Ocular findings in Aicardi syndrome

During the last six years the author has seen three new cases of Aicardi's syndrome, which hitherto had only been diagnosed in a total of 15 to 20 cases. One child also had Handmann's anomaly (morning glory syndrome), another a disturbance of leucine metabolism. The ophthalmoscopic findings in the third child were pathogmonomic, so that it was possible to establish the diagnosis before the EEG showed the typical curves, and even before callosal agenesis was shown by CT or vertebral anomalies by X-ray examination.     

Ophthalmologic findings in 11 q-deletion syndrome

A 5-year-old boy with deletion of the long arm of chromosome 11 presented with trigonocephaly, bilateral ptosis, epicanthus, antimongoloid lid axes, and bilateral iris coloboma. In order to avoid complication by a torticollis a Guyton-Friedenwald fadenoperation was performed. In 1981 Grosse et al. listed among the pediatric symptoms retarded development, ventricular septum defect, mitral stenosis, and skeletal and urogenital anomalies.     

Ophthalmologic and electro-oculographic findings in Gardner's syndrome

We examined six patients with Gardner's syndrome, eight first-degree relatives, and 31 age- and sex-matched controls to document the presence, distribution, and morphologic features of congenital hypertrophy of the retinal pigment epithelium. Patients with Gardner's syndrome had multiple, bilateral lesions, with 288 of 346 foci (83%) located posterior to the equator. Linear-shaped congenital hypertrophy of the retinal pigment epithelium, a distinctive finding in these patients, accounted for 44 of 140 large lesions (31%). Despite multifocal fundus involvement, results of electro-oculography were normal in all eyes tested.     

Ophthalmologic findings in the Cornelia de Lange syndrome

Background: Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by multisystem abnormalities, including distinct ophthalmologic findings. In recent years, advances in molecular genetics have begun to provide new insight into the characterization of these clinical features and the genetic basis of the syndrome. Materials and methods: We included 37 articles that were identified through an electronic search in PubMed and through the reference lists of previously conducted reviews. Studies of 30 or more patients were used to report frequencies of common and less common findings. Genotype–phenotype studies were used to provide additional information when available. Results: Ocular anomalies are present in most patients with CdLS. Common findings include long eyelashes, synophrys, hirsutism of the eyebrows, peripapillary pigment ring, and myopia. Less common findings include hyperopia, ptosis, blepharitis, short palpebral fissure length, down-slanting palpebral fissures, mild microcornea, strabismus, nystagmus, and optic nerve abnormalities. Conclusions: This review provides a comprehensive summary of the ophthalmologic findings in CdLS. Mutations in certain genes may be associated with specific ocular abnormalities, although future genotype studies are needed to further characterize these relationships.     

Ophthalmologic findings in fifteen patients with Wolfram syndrome

PURPOSE: To look for ophthalmologic abnormalities in 15 patients with Wolfram syndrome, also known as DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). METHODS: Fifteen patients from four inbred families diagnosed as having Wolfram syndrome at the National Center for Diabetes, Endocrinology and Genetics, in Amman, Jordan, were evaluated ophthalmologically. Their examination included best-corrected visual acuity, color vision testing, pupillary light reflexes, slit-lamp biomicroscopy and fundus examination. Fundus fluorescein angiography was done in all patients. RESULTS: The prevalence of optic atrophy was (93.3%), colordefect (92.9%), cataract (66.6%), pigmentary retinopathy (30%) and diabetic retinopathy (20%). Abnormal pupillary light reflexes and nystagmus were also reported. CONCLUSIONS: Although ourgroup of patients was genetically heterogeneous, the ophthalmic findings are consistent with those reported in other series, except for cataract which was highly prevalent but mild and did not contribute significantly to loss of vision.     

Ophthalmologic findings in Cohen syndrome. A long-term follow-up

OBJECTIVE: To determine the nature and course of ophthalmologic abnormalities and their clinical significance in Cohen syndrome. STUDY DESIGN: Observational case series. PARTICIPANTS: Twenty-two Cohen syndrome patients aged 2 to 57 years were examined, and a retrospective review of ophthalmologic records was carried out for 14 of them. All but one were part of the Finnish study of refined mapping of the Cohen syndrome gene by linkage disequilibrium in chromosome 8. MAIN OUTCOME MEASURES: Visual acuity (VA), cycloplegic refraction, biomicroscopy, lens opacitometry, ophthalmoscopy, and fundus photography. RESULTS: With the exception of the two youngest patients, all had symptoms such as nyctalopia, impaired vision, and visual field loss. Progressive, often high-grade myopia, astigmatism, and retinochoroidal dystrophy resembling retinitis pigmentosa occurred in all, except for the youngest patients. The earliest fundus changes were pale disc and pale fundus with or without pigment granularity, followed by narrowed vessels, pigment clumps, and bone spiculelike pigment accumulations by 10 to 20 years of age. Pigment deposits increased and approached the posterior pole by 35 to 40 years of age. Patients more than 45 years of age had severe retinochoroidal atrophy. A bull's-eye macula was seen in most patients. Teenagers had peripheral lens opacities, and young adults had early nuclear sclerosis confirmed by lens opacitometry. Older patients also had posterior subcapsular cataracts, iris atrophy, and iridophacodonesis. Vision started to deteriorate at the age of 6 to 10 years, but remained relatively good (VA 0.5-0.1) in most patients until 30 and, in one case, 46 years of age. Older patients were severely visually handicapped (VA hand motion to light perception), but none were completely blind. CONCLUSIONS: Progressive myopia and retinochoroidal dystrophy are essential features in Cohen syndrome and, together with early lens opacities, lead to deterioration of vision. Cohen syndrome patients need careful ophthalmologic follow-up at all ages. Nyctalopia and restricted visual fields should be considered when planning the patient's daily activities.     

Ophthalmologic findings in malaria.

During the Vietnamese conflict, malaria in epidemic proportions constituted a serious health hazard to our forces. Although rarely encountered worldwide, Falciparum malaria proved to be an extremely lethal and dangerous complicating factor. Ophthalmologic complications of malaria are discussed and particular attention is placed on Falciparum malaria with the report of a case in detail and the presentation of unusual fundus findings.