A CASE OF ALSTRÖM SYNDROME WITH A NOVEL VARIANT IN ALMS1 GENE PRESENTING WITH CONE ROD DYSTROPHY AS FIRST FINDING.

PURPOSE: Alström Syndrome (AS) is a rare autosomal recessive monogenic ciliopathy which is caused by a mutation of the Alström syndrome 1 (ALMS1) gene. It is a multisystemic disorder characterized by insulin resistance, childhood obesity, cardiomyopathy, progressive hepatic and renal failure, sensorineural hearing loss and retinal degeneration. Herein, we aimed to report a novel variant in ALMS1 gene causing AS in a patient presenting with visual impairment. METHODS: Case report. RESULTS: A 10-year-old male patient presented with photophobia and visual impairment in both eyes. Anterior and posterior segment examinations were unremarkable bilaterally. Optical coherence tomography (OCT) showed attenuated ellipsoid zone. Electroretinography revealed diminished cone and rod responses consistent with cone rod dystrophy (CRD). Genetic testing demonstrated a novel homozygous variant in ALMS1 (NM_015120.4) gene. The patient also was found to have early-stage dilated cardiomyopathy through systemic evaluation after the diagnosis of AS. CONCLUSION: Cone-rod dystrophy in pediatric population is relatively rare condition that can be associated with syndromic ciliopathies. The authors presented a case of AS with a novel variant in ALMS1 gene based on ophthalmic findings. Ophthalmologists play an important role in the diagnosis of this syndrome and early detection of systemic manifestations.

Bilateral Iris Metastasis in a Patient with Small Cell Lung Carcinoma: A Case Report.

Small cell lung carcinoma (SCLC) is a neuroendocrine tumor with high probability of early disseminated disease and paraneoplastic syndromes. Choroid is the most common uveal tissue affected by metastatic disease followed by iris and ciliary body. Herein, we present a 46-year-old male with bilateral multiple iris metastasis. Once diagnosed, the patient already had diagnosis of SCLC with cranial and bone metastases.

Insect Bite Mimicking Malignant Eyelid Tumor.

Insects are a class of living creatures within the arthropods. Bite is a wound produced by the mouth parts of an insect. Although insect bite reactions are commonly seen in clinical practice, especially in dermatology clinics, injuries from insect bites are less commonly encountered in ophthalmology clinics. Herein, we report a 28-year-old male presenting with a rapidly growing mass on his right upper eyelid following a suspected insect bite.

Coloboma Accompanying Microphthalmos With Orbital Cyst in a Mother and Child.

Microphtalmos with orbital cyst is a rare congenital abnormality of the eye and orbit that is caused by incomplete closure of the embryonic fissure. The cysts project through in a coloboma of the affected eye. It may be sporadic or genetic. Herein, the authors present a 32-year-old mother with unilateral and her 4-month-old daughter with bilateral microphtalmos and accompanying orbital cyst.

Clinical Approach to Ocular Cicatricial Pemphigoid.

Objectives: To evaluate the demographic data, ocular and systemic findings, clinical management, and outcomes of patients with ocular cicatricial pemphigoid (OCP). Materials and Methods: The medical records of 11 patients diagnosed as having OCP in the ophthalmology department of Ege University between 2008 and 2021 were evaluated retrospectively. Results: The patients' mean follow-up time was 14±5.76 months. All eyes (100%) had conjunctival involvement and 18 (81.81%) had corneal involvement. According to the Tauber staging system, 7 (31.81%), 8 (36.36%), and 7 (31.81%) of the eyes were stage 2, 3, and 4, respectively. The diagnosis was confirmed in 6 (66.66%) of 9 patients who underwent biopsy. Amniotic membrane transplantation was performed in 7 eyes, entropion surgery in 2 eyes, and electrocauterization for trichiasis in 5 eyes. Systemic involvement was observed in 45.45% (5/11) of patients, most commonly oral mucosal involvement (18.18%). Review of medical records showed that alkylating agents, steroids, and dapsone were used in patients treated before 2020. Mycophenolate mofetil was preferred to be used in combination with corticosteroids. Although treatment responses before mycophenolate mofetil usage could not be evaluated well because of loss to follow-up, 4 (66.66%) of 6 patients who received steroid treatment combined with mycophenolate mofetil showed partial or complete clinical remission. No serious side effects and drug withdrawal were observed. Conclusion: OCP is a sight-threatening autoimmune disease that affects older adults. Although positive biopsy results are valuable for diagnosis, negative results do not exclude the diagnosis. The main treatment is systemic immunosuppressives. Disease activity can be suppressed, especially with early initiation of drug therapy. These patients require a multidisciplinary approach. Especially in the presence of isolated ocular findings, ophthalmologists should be able to make the decision to start immunosuppressive treatment, and systemic treatment should not be delayed.

Temporomandibular Joint Dislocation in a Patient with Keratoconus Under General Anesthesia: A Case Report.

Keratoconus is a common disease in which the central or paracentral cornea undergoes progressive thinning, resulting in a cone-shaped cornea. It has been associated with many systemic disorders such as Down syndrome, osteogenesis imperfecta, and joint hypermobility. Herein, temporomandibular joint dislocation under general anesthesia during supraglottic airway device placement before deep anterior lamellar keratoplasty procedure in a keratoconus patient is reported.

Impact of COVID-19-Related Lockdown on Glaucoma Patients

Objectives: To analyze emergency and outpatient admissions by glaucoma patients during complete lockdown due to coronavirus disease 2019 (COVID-19) to assess the effect of pandemic-related complete lockdown on glaucoma patients. Materials and Methods: This retrospective chart review included all glaucoma patients who were either examined and/or underwent emergency surgery between March 11, 2020 and May 31, 2020, a period of complete COVID-19-related lockdown in Turkey. The data were compared with data from patients seen during the same time period in 2019. Visual acuity and intraocular pressure data from patients examined after the lifting of the lockdown were also evaluated. Results: According to Turkish Ministry of Health guidelines, only emergency examinations and surgeries could be performed during the 82 days of the COVID-19 lockdown. During this period, a total of 11 eyes of 10 patients were operated and 123 patients were examined in the outpatient clinic. During the same period in 2019, 122 surgeries were performed, 39 of which were emergencies. In the first 4 weeks after the lockdown ended, 163 patients were examined at the outpatient clinic and marked visual loss was detected in 10 eyes of 9 (5.5%) patients who did not attend follow-up visits due to the pandemic. Conclusion: During the lockdown, emergency surgeries related to glaucoma decreased by 71.7% and marked visual loss was detected in 5.5% of the patients examined after the lockdown. These findings suggest that some patients were unable to present to clinics despite needing emergency care.

Iris Juvenile Xanthogranuloma Presenting with Hypopyon.

PURPOSE: To report a case an iris juvenile xanthogranuloma presenting with hypopyon. CASE REPORT: A 45-day-old infant was referred to our clinic for unilateral hypopyon. Slit-lamp examination revealed a 2 mm hypopyon in the left eye while visible areas of the iris were normal. Fundus examination was normal. Topical corticosteroids and antibiotics were initiated. The hypopyon regressed to 0.5 mm after 2 weeks of treatment. The now visible peripheral iris revealed an inferotemporal yellow-brown iris mass. Clinical findings were consistent with juvenile xanthogranuloma of the iris. The patient was referred to the pediatrics department which revealed no systemic involvement. Two months after total regression of hypopyon, the baby presented with a 3 mm spontaneous hyphema causing 50 mmHg intraocular pressure. The patient was followed with topical corticosteroids and antiglaucomatous drops until the hyphema was resolved. CONCLUSION: ocular involvement, which is the most common extracutaneous 15 manifestation of juvenile xanthogranuloma, should be considered in the differential diagnosis of hypopyon and/or hyphema in young children.