The authors describe the use of high-definition optical coherence tomography (HD-OCT) in a case of congenital hypertrophy of the retinal pigment epithelium. A 40-year-old woman presented with a large flat pigmented lesion in the inferior retinal quadrant of the left eye, which was compatible with congenital hypertrophy of the retinal pigment epithelium. The lesion was studied with HD-OCT (5 lin...

Inherited retinal degenerations, including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), affect 1 in 4000 individuals in the general population. A majority of the genes which are mutated in these conditions are expressed in either photoreceptors or the retinal pigment epithelium (RPE). There is considerable variation in the clinical severity of these conditions; the most sever...

PURPOSE To determine whether pathogenic mutations exist in the ELOVL4 gene in patients with inherited retinal degenerations other than Stargardt-like macular dystrophy or other hereditary macular degenerations. METHODS All six exons comprising the open reading frame of the ELOVL4 gene were evaluated by single-strand conformation analysis, direct nucleotide sequencing, or both methods. RESUL...

Those born with congenital cataracts tend to develop retinal detachments, irrespective of whether or not cataract surgery is undertaken (Malbran and Dodds, i964), although the patient may reach middle age before the retina separates (Shapland, I962). The prospects of curing such detachments are generally regarded as poor (McDonald, I957), and since the literature is devoid of any series giving ...

CASE REPORT We report a case of congenital tubular aggregate myopathy associated with retinal degeneration. COMMENTS Bilateral, asymmetric retinal degeneration developed in a 37-year-old woman with a history of congenital tubular aggregate myopathy. The major pathological feature was the presence of tubular aggregates, believed to arise from the sarcoplasmic reticulum, which are present in sk...

Anterior megalophthalmos is a developmental anomaly of the anterior ocular segment. This is an X-linked recessive disease and manifests as bilateral enlarged corneas, open iridocorneal angle, hypoplastic iris and dislocation and opacification of an apparently small lens. We have also observed obvious vitreoretinal degeneration in our patients. What may threaten visual acuity later is an op...

PURPOSE Follow-up of vascular changes in a patient with congenital retinocephalofacial vascular malformation syndrome. METHODS MRI and cerebral angiography. RESULTS In a 36-year-old man, magnetic resonance imaging of the skull and cerebral angiography revealed left intracranial arteriovenous malformations. Follow-up observation of 27 years revealed no essential change of retinal and cerebra...

A scotopic electroretinogram with an a-wave amplitude larger than the b-wave amplitude traditionally is termed 'negative'. Six male patients with negative photopic electroretinograms were examined; three of them suffered from progressive cone dystrophy, in which negative electroretinograms are unusual. Another patient without symptoms was the brother of a patient with cone dystrophy. These pati...

BACKGROUND Cytomegalovirus (CMV) is the most common congenital infection, and chorioretinitis is the most common ophthalmic manifestation of congenital CMV infection. We experienced a unique case of CMV retinopathy showing unusual retinal vessels. CASE PRESENTATION An infant boy weighing 1860 g was born at 36 weeks. He was diagnosed with severe symptomatic congenital CMV infection, which was ...

in this issue of irjo movassat et al1 (p: 33-38) present a case series of leber's congenital amaurosis (lca). lca is the most severe form of inherited retinal dystrophy responsible for congenital blindness with an early age of onset and accounts for at least 5% of all inherited retinal diseases which affect about one in 3500 individuals in the world. usually degenerative anomalies of the r...