B utterfly shaped macular dystrophy was first described by Deutman et al. in 1970. It is characterised by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium. Lesions consist of 3–5 ‘‘wings,’’ which resemble the wings of a butterfly. Affected patients present with a subnormal electrooculogram and normal or slightly diminished visual acuity. T...

In Chaharborj, a village in north-eastern ofthe Islamic Republic of Iran, a high prevalence of congenital blindness (1.1%) has been reported. The clinical findings have not been fully described. We therefore assessed the clinical aspects of this condition in a case series of 20 congenitally blind patients and 24 of their parents. All patients had been blind since birth. There was anterior segme...

Torpedo maculopathy was discovered in 2 children as a pointed-oval retinal pigment epithelial (RPE) defect in the temporal macula. This congenital finding could be related to the fetal temporal macular “bulge” that normally occurs at 4 to 6 months’ gestation at the same site. There are several congenital anomalies of the RPE, including congenital hypertrophy of the RPE (CHRPE), combined hamarto...

Aim: Presumed congenital simple retinal pigment epithelium hamartoma is a rare benign lesion of the macula that mimics congenital hypertrophy of the retinal pigment epithelium (RPE) and combined hamartoma of the retina and the RPE; newer imaging modalities can help in diagnosis. We report three patients with presumed congenital simple RPE hamartoma, and describe the enhanced-depth imaging optic...

AIMS To delineate the nature and frequency of ocular pathology in Rubinstein-Taybi syndrome (RTs). METHODS Literature was searched for reports describing ocular symptoms in patients with RTs. 24 RTs patients (out of a total of 73 Dutch known RTs individuals) were selected for ophthalmological and electrophysiological examination, selection being based only on the distance between a patient's ...

Background Degenerative retinal diseases, including age related macular degeneration, glaucoma, and hereditary retinal dystrophies are major causes of blindness. The principal defect in these diseases is cell loss which is amenable to both cell based neuroprotective and neuroregenerative therapies. To briefly review the lines of research and potential candidates for cell based therapies among ...

purpose: to evaluate the outcomes and complications of phacoemulsification and posterior chamber intraocular lens implantation (pe+pciol) in patients with congenital iris coloboma. methods: in a prospective noncomparative interventional case series, 13 eyes of 9 patients (six female and three male) with congenital iris coloboma and cataract underwent pe+pciol using clear corneal incision and in...