CASE REPORTS IN OPHTHALMOLOGICAL MEDICINE

We report the good outcome of combined intravitreal aflibercept injection and photodynamic treatment in a case with fundus flavimaculatus (FFM) and unilateral subretinal neovascular membrane (SRNM). A 57-year-oldmanwithFFMand unilateral SRNM who was treated with two consecutive ranibizumab injections with no improvement at another institution was referred to us. He was treated successfully with three aflibercept injections three months apart and a single photodynamic treatment performed a week after the initial aflibercept injection. Six weeks after the last aflibercept injection visual acuity was improved and submacular exudation exhibited dramatic resolution with a moderate degree of residual scarring. SRNM formation is rarely observed in eyes with FFM and a satisfactory outcome can be achieved with a proper treatment

Corneal involvement in Papillon-Lefevre syndrome

We describe a 7-year-old boy with classic dental and dermatologic findings of Papillon-Lefevre syndrome. In addition to these manifestations, he had bilateral, almost symmetric, hypertrophic-looking corneal leukoma. This case demonstrates that patients with Papillon-Lefevre syndrome should undergo ophthalmologic examination in addition to frequent dental examination

Unilateral coexistent optic pit and choroidal coloboma

A 48-year-old diabetic woman was referred to us for retinopathy screening. Visual acuity was 20/20 with a refraction of -8.00 in each eye. Fundoscopy of the left eye revealed an inferotemporal optic pit and inferior typical retinochoroidal coloboma independent of the disc. The right optic disc was normal. There was a small choroidal coloboma just inferior to optic nerve head. Systemic and neurologic examinations were normal. Our case is a rare example of optic pit and independent coexistent choroidal coloboma. This observation supports the theory that optic disc pits may be the result of a faulty closure of the embryonic fissure

Retinal crystalline deposits in a patient who received chemotherapy and radiotherapy for nasopharyngeal carcinoma and subsequent anti-VEGF treatment for the bilateral radiation maculopathy

We report the occurrence of intraretinal crystalline deposits in a patient who received several anti-VEGF injections and one session of focal laser treatment for the treatment of radiation retinopathy during the treatment process. She had received three cycles of epirubicin and cisplatin together with radiation therapy seven years prior to detection of the maculopathy. The multimodal imaging features and the possible cause of the retinal crystalline deposits are discussed

Unilateral macular neovascularization formation during the follow-up of a 15-year-old boy with Bietti crystalline dystrophy and the successful treatment outcome with a single intravitreal ranibizumab injection

Objective: To report the successful outcome with a single intravitreal ranibizumab injection in a 15-year-old boy with Bietti crystalline dystrophy (BCD) who developed a unilateral macular neovascularization (MNV)Methods: A retrospective case reportResults: A 15-year-old Caucasian boy with Bietti crystalline dystrophy was diagnosed to have a unilateral MNV a year after the initial examination with the help of multimodal imaging and he was treated with a single intravitreal ranibizumab injection. Five months later, visual acuity improved and anatomically a dry-looking macula was noted.Conclusion: MNV is among the rare macular complications of BCD. The present case is the third reported pediatric case with MNV in association with BCD and the first pediatric BCD patient who received a vascular endothelial growth factor inhibitor (anti-VEGF) agent

Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives

Ali Osman Saatci,1 Ferdane Ataş,2 Gökhan Ozan Çetin,3 Mustafa Kayabaşı1 1Department of Ophthalmology, Dokuz Eylul University, Izmir, Turkey; 2Department of Ophthalmology, Çerkezköy State Hospital, Tekirdağ, Turkey; 3Department of Medical Genetics, Pamukkale University, Denizli, TurkeyCorrespondence: Ali Osman Saatci, Department of Ophthalmology, Dokuz Eylul University, Mustafa Kemal Sahil Bulvari, No: 73 A Blok, Daire 9, Narlidere, Izmir, Turkey, Tel +90 5327437071, Email [email protected]: Bietti crystalline dystrophy (BCD) is a rare, genetically determined chorioretinal dystrophy presenting with intraretinal crystalline deposits and varying degrees of progressive chorioretinal atrophy commencing at the posterior pole. In some cases, there can be concomitant corneal crystals noted first in the superior or inferior limbus. CYP4V2 gene, a member of the cytochrome P450 family is responsible for the disease and more than 100 mutations have been defined thus far. However, a genotype–phenotype correlation has not been established yet. Visual impairment commonly occurs between the second and third decades of life. By the fifth or sixth decade of life, vision loss can become so severe that the patient may potentially become legally blind. Multitudes of multimodal imaging modalities can be utilized to demonstrate the clinical features, course, and complications of the disease. This present review aims to reiterate the clinical features of BCD, update the clinical perspectives with the help of multimodal imaging techniques, and overview its genetic background with future therapeutic approaches.Keywords: Bietti crystalline dystrophy, chorioretinal dystrophy, corneal crystals, inherited disorder, vision los