Cerulean Cataract in a Person with Down s Syndrome

We report the case of an 18-year-old patient who consults for a loss of visual acuity in the right eye for 1 year. On clinical examination, visual acuity is 20/100. Eye tone is 12 mmhg. Examination of the anterior segment shows the existence of a cataract made up of whitish opacities corresponding to a congenital cerulean cataract (Figure 1). The treatment consisted of a cataract cure by phacoemulsification with good progress. Cerulean cataract is a rare congenital form of bluish tint, made up of whitish opacities in concentric layers with a radial arrangement at their center. Visual acuity is fairly good in childhood but may deteriorate later. In the literature, the incidence of cataracts in Down’s children ranges from 5% to 50%. In previous studies of congenital or infantile cataract, 3-5 % of cases were associated with Down’s syndrome [1].

Comparing the Results of Vitrectomy and Sclerectomy in a Patient with Nanophthalmic Uveal Effusion Syndrome

Nanophthalmic uveal effusion syndrome (UES) is an extremely rare idiopathic disease characterized by a short axial length of the eye, extremely thick sclera and choroid. These structural changes can lead to spontaneous serous detachment of the retina and peripheral choroid. There are many other causes of UES such as trauma, inflammation, cataract surgery, glaucoma, or retinal detachment. UES is classified into three types. All are characterized by a relapsing-remitting clinical course. The loss of visual acuity ranges from mild to very severe, depending on macular involvement. Changes of the retinal pigment epithelium develop secondary after long-standing choroidal effusion and retinal detachment. Subretinal exudates could be seen and mistakenly diagnosed as chorioretinitis. UES can be very difficult to treat. The most commonly used treatment is surgery involving the creation of surgical sclerostomies (scleral window surgery) or partial thickness sclerectomies to support transscleral drainage. In our case, we present a bilateral nanophthalmic UES, which was misdiagnosed as bilateral ocular Vogt−Koyanagi−Harada disease. We documented the course of the disease and the results of the different surgical approaches in both eyes. A pars plana vitrectomy was performed in the right eye and a sclerectomy with sclerostomies in the left eye. In the left eye, even long lasting loss of visual acuity due to a serous retinal detachment was partially reversed.

Benign Familial Fleck Retina

Familial fleck retina is a rare inherited retinal disease. Sabel Aish & Dajani (1980) first reported ocular findings in seven of 10 siblings in one Arab family. It is an autosomal-recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiological deficits . Affected individuals are asymptomatic with a large number of yellow−white flecks of variable size and shape in the midperipheral to far peripheral retina, but did not have any ocular complaints such as loss of visual acuity (VA), impaired visual fields and dark adaptation disturbances. Fluorescein angiograms documented an irregular and spotty hyperfluorescence throughout the retina (sparing the macula). This report discusses a case of 22 year old female of both eye Benign familial fleck retina.

Familial Oculo-Leptomeningeal Transthyretin Amyloidosis Caused by Leu55Arg Mutation

Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a multisystemic disease usually presenting in a mixed neurological and cardiological phenotype. We present a case of hATTR amyloidosis associated with Leu55Arg mutation causing a form of familial oculo-leptomeningeal amyloidosis. Two brothers and their mother presented with severe autonomic neuropathy, loss of visual acuity and lepto-meningeal involvement. One patient suffered subarachnoid hemorrhage as a possible complication of cerebral involvement. The patients suffered from treatment-refractory weight loss and recurring vitreous opacities. RNA interference-based treatment has led to stabilization of autonomic and peripheral neuropathy but has had no effect on ocular symptoms.

Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure

Blue cone monochromatism (BCM) is a rare X-linked congenital vision disorder that is characterized by a cone dysfunction. We present a case of a 3-year-old boy referred to our department with abnormal eye movements since birth, impaired vision, and difficulties in distinguishing colors. A tendency to stare at the sun was noted. Examination revealed severe loss of visual acuity, high myopia, and opsoclonus. A mutation screening of OPN1LW/OPN1MW gene cluster was performed showing a nucleotide substitution encoding a Cys203Arg (C203R) missense mutation. The diagnosis of BCM in this case was clear and the patient harbored the most frequent genetic alteration. Opsoclonus and continued voluntary light exposure are novel features that have not been previously reported in BCM.

Orbital infarction syndrome after mechanical thrombectomy in acute ischaemic stroke

Orbital infarction syndrome (OIS) encompasses the ischaemic infarction of all intraorbital and intraocular structures (optic nerve, extraocular muscles and orbital fat) which leads to a painful loss of visual acuity, ophthalmoparesis, chemosis, proptosis and ptosis. The rich anastomotic orbital vascularisation from internal carotid artery (ICA) and external carotid artery makes this disorder a rare cause of visual loss in stroke patients. We describe a case of a woman who suffered an acute occlusion of her right ICA and developed an OIS after mechanical thrombectomy.

Argon Laser Photocoagulation for Extrafoveal Neovascular Maculopathy

The Macular Photocoagulation Study (MPS) comprised three randomized clinical trials: the Senile Macular Degeneration Study (SMDS), the Ocular Histoplasmosis Study (OHS), and the Idiopathic Neovascularization Study (INVS). The goal was to determine whether, in patients with visual symptoms due to choroidal neovascularization outside the fovea (at least 200 microns from the center of the foveal avascular zone and a best corrected visual acuity of 20/100 or better caused by senile macular degeneration (now known as age-related macular degeneration), histoplasmosis, or idiopathic causes, argon blue-green laser photocoagulation prevents significant loss of visual acuity. Based on the study findings, the authors recommended that eyes with well-defined extrafoveal choroidal neovascular membranes should be treated with argon blue-green laser photocoagulation to prevent or delay significant loss of visual acuity.

Traumatic macular hole: Clinical aspects and controversies

The traumatic macular hole is a rare pathology posterior to eye injuries, resulting in loss of visual acuity. It generally affects young men. The pathogenesis of macular hole formation after blunt trauma is today controversial. They frequently appear immediately after the injury, nevertheless in some cases can occur weeks later. The vision usually ranges between 20/80 and 20/400. The exploration typically shows a full-thickness defect of the neurosensory retina at the fovea, elliptical, and with irregular edges. The management can include observation under certain conditions because there is a chance of spontaneous closure. Surgery with vitrectomy obtains the closure of the hole in between 92% and 96% of cases.