Optic nerve coloboma with retinal degeneration associated with cystic microphthalmia of the other eye

In a seventy-five-year old man an optic nerve coloboma with generalised retinal degeneration associated with a cystic microphthalmia of the other eye is described. The MR imaging revealed the existence of a left microphthalmic eye with a lower lid cyst. From the other eye an optic nerve coloboma with a cystic ectasia of the coloboma area freely open to the vitreous cavity was apparent. The ERG recorded from this eye was extinguished.     

Monocular elevation deficiency with associated dextrocardia and situs inversus

A patient having monocular elevation deficiency with associated dextrocardia and situs inversus is reported. Review of the literature regarding ocular features described in association with dextrocardia is also presented.     

Nanophthalmos and situs inversus totalis

Nanophthalmos is characterized by short axial length, high hypermetropia, thick sclera and a normal-sized crystalline lens. Situs inversus totalis is the mirror image of the normal morphology of the thoracic and abdominal viscera. To the best of our knowledge this is the first report of a nanophthalmic patient with situs inversus totalis. Therefore, we would like to invite the attention of our colleagues to our case and underline the importance of the systemic examination of the nanophthalmic patients to detect systemic malformations and visceral transpositions.     

Optic disk and choroidal coloboma

Most of the optic nerve head abnormalities are clinically innocuous, but sometimes they can cause significant symptoms and lead to visual disturbance, or even to visual loss; optic pists can cause defects in the visual fields, not necessarily explicable by the serous maculopathy, that is the most important complication associated with optic pits. Our purpose is to present a case of an optic pit with sensory macular detachment associated with a choroidal coloboma located at a distance of two optic disc diameters from the optic nervehead. This finding to our knowledge has not been previously reported.     

Unilateral situs inversus of optic disc associated with reduced binocularity and stereoacuity resembling monofixation syndrome

Situs inversus of the optic disc is a rare, usually bilateral, congenital embryological abnormality associated with high myopia, optic disc coloboma or tilted optic disc. It is characterized by emergence of the retinal vessels in an anomalous direction with dysversion of the optic disc. In this report we present a 13-year-old boy diagnosed with isolated, unilateral situs inversus of the optic disc associated with reduced binocularity and stereoacuity resembling a monofixation syndrome. The clinicians should be aware of this association and assess the binocularity in patients with unilateral optic disc or macular anomalies. Conversely, patients with reduced binocularity and stereoacuity should be carefully evaluated for macular or optic nerve anomalies, if not associated with strabismus, anisometropia and eccentric fixation. Typical fundus picture, optical coherence tomography and multifocal electro retinogram of the patient would be instructive to a clinician.     

Optic nerve cyst associated with optic disk pits

Purpose To report a case with two optic disk pits which were associated with an optic nerve cyst in the same eye.Methods Observational case report.Results A 47-year-old patient noted visual impairment in the right eye. On examination the best corrected visual acuity in the right eye was 20/80 and in the left eye was 20/20. Biomicroscopy revealed, in the right eye, a very pale optic disk with two optic disk pits without macular elevation. Magnetic resonance imaging (MRI) revealed a well circumscribed 6×6-mm² round cystic lesion within the right optic nerve sheath adjacent to the temporal aspect of the right optic nerve at its retrobulbar segment, which compressed and displaced the nerve.Conclusions In the case of an extremely pale optic disk with congenital pits and visual impairment without macular detachment, radiological examination is indicated in order to exclude the possibility of coexisting optic nerve anomalies.     

Treatment of sensory retinal detachment associated with optic nerve pit or coloboma

Six eyes with optic nerve pit and associated sensory retinal detachment of the macula were treated using a management plan that utilized a combination of techniques including laser photocoagulation, pars plana vitrectomy, and intraocular air/fluid exchange. In each treated eye the retina was eventually flattened. This paper discusses this plan of management and series of treatment modalities.     

Choroidal neovascular membrane associated with optic nerve coloboma in a patient with CHARGE association

PURPOSE: To report a patient with CHARGE association (coloboma, heart disease, choanal atresia, growth retardation, genital hypoplasia, and ear abnormalities) who developed a choroidal neovascular membrane in association with an optic nerve coloboma. DESIGN: Interventional/observational case report. METHOD: A 21-month-old boy with CHARGE association developed a grayish choroidal neovascular membrane associated with lipid exudation, subretinal fluid, and retinal hemorrhage at the temporal edge of his right optic nerve coloboma. RESULTS: The patient underwent transpupillary diode laser of the choroidal neovascular membrane. Five months later, it and the serous retinal detachment had resolved. CONCLUSIONS: Patients with CHARGE association may develop choroidal neovascular membrane with serous retinal detachments in association with optic nerve colobomas. These neovascular membranes may be treated successfully with transpupillary diode laser.     

Optic nerve involvement associated with the multiple evanescent white-dot syndrome

Five patients presenting with signs and symptoms of primary optic nerve disease were, after careful examination, diagnosed as having the multiple evanescent white-dot syndrome. Optic nerve findings in these patients included disc edema, central visual loss, enlarged blind spots, and other optic nerve field defects. The subtlety of the white spots in some cases made the diagnosis difficult. Multiple evanescent white-dot syndrome should be considered in the differential diagnosis of young, healthy patients who present with unilateral or bilateral optic nerve dysfunction.     

Optic nerve head drusen associated with abnormally small optic discs

Summary Using Littmann's method for correcting the magnification of central fundus photographs we evaluated the absolute optic disc size in 26 eyes with visible optic nerve head drusen. The optic nerve head area in these eyes (1.79 + –0.50mm²) was significantly smaller (p<0.001) than normal standard values previously determined (2.89 + –0.76 mm²). The drusen were most commonly located and most densely packed at the upper and lower optic disc border. The coefficients of variation of the method's reproducibility were 0.06 for intraobserver and 0.11 for interobserver determination.The abnormally small optic disc indicating an abnormally small optic nerve scleral canal may inhibit by mechanical compression the axonal flow within the optic nerve fibers. This may ultimately lead to drusen formation. Pseudoneuritis also associated with an abnormally small optic disc may be a preceder of acquired optic nerve head drusen.This study was supported in part by the Deutsche Forschungsgemeinschaft, grant Nr. NA/55-4/1.     

Retinochoroidal coloboma associated with subretinal neovascularization

Reported herein are the cases of two patients who developed subretinal neovascularization at the margin of a retinochoroidal coloboma. Possible explanations for the occurrence of this previously unemphasized association are addressed.     

Retinitis pigmentosa patients with sickle cell disease and dextrocardia and situs inversus syndrome

Two cases of retinitis pigmentosa (RP) with associated sickle cell disease in one patient, and situs inversus totalis in the other are reported. To our best knowledge, these associations have never been reported in RP.