Late ophthalmology findings in a X-linked juvenile retinoschisis patient / Achados oftalmológicos tardios em um paciente portador de retinosquise juvenil ligada ao cromossomo X

ABSTRACT X-linked juvenile retinoschisis (XLRS) is a vitreoretinal degeneration caused by mutations in the RS1 gene, generally characterized by bilateral maculopathy and peripheral retinoschisis leading to progressive visual loss during the first 2 decades of life and complications like retinal detachment and vitreous hemorrhage. Herein, we present late ophthalmology findings in a XLRS patient.

RESUMO A retinosquise juvenil ligada ao cromossomo X (XLRS) é uma degeneração vitreorretiniana causada por mutações no gene RS1, geralmente caracterizada por maculopatia bilateral e retinosquise periférica, levando à perda visual progressiva durante as primeiras 2 décadas de vida e complicações como descolamento de retina e hemorragia vítrea. Apresentamos aqui achados oftalmológicos tardios em um paciente com XLRS.

En face and OCT angiography findings in macular retinoschisis

Abstract The diagnosis of macular retinoschisis is often complex and demands complementary exams to be confirmed. This is the report of a case of a 27 years old man diagnosed with macular retinoschisis, in which En face OCT and OCT angiography were used to identify and demonstrate the typical patterns of the disease, as well as distinguish them from the findings of cystoid macular edema.

Retinosquise juvenil ligada ao X / X-linked juvenile retinoschisis

Relatar o caso de um paciente masculino de 28 anos que foi encaminhado ao Centro de Estudos e Pesquisas Oculistas Associados (RJ) para avaliação de retina e apresentou os achados típicos de retinosquise juvenil ligada ao cromossomo X: maculopatia cistóide com formação de cistos na fóvea e retinosquise periférica. Foi realizado o manejo conservador, com atenção para as complicações.

Report the case of a male 28 years-old patient, who was referred to Centro de Estudos e Pesquisas Oculistas Associados – RJ, to retina assessment and presented the tipical findings of the X-Linked Juvenile Retinoschisis: A cystoid maculopathy with formation of foveal cysts and schisis of the peripheral retina. It was carried out the conservative management, with attention to the complications.

Image features of spectral-domain optical coherence tomography of high myopia with retinoschisis / 中华眼底病杂志

Objective To observe the image features of high myopia with retinoschisis by spectraldomain optical coherence tomography (SD-OCT). Methods The clinical data of eight patients (eight eyes)of high myopia with retinoschisis were retrospective analyzed. All patients were diagnosed by SD-OCT (Topcon 3D OCT-1000), had no macular holes and underwent vitrectomy including internal limiting membrane (ILM) peeling and gas tamponade. All patients also underwent visual acuity, refraction,pre-mirror fundus examination and A/B-mode ultrasound examination. Visual acuity and SD-OCT were followed up at one, three and six months after surgery. Before surgery, pre-mirror fundus examination revealed shallow foveal detachment in 3/8 eyes, posterior scleral staphyloma in 7/8 eyes. SD-OCT showed concave arc stripes in 7/8 eyes, and outer retinoschisis in 8/8 eyes, middle or inner retinoschisis in 5/8 eyes and foveal detachment in 5/8 eyes. Results Six months after surgery, posterior retinoschisis disappeared in six eyes, foveal detachment still presented in one eye and parafoveal hole occurred in one eye. The corrected visual acuity improved from the 0. 15 to 0. 8 in one eye which had a restored continuous inner segment/outer segmen (IS/OS) line by SD-OCT. The corxected visual acuity improved from 0. 01 to 0. 1 in one eye, from 0. 05 to 0. 15 in one eye, not changed in five eyes. There was no continuous IS/OS line in those patients by SD-OCT. Conclusions SD-OCT shows a variety of morphological features of myopic retinoschisis which could be cured anatomically and functionally by vitrectomy combined ILM peeling. The continuity of IS/OS layer from SD-OCT could help to interpret the vision recovery after the operation.

Classification of macular retinoschisis in pathological myopic eyes by optical coherence tomography and its clinical applications / 中华眼底病杂志

Pathological myopic macular retinoschisis can be classified into 4 types based on optical coherence tomography (OCT) images: outer layer retinoschisis, outer + middle layer retinoschisis, outer + inner layer retinoschisis and muhilayer retinoschisis. Currently vitrectomy is the major option to treat this condition as it can remove the posterior vitreous cortex completely and peel the internal limiting membrane (ILM) around the posterior vessels arch. Vitrectomy benefits the visual function significantly for outer layer retinoschisis with foveal detachment, but has no or very little effects on muhilayer retinoschisis. The appropriate starting site for removal of posterior cortex and ILM should be the site without inner layer retinoschisis. The knowledge and understanding of the OCT classification of pathological myopic macular retinoschisis is important for us to chose correct operation methods and determine the prognosis after treatment.