients who have undergone bariatric surgery. We present a unique case of a 39-year-old man, claiming to be generally healthy, who presented with intermittent vertical diplopia and bilateral decreased vision in each eye. Visual acuity was 6/18 in the right eye and 6/12 in the left eye. Ishihara testing was defective for both eyes. Automated visual fields showed a severe generalized reduction in sensitivity in both eyes. The patient had a left head tilt and a right intermittent hypertropia of 30 prism diopters in primary position. CT of the orbits revealed a right superior oblique of small caliber. On further questioning, the patient admitted to a history of bariatric surgery 7 years prior to presentation with failure to take any nutritional supplements. Blood work demonstrated deficiencies in folate, thiamine, and copper. Within 6 months of initiating nutritional supplements, the vision in each eye was markedly improved and the diplopia resolved. There was an associated normalization of thiamine and copper, but folate levels remained low. We believe that the nutritional deficiency caused a bilateral optic neuropathy and the resulting vision loss precipitated a manifestation of a congenital superior oblique palsy that had previously just been a phoria. The case emphasizes the importance of considering occult sensory etiologies of acquired strabismus.

Treatment of Bilateral Endogenous Aspergillus Endophthalmitis with Multiple Intravitreal Voriconazole Injections with Good Visual Outcome

Endogenous endophthalmitis caused by <i>Aspergillus</i> species tends to be very aggressive, often leading to devastating visual outcomes. Historically, intravitreal amphotericin injections have played a central role in management, but with variable visual outcomes and a risk of toxicity. Limited reports suggest that use of intravitreal voriconazole is a safe and efficacious alternative, though these cases were treated with only few intravitreal injections. Here, we report a case of bilateral endogenous <i>Aspergillus</i> endophthalmitis treated with 8 intravitreal voriconazole injections in the right eye and 11 in the left eye with good best-corrected final visual outcome (20/50 right eye and 20/40 left eye).

Presumed Melanoma of Unknown Primary Origin Metastatic to the Choroid Mimics Primary Uveal Melanoma

We describe the case of a 69-year-old woman who presented with a decline in vision in the left eye and was found to have a choroidal lesion with clinical and echographic features concerning for primary uveal melanoma. Systemic imaging identified numerous metastases to the liver, kidneys, paratracheal lymph nodes, lung, and brain. The hepatic lesion was biopsied, and genetic analysis identified a Val600Glu (c.1799T&#x3e;A) <i>BRAF</i> mutation, consistent with a cutaneous primary malignancy, although no primary tumor was identified. This case highlights that metastasis to the choroid is a rare presentation of nonuveal melanoma that can mimic primary uveal melanoma. Genetic analysis of tumor tissue can identify the origin of the melanoma and guide treatment options. Systemic imaging should be performed prior to intervention for choroidal neoplasms.

Acute Lymphoblastic Leukemia Relapse Limited to the Anterior Chamber of the Eye and Treated with Novel CAR T-Cell Therapy

Acute lymphoblastic leukemia (ALL) is a malignant neoplasm of the blood stem cells, characterized by increased formation of immature lymphocytes. Ocular manifestations may vary with ocular, adnexal, and orbital involvement. In this case report, we describe the first case of extramedullary relapse of ALL limited to the anterior chamber of the eye treated with the novel chimeric antigen receptor T (CAR T)-cell therapy and provide a literature review of cases of ALL relapse in the anterior chamber. A 21-year-old male with a history of B-cell ALL presented with a unilateral blurry vision in his left eye. Ocular examination revealed the presence of cells +3 in the anterior chamber and a 1.5-mm hypopyon. Anterior chamber aspiration confirmed a B-ALL relapse. The patient was successfully treated with radiotherapy of his left eye and received CTL-019 transduced T cells (tisagenlecleucel; Novartis) with cytarabine as a bridging chemotherapy treatment. On the last examination, 18 months after the first presentation, the patient presented a complete ocular remission with no systemic or CNS involvement. ALL relapse may involve the anterior chamber of the eye, and an accurate diagnosis is crucial to enable a fast and appropriate treatment. Novel CAR T-cell immunotherapy, combined with ocular irradiation, may be considered in such cases.

Subthreshold Laser Treatment for Serous Retinal Detachment Associated with Tilted Disc Syndrome

Persistent serous retinal detachment (SRD) is a common complication of tilted disc syndrome (TDS). The purpose of this study is to evaluate the efficacy of subthreshold laser photocoagulation for SRD associated with TDS. This retrospective, single-center study included 5 eyes of 5 patients with TDS-associated SRD treated by subthreshold laser treatment. SRD was completely absorbed in 4 eyes within 4 months after initial treatment. However, it recurred in 2 eyes; one required additional laser treatment and one showed spontaneous resolution. Eventually, all 4 eyes showed complete SRD resorption. The mean visual acuities at enrollment and 1 and 3 months showed no significant differences. The mean central macular thickness showed a significant decrease at 3 months. Two eyes showed changes in fundus autofluorescence findings at the laser ablation site. However, there were no instances of laser scotoma and no laser-induced retinal scarring on color fundus photography performed at the end of treatment. In conclusion, subthreshold laser photocoagulation is an effective treatment for SRD associated with TDS. Thus, the clinical indications of subthreshold laser photocoagulation may be extended to SRD in patients with TDS.

To Amputate or Not to Amputate: Management of Iatrogenic LASIK Flap Dehiscence and Epithelial Ingrowth with Overlying Pseudopterygium

A 73-year-old male with a history of myopic laser-assisted in situ keratomileusis (LASIK) 20 years earlier presented with a late LASIK flap dehiscence, epithelial ingrowth, conjunctivalization, and the development of a pseudopterygium in the right eye. The findings were consistent with surgical trauma, likely occurring after corneal epithelial debridement to improve visualization during pars plana vitrectomy for retinal detachment repair 3 months earlier. The patient underwent epithelial ingrowth debridement, LASIK flap reapproximation and suturing, and a conjunctival limbal autograft from the contralateral eye. The surgery was completed successfully without the need for flap amputation. Postoperatively, the patient had an uneventful course with a well-healing conjunctival graft and no interface opacity or evidence of recurrent pseudopterygium of the right eye. The graft and corneal topography remained stable after subsequent cataract surgery.

Bilateral Diffuse Uveal Melanocytic Proliferation in a Woman with Metastatic Scalp Squamous Cell Carcinoma Treated with Cemiplimab

Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare paraneoplastic intraocular syndrome that causes progressive visual loss in patients driven by an IgG factor associated with an underlying malignancy. The IgG factor – cultured melanocyte elongation and proliferation – was found in the IgG fraction of the serum of BDUMP patients. It has been shown to be involved in melanocytic proliferation. In this case report, we describe the first case of BDUMP related to metastatic cutaneous squamous cell carcinoma (cSCC) of the scalp. A 61-year-old woman complained of decreased vision in both of her eyes, while being treated with cemiplimab (an anti-PD-1 therapy) for metastatic cSCC. Fundus examination showed hypopigmented lesions in a leopard pattern and pigmentary clumps in both eyes. Further imaging confirmed the diagnosis of BDUMP. The patient was successfully treated with plasmapheresis. During follow-up, cataract progressed in both eyes, and she underwent cataract surgery with visual acuity improvement to 20/20. BDUMP is a challenging diagnosis especially in patients treated with anti-PD-1 immunotherapy as it can be confused with drug-related effects. It is crucial to distinguish between the cases in order to allow the appropriate treatment which includes continuation of systemic anti-PD-1 for the underlying malignancy and plasmapheresis therapy for BDUMP.

Pre-Descemetic Placement of Intracorneal Ring Segments for Keratoconus after Mechanical Implantation

We report the case of a 23-year-old male who was referred to our clinic for a routine follow-up examination. The patient was treated for keratoconus 3 years ago in Colombia, where intracorneal ring segments were implanted mechanically in both eyes to improve his visual acuity. Surprisingly, we discovered a pre-descemetic placement of intracorneal ring segments, which could lead to potential complications, under circumstances. We illustrate this impressive finding with slit-lamp photography and high-resolution anterior segment OCT and advocate for the use of femtosecond laser as the method of choice for intracorneal ring segment insertion in order to provide maximal precision and safety.