Torpedo maculopathy: A case series - insights into basic pathology.

Torpedo maculopathy is a benign retinal disorder whose pathophysiological origins are currently poorly understood. A number of theories have been postulated, with stable developmental anomalies of the retinal pigment epithelium taking the forefront. Four clinical cases are outlined of patients with macular torpedo lesions, with differing clinical presentation. In all four cases, this reveals very thin retinal pigment epithelium and outer retina associated with the lesion. In a single case, the oldest patient of the group, there is the additional finding of subretinal and intraretinal fluid accumulation. The contrast between this case and the other cases suggests that while initially this benign pathology might start with structurally normal retina with no fluid accumulation, dysgenetic changes in the retinal pigment epithelium might lead to secondary accumulation of fluid over time. Whether indeed this disorder might be progressive in nature, or whether in fact it is a static, non-progressive developmental abnormality as formerly thought, requires further elucidation.

Rectal adenocarcinoma: rare metastasis to the optic nerve.

We present the first reported case of histologically proven colorectal adenocarcinoma with metastatic spread to the optic nerve. A 49-year-old man, with a known history of rectal adenocarcinoma, presented with progressive loss of vision in his left eye. On presentation, he had no perception to light in his left eye and Snellen acuity of 6/36 in the right eye. Fundus examination showed a left globally swollen optic nerve with a few flame-shaped haemorrhages. A gadolinium-enhanced MRI scan demonstrated abnormal thickening of the anterior and mid-section of the optic nerve with high signal on STIR and postgadolinium enhancement. Optic nerve biopsy confirmed the presence of epithelial adenocarcinoma compatible with metastasis of gut origin. The patient died within 4 months of presentation.

Prevalence and correlates of vitamin D deficiency in adults after traumatic brain injury.

OBJECTIVES: Traumatic brain injury (TBI) is a major cause of long-term disability with variable recovery. Preclinical studies suggest that vitamin D status influences the recovery after TBI. However, there is no published clinical data on links between vitamin D status and TBI outcomes. The aim was to determine the (i) prevalence of vitamin D deficiency/insufficiency, and associations of vitamin D status with (ii) demographic factors and TBI severity, and with (iii) cognitive function, symptoms and quality of life, in adults after TBI. DESIGN: Retrospective audit of patients seen between July 2009 and March 2015. Serum vitamin D (25-hydroxy-cholecalciferol) was categorized as deficient (<40 nmol/l), insufficient (40-70 nmol/l) or replete (>70 nmol/l). PATIENTS: A total of 353 adults seen in tertiary hospital clinic (75·4% lighter skinned, 74·8% male, age median 35·1 year, range 26·6-48·3 year), 0·3-56·5 months after TBI (74·5% moderate-severe). MEASUREMENTS: Serum vitamin D concentrations; Addenbrooke's Cognitive Examination (ACE-R), Beck Depression Inventory-II (BDI-II), SF-36 Quality of Life, Pittsburgh Sleep Quality Index. RESULTS: In total, 46·5% of patients after TBI had vitamin D deficiency and 80·2% insufficiency/deficiency. Patients with vitamin D deficiency had lower ACE-R scores than those of vitamin D replete (mean effect size ± SEM 4·5 ± 2·1, P = 0·034), and higher BDI-II scores than those of vitamin D insufficient (4·5 ± 1·6, P = 0·003), correcting for age, gender, time since TBI and TBI severity. There was no association between vitamin D status and markers of TBI severity, sleep or quality of life. CONCLUSION: Vitamin D deficiency is common in patients after TBI and associated with impaired cognitive function and more severe depressive symptoms.