Ichthyosis follicularis, atrichia, and photophobia (IFAP) are typical features of a rare neuroichthyosis termed IFAP syndrome. We demonstrate the ultrastructural findings of the eyes from a 33-year-old patient with IFAP syndrome. Clinically, eyebrows and eyelashes were absent from birth, and photophobia was noted at the age of 1 year. The globes measured 28 and 29 mm, respectively, and both eye...

BACKGROUND Antibodies to a muscle-specific receptor tyrosine kinase (MuSK) have been found in approximately 40% of patients with generalized myasthenia gravis who are seronegative for the antiacetylcholine receptor antibody. Many of the patients with anti-MuSK antibodies have prominent oculobulbar symptoms or weakness of the neck and respiratory muscles, but patients with ocular myasthenia have...

This Chinese patient was 24 years old, with no family history of neurofibromatosis. He felt feeble, with a history of numbness for 6 weeks in both legs. Gradually, he lost the ability to walk by himself. Urinary urgency and incontinence often occurred. An MRI scan of his cervical, thoracic, and lumbar spinal cord revealed several intraspinal tumors, which suggested neurofibromatosis [1,2] (Figu...

This study documents for the first time light and electron microscopical changes in the retinal pigment epithelium (RPE) following treatment with high dose desferrioxamine for systemic iron overload. The changes include loss of microvilli from the apical surface, patchy depigmentation, vacuolation of the cytoplasm, swelling and calcification of mitochondria, and disorganisation of the plasma me...

AIM This study was set up to determine whether or not retinal changes occur in sickle cell disease in Saudi Arabian subjects with either the Benin, which exists in the south western part of the kingdom, or Asian haplotypes in the east, and to compare the findings with those in sickle cell disease in Jamaica. METHODS Retinal examination and fluorescein angiography were performed in 61 patients...

The aim of this paper was to evaluate the ocular findings in patients with chronic renal failure (CRF) undergoing haemodialysis (HD). In 64 patients undergoing haemodialysis (30 female and 34 male), aged 24-83 years (mean 58 years) on haemodialysis 1-213 months (mean 47 months) complete ocular examination were performed: visual acuity (VA), intraocular pressure (IOP), biomicroscopic examination...

OBJECTIVES/HYPOTHESIS Maxillofacial trauma frequently involves the bony orbit that surrounds the ocular globe. Concomitant globe injury is a concern whenever orbit trauma occurs and in severe cases can occasionally result in vision loss. The mechanism of injury, physical exam findings, and radiographic imaging can provide useful information concerning the severity of the injury and concerns for...

This case report describes the optical coherence tomography (OCT) results of Berlin's edema in a male subject following blunt ocular trauma from a soccer ball. A 27-year-old male presented with blurred vision in his left eye following blunt trauma. On admission, he underwent a complete eye examination and an OCT of the macula. Fundoscopy revealed commotio retinae, observed as an abnormal cream-...

THE literature apparently contains only four pathological examinations of the eye in hereditary ochronosis, and all of very recent date. The first two were carried out on biopsy material (Seitz, 1954; Rodenhiiuser, 1957) and the other two on the whole eye (Rones, 1960; Allen, O'Malley, and Straatsma, 1961). An ochronotic eye enucleated because of a mistaken diagnosis of malignant melanoma was e...

A case is reported of a patient with known haemoglobin H disease who was found to have angioid streaks and retinal detachment. Angioid streaks have not previously been reported in cases of alpha-thalassaemia, and the question whether this is a chance association or otherwise is discussed.