Effect of macular edema in the premature period on refraction in infants screened and treated for retinopathy of prematurity.

BACKGROUND: To determine the effect of macular edema on refraction in infants with retinopathy of prematurity (ROP) at the ages of one, two and three years using Optical Coherence Tomography (OCT). METHODS: Optical coherence tomography (OCT) was performed to detect and categorize edema in 280 eyes of 280 premature infants. The cross-sectional spectral domain OCT imaging of the macular region was performed between weeks 36 and 42 to assess macular development. Refraction measurement was performed during follow-up at the ages of one, two and three years. Macular thickness, choroidal thickness, macular edema severity, and the spherical, cylindrical and spherical equivalent (SE) values were measured. RESULTS: A positive correlation was found between macular thickness in the premature period and the SE value at age one and a negative correlation at age three. No correlation was found between gestational age and the SE value, but there was a positive correlation between birth weight and the SE value at ages one and two. Although no correlation was determined between edema and gestational age or between edema and birth weight, the prevalence of macular edema in infants with ROP was significantly higher than that of infants without this disease. CONCLUSIONS: Macular edema during the premature period can have an impact on refraction at the ages one, two and three years by effecting the emmetropization process.

A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation.

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, peripheral neuropathy and leukoencephalopathy. The diagnosis is often not made until 5-10 years after the onset of symptoms. MNGIE is caused by mutations in thymidine phosphorylase gene TYMP. Here, we present a 19-year-old boy with MNGIE who had a chronic intestinal pseudo-obstruction, and we describe his family history. Genetic analysis revealed a novel homozygous c.765+1G>C intronic mutation which is expected to disrupt splicing of TYMP in the patient. Family screening revealed that the brother was also affected and the mother was a carrier. MNGIE should be considered and genetic testing instigated if individuals with cachexia have neuromuscular complaints or symptoms of chronic intestinal pseudo-obstruction.

Vogt-Koyanagi-Harada disease following BCG vaccination and tuberculosis.

INTRODUCTION: To describe the characteristics, diagnosis, and treatment of the first documented case of Vogt-Koyanagi-Harada (VKH) disease following BCG vaccination (Patient 1) and the first documented case of both VKH disease and tuberculosis (Patient 2). Two patients were diagnosed with VKH disease and monitored using fundus photography, fundus autofluorescence, fluorescein angiography (FA), spectral-domain optical coherence tomography, and enhanced depth imaging optical coherence tomography (EDI-OCT). CASE DESCRIPTION: A 39-year-old patient (Patient 1) had bilateral granulomatous anterior uveitis and serous retinal detachment. FA showed multiple punctuate hyperfluorescent lesions and multilobular pools of dye. EDI-OCT revealed serous retinal detachment, subretinal septa, and cystoid spaces. A 40-year-old woman (Patient 2) presented with a 3-week history of decreased vision, headache and tinnitus. Fundus examination showed bilateral disc swelling with serous retinal detachment and retinal folds. She had been diagnosed with tuberculosis. EDI-OCT showed fluctuation of the internal limiting membrane (ILM), retinal folds, retinal pigment epithelial (RPE)-Bruch membrane undulation, choroidal folds, serous retinal detachment. Both of the patients received high dosage of steroid treatment during the diagnosis. A fast recovery in VKH symptoms was observed following the treatment. DISCUSSION AND EVALUATION: Immunological mechanisms and dysregulation of the immune system may play a significant role in the association between VKH disease and BCG. CONCLUSIONS: EDI-OCT imaging demonstrated structural changes in the photoreceptor layer, RPE-Bruch membrane, choroid, outer retina, ILM in acute VKH.

Serous macular detachment, yellow macular deposits, and prominent middle limiting membrane in multiple myeloma.

Bone marrow-derived multiple myeloma is a type of plasma cell tumor that may be associated with ocular complications. A 52-year-old male patient was admitted to our eye clinic with the complaint of sudden visual loss and a visual acuity of 20/50 in the right eye and 20/800 in the left eye. Fundus examination revealed common flame-shaped hemorrhages, venous dilatation and tortuosity, Roth spots, serous macular detachment, and yellow macular deposits in both eyes. Evaluation with fundus fluorescein angiography, fundus autofluorescence, and spectral-domain optical coherence tomography resulted in suspicion of hyperviscosity retinopathy and referral to the hematology clinic. After hematology consultation confirmed a diagnosis of multiple myeloma, chemotherapy and plasmapheresis were initiated. Four months after presentation, best-corrected visual acuity was 20/20 in both eyes and improvement in hyperviscosity retinopathy, serous macular detachment, and yellow macular deposits was observed.