CRB1 maculopathy presenting as fenestrated sheen macular dystrophy with 15-year follow-up

Introduction

We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy.

Case presentation

We present two patients, the proband and the affected sibling, with biallelic CRB1 mutations leading to a macular dystrophy. With 15 years of follow-up for the proband, we illustrate the natural history of CRB1 maculopathy based on clinical examination, multimodal imaging, and electrophysiology. In addition, we demonstrate the wide phenotypic spectrum of the condition with the affected sister harboring the same variants but with much milder phenotypic manifestations.

Conclusion

In addition to a previously described pathogenic variant, Ile167_Gly169del, one pathogenic missense variant in CRB1, Lys801Ter, not previously associated with macular dystrophy, is reported here. While CRB1 mutations have been more commonly described in retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), we demonstrate that mutations in CRB1 can cause a maculopathy with initial features similar to fenestrated sheen macular dystrophy (FSMD) that later evolves into severe macular atrophy.

     

Choroidal thickness profile and clinical outcomes in eyes with polypoidal choroidal vasculopathy

Graefe's Archive for Clinical and Experimental Ophthalmology - To investigate the relationship between choroidal thickness (CT) profile and clinical outcomes after anti-vascular endothelial...     

A case of Castleman's disease mimicking a hepatocellular carcinoma: a case report and review of literature

Castleman's disease is a rare disease characterized by lymph node hyperplasia. Although Castleman's disease can occur wherever lymphoid tissue is found, it rarely appears in the abdominal cavity, and is especially rare adjacent to the liver. Here, we report a rare case of Castleman's disease in the portal area that mimicked a hepatocellular carcinoma (HCC) in a chronic hepatitis B patient. A 40 year-old woman with chronic hepatitis B presented with right upper quadrant discomfort. Computed tomography and magnetic resonance imaging results showed a 2.2 cm-sized, exophytic hypervascular mass in the portal area. HCC was suspected. However, histologic examination revealed Castleman's disease. We suggest that Castleman's disease should be included as a rare differential diagnosis of a hypervascular mass in the portal area, even in patients with chronic hepatitis B.     

A case of primary colon amyloidosis presenting as hematochezia

Amyloidosis is characterized by a deposition of insoluble fibrils in various organs and tissues. Amyloid deposition, in the gastrointestinal track, provokes a dysfunction of the organ, due to an accumulation of fibrils, and causes a variety of clinical symptoms and endoscopic findings. Primary amyloidosis in the gastrointestinal tract is rarely reported in Korea. We experienced a case of recurrent intestinal bleeding, in a 59-year-old female patient with primary amyloidosis. A colonoscopy revealed the presence of multiple large circular ulcers. In the entire colon, diffuse nodular lesions with edema and bleeding were found. A colonoscopic biopsy established the diagnosis of amyloidosis, to the exclusion of other disease components. We concluded that the patient had localized amyloidosis. Though a definitive therapeutic strategy has not been established for localized gastrointestinal amyloidosis, the patient has been successfully treated with a high-dose of steroids and azathioprine.     

A case of phlebosclerotic colitis in a hemodialysis patient

Phlebosclerotic colitis is a rare disease of intestinal ischemia caused by calcified peripheral mesenteric veins and a thickened colonic wall, differentiating it from the typical ischemic colitis. A 68-year-old man who was undergoing hemodialysis presented with hematochezia and abdominal pain. Colonoscopic findings showed typical dark purple-colored edematous mucosa. Linear calcifications in the colon were noted on both a plain abdominal radiolography and abdominal computer tomography. These findings suggested that the patient suffered from phlebosclerotic colitis. Following bowel rest and fluid therapy, there was full recovery. We herein report a rare case of phlebosclerotic colitis in a hemodialysis patient and include a review of the relevant literature.     

Korean guidelines for colorectal cancer screening and polyp detection

Colorectal cancer is the second most common cancer in males and the fourth most common in females in Korea. Since the most of colorectal cancer occur through the prolonged transformation of adenomas into carcinomas, early detection and removal of colorectal adenomas are one of the most effective methods to prevent colorectal cancer. Considering the increasing incidence of colorectal cancer and polyps in Korea, it is very important to establish Korean guideline for colorectal cancer screening and polyp detection. Korean Multi-Society Take Force developed the guidelines with evidence-based methods. Parts of the statements drawn by systematic reviews and meta-analyses. Herein we discussed the epidemiology of colorectal cancers and adenomas in Korea, optimal screening methods for colorectal cancer, and detection for adenomas including fecal occult blood tests, radiologic tests, and endoscopic examinations.