Two retinal vein occlusions in a patient with venous tortuosity at the optic disc

Background The aetiology of occlusion is thought to differ for branch retinal vein and central retinal vein types. This communication reports on an unusual presentation of two retinal vein occlusions in one eye of a patient with optic disc tortuosity where the occlusion was thought to occur at a site usually seen in central retinal vein occlusion. Methods An 88-year-old woman presented with sudden-onset painless loss of central vision. Fundal examination of the affected eye revealed one infero-temporal retinal vein occlusion affecting the macula and a second vein occlusion affecting the supero-nasal quadrant with associated optic disc tortuosity. She was investigated for cardiovascular risk factors. Results Treatment had already been started for systemic hypertension and blood markers were unremarkable. Conservative management was recommended. 12 weeks later, fluorescein angiography showed no ischaemia. Conclusion We report an unusual case of two co-existent and opposing retinal vein occlusions where obstruction was thought to occur at the trunk of the central retinal vein at or near the level of the lamina cribrosa, a site usually associated with the formation of hemi-vein or central retinal vein occlusion. This had occurred as a result of tortuous vasculature at the optic disc. This unusual case lends weight to previously suggested hypotheses of retinal vein occlusion. The authors have no financial or proprietary interest in any product mentioned in this article     

Axial myopia in eyes with optic nerve hypoplasia

Given that abnormal visual experience during post natal development interferes with emmetropization, we proposed that eyes with hypoplastic optic nerves were predisposed to the development of refractive errors. Six of 14 patients with unilateral optic nerve hypoplasia and 5 of 22 patients with bilateral involvement had at least 4 D of myopia. Nine of the 11 patients with asymmetric bilateral involvement had relative myopia in the eye with the more abnormal optic nerve; none of the patients with symmetric bilateral involvement had a significant interocular refractive difference. Analysis of axial length measurements obtained in 10 of the 11 patients with high myopia showed a significant increase in total axial length. The presumed normal eye of patients with unilateral involvement was significantly smaller than the mean value for age-adjusted normals. We suspect that visual input to the central nervous system is one of the feedback signals involved in the regulation of ocular growth.Presented in part at the annual meeting of the Association for Research in Vision and Ophthalmology, Sarasota, Florida, May 4, 1990Correspondence to: A.H. Weiss     

Superior segmental optic nerve hypoplasia: The topless disc syndrome

BackgroundOptic nerve hypoplasia is a well-known congenital maldevelopment presenting with an abnormally small optic nerve head occupying the central aspect of a normally sized chorioscleral canal. Characteristically, the optic nerve head is surrounded by scleral anlage with a “double ring sign.” Less commonly appreciated, however, is the fact that optic nerve hypoplasia may be sectorial rather than total and involving only the superior aspect of the optic disc with corresponding inferior visual field loss.Case ReportA 51-year-old woman presented with a previous diagnosis of idiopathic optic atrophy superiorly in the left eye. Detailed observation revealed that the disc was not atrophic superiorly but actually hypoplastic, and the patient received a conclusive diagnosis of superior segmental optic nerve hypoplasia.ConclusionsIt must be appreciated that optic nerve hypoplasia can also affect solely the superior aspect of the disc with subsequent functional deficits. It is important to differentiate this syndrome from true optic atrophy to ensure proper management.     

Aniridia and optic nerve hypoplasia

BACKGROUND: This study evaluates, in patients with aniridia, the prevalence of optic nerve hypoplasia and its association with foveal hypoplasia. METHODS: The medical records of 56 patients with aniridia (31 female, 25 male, mean age 33 years, range 2-74 years) were retrospectively evaluated for optic nerve and foveal hypoplasia. The difference in prevalence of foveal hypoplasia in patients with and without optic nerve hypoplasia was compared using Fisher's exact test. RESULTS: Six of 56 patients, 10.7% (95% CI: 4.8-21.5%), had optic nerve hypoplasia; hypoplasia was found in both eyes of five binocular patients and in one monocular patient. The prevalence of foveal hypoplasia was higher in aniridia patients with optic nerve hypoplasia than in those without (50.0 vs 6.0%); this difference did not achieve statistical significance (P=0.10). CONCLUSIONS: Clinically apparent optic nerve hypoplasia is found in roughly 10% of patients with aniridia and may occur independently or in association with foveal hypoplasia.     

Light-adapted electroretinograms in optic nerve hypoplasia

The purpose of the study is to characterise retinal function using light-adapted electroretinograms (ERGs) in a series of young children with ONH, congenital dysplasia of retinal ganglion cells. ERGs were recorded with chloral hydrate sedation in 27 children with ONH (18 with bilateral and 9 with unilateral ONH, age 4–35 months) and an adult reference population (n = 12). Stimuli included ISCEV standard flash, oscillatory potentials (OPs) and standard flicker as well as a light-adapted luminance–response series (photopic hill). The disc diameter to disc macula (DD:DM) ratio was measured from fundus photographs. The results are eyes with ONH, classified by DD:DM, were severe (≤0.15, n = 22), moderate (0.16–0.30, n = 22), mild (0.31–0.35, n = 1), and fellow eyes (>0.35, n = 9), all had prolonged ERG implicit times and smaller i-waves than those of adults. Eyes with moderate or severe ONH also had smaller amplitudes for OPs and flicker ERGs and required stronger flashes to obtain the peak b-wave amplitude. Abnormalities of the photopic hill were a common but inconsistent feature of ONH and were not indicative of ONH severity. Abnormalities of the photopic hill of the ERG suggest that some cases of ONH may have retinal dysfunction with specific deficits in the ON or OFF pathways of the retina. ONH is a complex and heterogeneous condition that may involve dysfunction distal to the retinal ganglion cells.     

Relative hypoplasia of the optic nerve

Meticulous comparison of optic nervehead size has revealed detectable differences in as many as 10% of patients. In many cases the larger nervehead has a larger cup. This may result in the false impression of glaucoma and may be the most common cause of asymmetric cupping in the absence of active, progressive disease. Two cases demonstrating this finding are reviewed with a discussion of its detection and diagnosis.     

Superior segmental optic nerve hypoplasia in youth

Purpose  The clinical characteristics of superior segmental optic nerve hypoplasia (SSOH) in youth were investigated to help establish diagnostic criteria. Methods  Eleven eyes of seven young patients (male/female ratio, 3/4; age, 15.1 ± 3.4 years) who had good visual acuity and inferior visual field defects (VFDs) were evaluated. Goldmann and Humphrey perimetries and optic disc morphology were analyzed, and the patients were prospectively followed for a long period. Results  Visual field defects were wedge shaped and oriented to the blind spot, but discontinuous in mild cases. Nerve fiber layer defects (NFLDs) were consistent with the VFDs. The optic disc appearance was variable, with double ring signs in seven eyes, small discs in three eyes, and an incomplete topless disc in one eye. The mothers of none of the patients had gestational diabetes. Visual field defects did not progress during the prospective 8.3 ± 1.3 years follow-up. Conclusions  Characteristic VFD patterns on Goldmann perimetry and corresponding NFLDs are important in the diagnosis of SSOH, but not optic disc morphology.     

Spectrum of optic nerve hypoplasia.

Optic nerve hypoplasia is a non-progressive condition characterised by subnormal vision and a subnormal number of optic nerve axons. It may be unilateral or bilateral, isolated or combined with other defects. Analysis of fundus photographs from a series of 7 patients with a stationary abnormality of different degrees showed that the functional defects could be closely correlated with defects in the retinal nerve fibre layer. Our observations show that the condition has a wide range of both functional and anatomical defects and that a subnormal diameter of the optic disc is not a requisite for the diagnosis. Presumably, there is also a wide variety of causes, not only a primary failure of development of retinal ganglion cells. We suggest that optic nerve hypoplasia can be viewed as a non-specific manifestation of damage to the visual system, sustained any time before its full development.     

Ophthalmic manifestations of Aarskog (facial-digital-genital) syndrome.

Four boys with facial-digital-genital or Aarskog syndrome were whort with triangular faces, characteristic deformities of the hands and feet, and anomalies of the external genitalia. The syndrome appears to be inherited in an X-chromosomes-limked recessive manner. Previous reports emphasized the presence of hypertelorism but careful measurements of the interorbital dimensions revealed primary telecanthus in addition to hypertelorism. The palpebral fissures had a marked antimongoloid obliquity and in half the reported cases, there was unilateral or bilateral congenital blepharoptosis. Strabismus, hyperopic astigmatism, and large corneas may be additional features.     

Absence of age-related optic disk changes in young children with optic nerve hypoplasia

Purpose

To determine whether the ratio of optic disk diameter to disk-to-macula distance (DD/DM) in children with optic nerve hypoplasia (ONH) changes over time.

Patients and methods

Fifteen subjects (29 eyes) enrolled in a prospective registry study on ONH had fundus photography performed under the age of 24 months and again at 60 months. Using the ratio of the DD/DM method, the relative size of the optic disk was assessed twice for each photo by one masked expert examiner to determine whether any change in relative disk size occurred over time.

Results

There was no change in relative optic disk size between initial and final fundus photographs. The average (±SD) age at the time of initial and final fundus photography was, respectively, 11.6±5.2 months and 60.6±1.3 months. Strong concordance was noted between the average DD/DM of the initial and the final photographs (ρ=0.939; 95% CI: 0.893, 0.981). There was negligible difference between the individual time point measurements (−0.011±0.03) (95% LOA: −0.07, 0.04).

Conclusion

There were no clinically significant changes in relative optic disk size over time in children with ONH; thus, DD/DM measurements need not be adjusted by age beyond 1 year in children with this disorder.     

The brightness-sense comparison in patients with optic nerve hypoplasia.

The brightness-sense has been assessed for a cohort of individuals with optic nerve hypoplasia, and for a group of normal subjects. It was found to be significantly impaired in the worst eye as compared to the fellow eye in patients with asymmetrical bilateral optic nerve hypoplasia. No difference in brightness between the two eyes was perceived in two patients with segmental optic nerve hypoplasia. The brightness-sense comparison test has not hitherto been applied to patients with optic nerve hypoplasia. The test is simple to use and provides an additional investigative tool for the clinician to detect optic nerve dysfunction.     

A case of amblyopia with contralateral optic nerve hypoplasia

We describe an unusual case of unilateral optic nerve hypoplasia (ONH) in a patient with contralateral anisometropic/strabismic amblyopia. A seven‐year‐old boy presented with visual acuities of 6/12 R and 6/18 L and eccentric fixation in the left eye. Cycloplegic retinoscopy was R +1.50/‐0.50 × 180 and L +5.25 DS. Funduscopy revealed optic nerve hypoplasia of the right eye. The patient fixated with his better‐seeing right eye, despite the optic nerve hypoplasia. His reduced vision may be attributed to optic nerve hypoplasia in the right eye and amblyopia in the left. Although optic nerve hypoplasia can occur with ipsilateral amblyopia, we believe this is the first reported case of unilateral optic nerve hypoplasia in the fellow eye of an amblyopic patient.     

Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome

We report a case of Donnai-Barrow syndrome in a 2-year-old boy who presented with exotropia and prominent eyes since birth. Ocular findings included high myopia, persistent pupillary membrane, and optic nerve hypoplasia. Facial manifestations included broad nasal bridge, hypertelorism, and downward-slanting of palpebral fissures. The patient had associated omphalocele, sensorineural hearing loss, and developmental delay. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported association of persistent pupillary membrane, strabismus, and optic nerve hypoplasia in a patient with Donnai-Barrow syndrome.     

Congenital hypoplasia of the optic nerve (author's transl)]

The authors investigated 7 children with developmental anomalies of the optic disc. In all cases a typical pattern of hypoplasia was observed. In all patients was found a very marked impairment of visual acuity or even blindness of the affected eye with most frequently squint and nystagmus. Besides ophthalmological investigation, neurological examination were carried out in these children and the Wassermann reaction was determined, together with tests for toxoplasmosis and radiograms of the optic foramina.