Small (p. 9) 等就引起北卡罗林纳黄斑营养不良 (North Carolina macular dystrophy [NCMD]) 致病基因变异进行研究。研究者发现了5种罕见变异, 每种都可以引起人类黄斑发育停滞。其中4种变异高度提示PRDM13参与黄斑发育过程; 虽然第5种变异病理生理机制不明, 但它可能与IRX1发育调节异常相关。本课题中, 研究者对人类视网膜细胞进行全基因组测序及基因表达分析。样本包括来自12个NCMD家族的41名受试者和261名非亲属对照受试个体。研究者发现本文报道的每种变异仅能通过3项基于PCR的测序反应被检测——另外, 通过一项针对NCMD的简单基因检测, 可同时提高对该病变的认知并增加新诊断病例数量。

Small y otros (p. 9) se propusieron identificar las mutaciones que causan la distrofia macular de Carolina del Norte (NCMD). Identificaron 5 extrañas mutaciones, cada una de las cuales es capaz de detener el desarrollo de la mácula humana. Cuatro de dichas mutaciones implican la importante participación del gen PRDM13 en el desarrollo macular y, aunque sigue sin conocerse aún el mecanismo fisiopatológíco de la quinta mutación, es posible que se relacione con el desarrollo de disregulación del IRX1.

A 77-year-old man presented with painless, progressive, proptosis and diminution of vision in the right eye of 30 years duration. Examination of the right eye (OD) revealed (A) no light perception, proptosis with inferior displacement of the globe, a dilated and fixed pupil, and pallor of the optic disc. (B) Computed tomography of the orbit demonstrated an osteolytic lesion centered in the frontal process of zygomatic bone. On biopsy the lesion showed (C) epithelial cells in a cord-like arrangement with small, round, nuclei and abundant vacuolated cytoplasm.

A 6-year-old boy presented with light perception vision and an afferent pupillary defect in the right eye. Dilated fundus examination disclosed large, dilated, and tortuous vessels (Fig 1A). Optical coherence tomography showed intraretinal and subretinal fluid (Fig 1B, arrow) along the maculopapillary bundle. Magnetic resonance imaging revealed right optic canal/orbital apex enhancement (Fig 1C, arrow) and small serpiginous vessels with flow-voids along the posterior orbit (Fig 1D, arrow). Ophthalmologic and neuroradiologic findings were consistent with Wyburn-Mason syndrome – a congenital, sporadic, unilateral, asymptomatic disorder without racial or gender predilection characterized by retinal/intracranial arteriovenous malformations.

The FDA has issued a final guidance document for industry and FDA staff on minimally invasive glaucoma surgical (MIGS) devices.

Ocular Therapeutix announced promising topline results from a phase 2 clinical trial of sustained-released dexamethasone for inflammatory dry eye disease.