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PubMed2004

Genotypic and phenotypic heterogeneity in familial microcoria.

AIMS: To describe the clinical features and genetic findings in two families presenting with microcoria inherited as an autosomal dominant trait. METHODS: Both affected and unaffected members of two families displaying familial microcoria were examined. Flash photography or infrared pupillography were used to assess pupils, and a full ophthalmic examination including visual acuity and field testing, refraction, biomicroscopy of anterior and posterior segments, and measurement of intraocular pressure were performed. DNA from the blood of affected and unaffected family members was investigated using standard markers to look for a possible gene defect in the chromosome 13q31-q32 region. RESULTS: All affected members of both families had pinpoint pupils which responded normally to light and accommodation. None of these subjects exhibited any other ocular abnormality. The iris of affected members showed stromal thinning and apparent absence of the iris dilator muscle in the first family, but was smooth and lacked all trabecular structure in the second family. The microcoria was present at birth in the first family but developed progressively at a later age in the second family. Haplotype analysis suggested the gene defect is not located in the chromosome 13q31-q32 region in the first family but the evidence was not conclusive in the second family. CONCLUSION: Although both families presented with similar pupil abnormalities inherited as an autosomal dominant trait, they show important phenotypic and genotypic differences suggesting that this is a heterogeneous condition. The possible mechanisms underlying the microcoria are discussed.

Adult↗
PubMed2004

Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features.

AIM: To evaluate the paradoxical pupillary constriction in darkness in patients with Pingelapese achromatopsia (PA), and to describe a connection between this phenomenon and the clinical features. METHODS: 27 patients with PA were examined. All underwent a full ophthalmic examination which included Snellen visual acuity and ophthalmoscopy. Colour vision examination was performed with Ishihara pseudoisochromatic plates and also with a colour plate consisting of five basic colours (red, green, purple, yellow, and orange). Paradoxical pupillary response was examined and documented with a special infrared video camera. Pupils' images were analysed using the Scion Image program and the ratio of pupil size in darkness to its size in light was calculated and recorded. RESULTS: Mean visual acuity was 20/400 (range 20/80-20/800). Colour vision examination showed a mean of 3.2 (SD 1.5) (range 1-5) of Ishihara colour plates, and 0.5 (0.75) (0-3) of basic colour plates. 23 patients (85%) had paradoxical pupillary constriction in darkness. Mean dark/light ratio of pupillary area was 0.86 (range 0.5-1.6). In patients with marked paradoxical pupillary constriction there was a significant correlation of visual acuity and Ishihara score. CONCLUSIONS: Clinical manifestations of achromatopsia include total colour blindness, low visual acuity (mean of 20/400), horizontal pendular or rotatory nystagmus, and photophobia. Most patients have paradoxical pupillary constriction in darkness. When this response is brisk it seems to correlate with lower visual acuity and lower Ishihara score.

Adolescent↗
PubMed2006

Quantification of retinal nerve fiber layer thickness reduction associated with a relative afferent pupillary defect in asymmetric glaucoma.

AIM: The relative afferent pupillary defect (RAPD) is an important clinical sign of asymmetrical retinal ganglion cell and axonal damage. Although glaucoma essentially affects bilateral eyes, a subset of patients manifests asymmetrical glaucomatous optic neuropathy (GON), which exhibits an RPAD in the more advanced eyes. However, the degree to which axonal loss occurs before an RAPD is clinically detectable has not been substantiated. The purpose of this study is to assess the relationship between the depth of a clinically detectable RAPD and the reduction ratio of retinal nerve fiber layer (RNFL) thickness in the more advanced eyes relative to that in the contralateral less advanced eyes of patients with asymmetrical GON. METHODS: Enrolled were 29 consecutive glaucoma patients with the clinically detectable RAPD. An RAPD was quantified by placing log-scaled neutral density filters over the less advanced eyes while performing the swinging flashlight test. Average RNFL thickness was determined using the Fast RNFL thickness programme of optical coherence tomography 3000. Correlation coefficient and Linear regression analyses were used in assessing the relationship between the RAPD and the ratio of RNFL thickness in the more advanced eyes relative to that in the less advanced. RESULTS: RAPD ranged from 0.6 to 2.4 log units. The log-scaled RAPD had a statistically significantly inversed correlation with the average RNFL thickness ratio (r(s) = -0.729, p<0.0001). Linear regression analysis found an equation that the average RNFL thickness ratio in the more affected eyes relative to that in the less advanced (%) = (0.827-0.169xRAPD (log units))x100 (R(2) = 0.557, p<0.0001). CONCLUSIONS: When an RAPD is clinically detected, the RNFL thickness in the more advanced eyes was in average reduced to about 73% of that in the less advanced.

Adolescent↗
PubMed1993

Clinical and infrared pupillometry in central retinal vein occlusion.

Measurements of pupillary reactivity and size were recorded using neutral density filters and infrared pupillometry (IRP) in a prospective masked study of acute central retinal vein occlusion (CRVO) to quantify the two methods of measurement and to compare their value in the prediction of rubeosis. Thirty two patients were examined within 45 days of disease onset. The mean relative afferent pupillary defect (RAPD) with filters was significantly greater in patients who developed rubeosis than in those who did not (0.9 vs 0.3 log units; p = 0.012). Using IRP, the pupillary diameters in the dark (maximum) and in the light (minimum) were significantly greater, the rate of pupillary constriction was significantly lower, and the latency of constriction was significantly greater in affected eyes than in unaffected eyes. The differences between affected and unaffected eyes in the IRP parameters of latency, rate, maximum, and minimum pupillary diameters were significantly greater in patients who developed rubeosis than in those who did not. Discriminant analysis of the IRP parameters correctly and statistically significantly identified rubeotic patients with 83% sensitivity and 95% specificity. An RAPD of > or = 0.6 log units was 83% sensitive and 70% specific in this regard. It is concluded that pupillary reactions are abnormal in many patients with acute CRVO, as measured by both pupillometric methods. The degree of these abnormalities has a relationship to the development of rubeosis, and might prove useful in planning the follow up of these patients or in deciding whether to apply panretinal photocoagulation. The neutral density filter test is readily available but subjective. IRP is more specific, objective, and suited to further development, but requires sophisticated equipment.

Aged↗
PubMed2000

Orbital arteriovenous malformation mimicking cavernous sinus dural arteriovenous malformation.

AIMS: Orbital arteriovenous malformations (OAVM) are rare, mostly described with high flow characteristics. Two cases are reported with an OAVM of distinct haemodynamic abnormality. The clinical, angiographic features, and the management considerations are discussed. METHODS: Case review of two patients with dural AVM (DAVM) who presented to referral neuro-ophthalmology and endovascular services because of clinical symptoms and signs consistent with a cavernous sinus dural AVM. RESULTS: In each patient, superselective angiography revealed a small slow flow intraorbital shunt supplied by the ophthalmic artery. The transarterial and transvenous endovascular approaches to treat the malformation were partially successful. Although, the abnormal flow was reduced, complete closure of the DAVM could not be accomplished without significant risk of iatrogenic injury. Neither patient's vision improved after intervention. CONCLUSION: A DAVM in the orbit can cause similar clinical symptoms and signs to those associated with a cavernous sinus DAVM. Even with high resolution magnetic resonance imaging, only superselective angiography can identify this small intraorbital slow flow shunt. The location in the orbital apex and the small size precludes a surgical option for treatment. The transarterial and transvenous embolisation options are limited.

Aged↗
PubMed2001

Pupillary autonomic denervation with increasing duration of diabetes mellitus.

BACKGROUND/AIMS: The autonomic pupillary changes in type I and II diabetic patients without clinical evidence of diabetic autonomic neuropathy (DAN) were compared with age matched controls. The relation between pupillary and cardiovascular autonomic function was assessed in the diabetic patients. METHODS: A case-control study was performed with diabetics grouped according to type and duration of diabetes. Static infrared pupillography was used to compare mean dark adapted pupil size and mean percentage changes in pupil size with pilocarpine 0.1% and cocaine 4% in the diabetic and control groups. All diabetic patients underwent cardiovascular autonomic function assessment using the Valsalva ratio, the 30:15 ratio, and testing for orthostatic hypotension. RESULTS: In total, 72 type I and 69 type II diabetic patients were compared with 120 controls. Mean dark adapted pupil size was significantly smaller in diabetic groups than controls. Except for type I diabetics with disease for less than 5 years, all patient groups had significantly greater mean percentage constriction in pupil size in response to dilute pilocarpine than controls. There was no significant difference between the mean percentage dilatation in response to cocaine 4% in diabetics and controls. A high proportion of patients had normal cardiovascular autonomic function particularly when this was assessed with the Valsalva ratio. CONCLUSIONS: Denervation hypersensitivity to dilute pilocarpine is a result of damage to the pupillary parasympathetic supply of diabetic patients. This occurs before the pupillary sympathetic pathway is affected, it can be detected early in the disease, and it may be a possible explanation for the small pupil size seen in diabetic patients. Pupillary autonomic dysfunction occurs before cardiovascular autonomic changes and detection of pupil denervation hypersensitivity to dilute pilocarpine is an inexpensive way to detect early DAN.

Adolescent↗
PubMed2002

Quantifying relative afferent pupillary defects using a Sbisa bar.

AIM: To compare the Sbisa bar (Bagolini filter bar) with neutral density filters (NDF) in quantifying relative afferent pupillary defects (RAPD). METHODS: 11 patients with a RAPD were graded and a neutral density filter bar was used to quantify the RAPD. This was repeated using the Sbisa bar. The Sbisa bar (Bagolini filter bar) is used by orthoptists to quantify density of suppression in amblyopia and is of a similar construct to NDFs. Before this clinical part of the study the luminance for each filter was measured, which enabled a direct comparison to be made. RESULTS: In the analysis of patients with RAPD a high correlation was found when comparing the Sbisa and NDF bars r = 0.95. This was statistically significant (p = <0.001). Correlation was also high when the luminance values for the filters were substituted for the clinical readings (r = 0.92; p=<0.001). CONCLUSION: The Sbisa bar is a comparable instrument to the NDF bar in measuring RAPD. Its availability in the clinical situation makes it a practical choice.

Female↗
PubMed2003

Pupillary block following posterior chamber intraocular lens implantation in adults.

BACKGROUND: Pupillary block rarely occurs after cataract extraction with posterior chamber intraocular lens implantation. METHODS: A series of six patients (seven eyes) treated for pupillary block after posterior chamber intraocular lens implantation between 1990 and 2001 is described; in one eye, the attack occurred after phacoemulsification. RESULTS: The interval between pupillary block development and the cataract surgery ranged from 1 day to 5 years. In all eyes, treatment consisted of neodymium-YAG laser peripheral iridotomy. In four eyes, the laser peripheral iridotomy relieved the block (one procedure in two; two to three procedures in two). One patient was also treated with YAG capsulotomy, and two patients needed additional surgical intervention. CONCLUSION: Despite the rarity of the complication of pupillary block after posterior chamber intraocular lens implantation, physicians should be aware of the sometimes difficult course of recovery after treatment.

Aged↗
PubMed1991

Outcome in children who nearly drown: a British Isles study.

OBJECTIVE: To determine the outcome in nearly drowned children in the British Isles and identify factors that might predict a poor prognosis. DESIGN: Study of drowned and of nearly drowned children aged less than or equal to 14. Information on nearly drowned children admitted to hospital obtained from consultant paediatricians returning monthly notification cards through the British Paediatric Surveillance Unit. Information on drowned children obtained from Office of Population Censuses and Surveys and other national epidemiological offices. SETTING: British Isles, 1988 and 1989. SUBJECTS: 330 children who had confirmed submersion incidents. 142 died before admission to hospital and 188 children were admitted after nearly drowning. MAIN OUTCOME MEASURES: Death, full recovery, or degree of handicap after near drowning and signs on admission to hospital. RESULTS: All of the children who were conscious on admission fully recovered. Of the 64 children unconscious on admission, 31 had normally reactive pupils and all but three (all of whom had severe preexisting neurological disease) recovered fully. Of the 33 children with fixed dilated pupils on admission, 10 fully recovered, 13 died, and 10 had severe neurological deficit. Spontaneous respiratory effect on admission was associated with normal survival. Pupils that remained dilated six hours after admission and fits continuing 24 hours after admission predicted a poor outcome. CONCLUSION: Children can survive normally after near drowning in the British Isles, particularly if they have been hypothermic. Resuscitation should not be abandoned in nearly drowned children until they have been rewarmed.

Adolescent↗
PubMed2006

Pupil findings in a consecutive series of 150 patients with generalised autonomic neuropathy.

AIM: To detect and characterise the pattern and extent of pupil abnormalities in patients with generalised autonomic failure. METHODS: A consecutive series of 150 patients referred for investigation of symptomatic generalised autonomic failure underwent pupil investigations. Infra-red video pupillography was used to measure resting pupil diameters in light and dark, the light reflex response, the miosis associated with an accommodative effort, and responses to topical administration of various pharmacological agents. The results were compared with data recorded under identical conditions from a cohort of 315 age-matched and sex-matched healthy controls. RESULTS: Overall, two thirds of patients had abnormal pupils (66%) with sympathetic deficit occurring twice as often as parasympathetic deficit. However, the prevalence and type of pupil abnormality showed wide variation according to aetiology--for example, almost all patients with amyloidosis had abnormal pupils, two thirds with pure autonomic failure but less than a quarter with multiple system atrophy. In most patients (85%), pupil abnormalities were bilateral and symmetrical, none had a Horner's syndrome in one eye and a tonic pupil in the other. No significant correlation between the type of pupil abnormality and the predominant type of systemic autonomic deficit was seen in most conditions. CONCLUSIONS: The pupils are often affected in autonomic neuropathy, although this is not always apparent either to the patient or to their doctors. Considerable care is needed not only to detect these abnormalities but also to interpret correctly the results of pupil tests in this group of patients.

Adolescent↗