Hematologic biomarkers in childhood cataracts.

PURPOSE: To date, more than thirty nine genetic loci have been associated with congenital cataracts. Despite this progress, current diagnostic techniques are insufficient for unraveling the underlying genetic defect in sporadic patients and small families. In the present manuscript we demonstrate the contribution of routine laboratory tests in the search for genetic defects of childhood cataracts. METHODS: Two families with congenital cataracts and hematologic findings that included hyperferritinemia and the "ii" blood type underwent detailed ophthalmologic and clinical examinations. Mutation analysis of the ferritin light chain (FTL) and glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (GCNT2) genes was performed in the two families, respectively. RESULTS: In the family with the "ii" blood group we found a novel GCNT2 mutation c.G935A (p.G312D) in the cataract patients, while in the family with hyperferritinemia cataract syndrome we identified a G→C heterozygous mutation at position +32 of FTL. CONCLUSIONS: Hematologic biomarkers may simplify the search for the underlying molecular defect in families with congenital cataract.

Prevalence of central nervous system diseases--a large retrospective cohort study of adolescents.

At age sixteen, most Israeli nationals must undergo medical evaluation for compulsory military duty. All potential conscripts are referred to the Israel Defense Forces (IDF) recruiting office. Therefore, medical screening of a vast number of adolescents is performed, offering a unique opportunity to study the prevalence of neurological diseases in an entire age cohort. Hence, screening is not affected by diagnostic or methodological bias. We performed a retrospective neuroepidemiological large cohort study of adolescents from the database of the Israel Defense Forces recruiting office during the years 1998-2002. The survey included 409 492 adolescents, among them 162 079 (39.5%) females. The most prevalent diagnoses were: headache (754 per 10 000 adolescents), permanent brain damage (197 per 10 000), epilepsy (167 per 10 000) and movement and coordination disorders (36 per 10 000). These were followed by cranial nerve disorders, sleep disorders, cranio-spinal bone defects, and chronic progressive CNS disorders. The relative risk for male adolescents within the specific disease groups was higher for movement-coordination, sleep and cranial nerve disorders. Multivariate analysis revealed gender and severity prevalence and sex-grade, or year-grade interactions in the distinct groups of diseases. This study provides important information on the prevalence of neurological diseases in adolescents and demonstrates some significant epidemiological trends.

Eye-movement responses to disparity vergence stimuli with artificial monocular scotomas.

The effects of artificial monocular scotomas on eye-movement responses to horizontal disparity vergence stimuli were studied in six subjects with normal binocular vision. Subjects viewed stereoscopic 1.5 degrees horizontal step disparity vergence stimuli through liquid crystal shutter glasses. The central portion of the stimulus presented to the right eye was removed to simulate monocular artificial scotomas of variable diameters (2 degrees to 10 degrees ). Eye movements were recorded with a binocular head-mounted eye tracker. Responses included pure vergence, vergence followed by saccades, and pure saccadic eye movements. The rate of responses with saccadic eye movements increased with the diameter of the artificial scotoma (p < 0.0001); there was an increase in the rate of responses starting with saccades (p < 0.0001), as well as an increase in the rate of saccades after initial vergence responses (p < 0.01). The probability of saccades after initial vergence responses was affected by the open-loop gain of the vergence response (p < 0.001). The open-loop gain decreased with increased diameters of the artificial scotomas (p < 0.0001). As the diameter of the artificial scotomas increased, the amplitude of the initial vergence eye-movement responses decreased, and the prevalence of saccadic eye movements and asymmetric vergence increased. The effects of the diameter of artificial monocular scotomas on eye-movement responses in subjects with normal binocular vision are consistent with the effects of diameter of suppression scotomas on eye-movement responses to disparity vergence stimuli in patients with infantile esotropia.

Lateral rectus muscle disinsertion and reattachment to the lateral orbital wall.

BACKGROUND/AIMS: Surgical correction of ocular alignment in patients with third cranial nerve paralysis is challenging, as the unopposed lateral rectus muscle often pulls the eye back to exotropia following surgery. The authors present a simple surgical approach to overcome this difficulty. This approach is also applicable to removal of unwanted overactivity of the lateral rectus in Duane syndrome. METHODS: A review was made of the records of four patients with third cranial nerve paralysis and one with Duane syndrome with exotropia in which the lateral rectus muscle was removed from its scleral insertion and reattached to the orbital wall. Additional surgery to bring the eye to the midline included medial rectus resection, medial transposition of the vertical recti, and passive suturing of the eye to the medial orbit wall. RESULTS: All patients achieved satisfactory ocular alignment following surgery. Ocular ductions were limited. These results were stable for 1.5-4 years of follow up. No major complications occurred. CONCLUSION: Lateral rectus muscle disinsertion and reattachment to the orbital wall to absorb its force and thus remove abduction torque was a simple and safe surgical procedure for restoring ocular alignment in four patients with third cranial nerve paralysis and in one patient with Duane syndrome with severe exotropia.

Culture-proved disseminated cat-scratch disease in acquired immunodeficiency syndrome.

A male homosexual (positive for the human immunodeficiency virus) with a recent cat scratch developed fever, epitrochlear and axillary lymphadenopathy, and retinitis. Subsequently, he developed skin (epitheloid hemangioma) and mucosal lesions (Kaposi's sarcoma), multiple liver abscesses, and pleural effusion. Warthin-Starry stains and/or electron micrographs of lymph nodes and skin lesions demonstrated bacilli characteristic of those associated with cat-scratch disease. Cultures of lymph node, pleural fluid, and liver abscess specimens yielded organisms believed to be the causative agent of cat-scratch disease. We believe that disseminated cat-scratch disease may become an indicator of opportunistic infection signaling acquired immunodeficiency syndrome in a patient who is positive for the human immunodeficiency virus.

Streptococcus pneumoniae serotype 4 outbreak in a home for the aged: report and review of recent outbreaks.

OBJECTIVE: To describe a pneumonia outbreak caused by Streptococcus pneumoniae among residents of a home for the aged and to review contemporary pneumococcal outbreaks. DESIGN: Epidemiological investigation. METHODS: S pneumoniae isolates were serotyped and analyzed by pulsed-field gel electrophoresis. Paired sera were tested for antibodies to pneumococcal surface adhesin A protein (PsaA, a 37-kDa cell-wall protein). Pneumococcal outbreaks reported in the last decade in English were reviewed. RESULTS: Pneumonia developed in 18 of 200 residents. In 11 (61%), a pneumococcal etiology was demonstrated. S pneumoniae, serotype 4, was isolated from the blood cultures of 3 patients; all isolates were indistinguishable by pulsed-field gel electrophoresis. Pneumococcal involvement was established in 2 by sputum culture and latex agglutination of parapneumonic fluid and in 6 others by a twofold rise in optical density of serum antibody reactive to PsaA. Pneumococcal immunization had not previously been received by any patient; mortality was 22%. No additional cases were noted following administration of pneumococcal vaccine and antibiotic prophylaxis with penicillin or erythromycin. Twenty-six outbreaks of invasive pneumococcal disease since 1990 were reviewed. Twelve occurred in the United States, and serotypes 23F, 14, and 4 accounted for 8 (67%) of 12 outbreaks. All confirmed serotypes in US outbreaks are included in the 23-valent vaccine. More than one half of pneumococcal outbreaks worldwide involved elderly persons in hospitals or long-term-care facilities. CONCLUSIONS: A pneumococcal pneumonia outbreak occurred among unvaccinated residents of a residential facility for the aged. Institutionalized elderly persons are at risk of outbreaks of pneumococcal disease and should be vaccinated.

Corneal thickness and curvature in normal-tension glaucoma.

PURPOSE: To determine whether normal-tension glaucoma, defined as a condition in which glaucomatous optic nerve and visual field changes exist without documentation of intraocular pressure greater than 21 mm Hg or other apparent cause for these changes, is overdiagnosed in patients with decreased central corneal thickness and curvature. METHODS: Twenty-one patients with normal-tension glaucoma were compared with 25 patients with primary open-angle glaucoma and 27 age-matched healthy subjects. Corneal thickness was determined by ultrasonic pachymetry. Corneal curvature was determined using a keratometer. Eyes with corneal pathology or previous intraocular surgery were excluded. RESULTS: Mean corneal thickness +/- SD in 21 eyes of 21 patients with normal-tension glaucoma was 0.521 +/- 0.037 mm, significantly (P = .0028) lower than in 25 eyes of 25 patients with primary open-angle glaucoma (0.556 +/- 0.035 mm) and 27 eyes of 27 healthy subjects (0.555 +/- 0.034). Mean corneal curvature in the three groups was not appreciably different: 43.90 +/- 1.81 diopters, 43.66 +/- 1.68 diopters, and 44.36 +/- 1.13 diopters in the patients with normal-tension glaucoma and primary open-angle glaucoma and the healthy subjects, respectively. CONCLUSIONS: Corneal thickness is significantly reduced in patients with normal-tension glaucoma compared with patients with primary open-angle glaucoma (P = .0028) and normal subjects (P = .0037). This may lead to underestimation of intraocular pressure and misdiagnosis in some of these patients. Corneal curvature was similar in patients with normal-tension glaucoma and primary open-angle glaucoma and in healthy subjects.

Excimer laser phototherapeutic keratectomy for recurrent corneal erosion.

PURPOSE: To evaluate the outcome of excimer laser phototherapeutic keratectomy (PTK) for recurrent corneal erosion. SETTING: Laser Institute, Assay Harofeh Medical Center, Zerifin, Israel. METHODS: Twenty-three patients with a mean age of 50.56 years +/- 13.87 (SD) were referred between 1991 and 1995 for recurrent corneal erosion that did not respond to conservative treatment. All were treated by excimer laser PTK. Patients were interviewed and examined before and after treatment. RESULTS: Disease duration ranged from 2 months to 10 years. Frequency of attacks ranged from weekly to three to four times a year. Re-epithelialization of the cornea was established within an average of 3 days after PTK treatment. Follow-up was 12 to 60 months (mean 38.43 +/- 12.08 months). Nineteen (83%) patients were free of recurrences, and 3 had one recurrence treated successfully by patching. One patient who had two recurrences had a second PTK procedure and was symptom free for 14 months. No patient reported reduced visual acuity or quality. Postoperative best corrected visual acuity was unaltered in 21 eyes and improved in 2. There was no significant difference between preoperative and postoperative manifest refractions. CONCLUSION: Excimer laser PRK appears to be a safe and effective treatment for recurrent erosions of the cornea.

Pupillography as an objective indicator of fatigue.

PURPOSE: To determine whether parameters calculated from pupillary activity can identify subjects with sleep deprivation, and whether the objective values correlate with a subjective feeling of fatigue. METHODS: pupil size in the dark was recorded continuously for 10 minutes in 12 healthy volunteers using an infrared video camera. Two recordings were made for each subject: after a full night's sleep, and after 24 hours of sleep deprivation. Several parameters calculated from pupil size and activity were analyzed and compared with a subjective rating of the state of alertness provided by the participants in each test. RESULTS: All pupillary parameters differed significantly between alertness and fatigue (p = 0.0076-0. 0186). Changes in one of the parameters - average pupillary diameter - correlated with changes in the subjective level of sleepiness (r = -0.51, p = 0.028). Although the values of most parameters differed among subjects, an absolute value of more than 25 in one parameter, cumulative pupillary variability ratio, was always associated with sleep deprivation. CONCLUSION: On-line analysis of the pupillogram using the suggested parameters can be performed easily to produce a real-time assessment of an individual's state of alertness or fatigue that correlates with his/her subjective assessment of this state.

Incidental diagnosis of asymptomatic neonatal cholelithiasis: case report and literature review.

A case of asymptomatic cholelithiasis detected incidentally at the age of 3 days in an otherwise healthy newborn infant is presented. The hospitalization was uneventful. At follow-up the biliary stones had completely resolved at the age of 3 months with no symptoms. Fourteen similar cases of incidentally diagnosed neonatal cholelithiasis were found in the literature. Clinical course was benign; 12 cases (86%) were asymptomatic and eight (57%) had spontaneous resolution by the age of 6 months. We conclude that incidentally diagnosed neonatal cholelithiasis usually has a benign course with about a 50% chance of spontaneous resolution during the first 6 months of life. In cases of persistent gallstones by age 6 months, no treatment is needed except for long-term follow-up.

Medial transposition of the lateral rectus muscle in combined third and fourth nerve palsy.

Surgical treatment of combined third and fourth nerve palsy is a challenging problem in strabismology. Five of the 6 extraocular muscles are paralyzed, which leaves the lateral rectus muscle with no antagonist to counteract its activity and usually results in a maximal exotropia. The goal of surgery is to achieve orthophoria in primary position with limited ductions. Because some believe that a conventional recession-resection procedure will inevitably result in a drift back to exotropia,(1) several other methods have been proposed to treat this disorder. These include temporal mattress suture,(2) eye muscle prosthesis, (3,4) splitting and reattaching the lateral rectus muscle near the vortex veins,(5) and fixation of the eye with fascia lata.(6) Taylor(7) suggested using medial transposition of the lateral rectus muscle in a case of isolated third nerve palsy. We report the outcome of a procedure that included such a transposition for the treatment of combined third and fourth nerve palsy.

Visual acuity tests using chart, line, and single optotype in healthy and amblyopic children.

PURPOSE: The purpose of this study was to evaluate the difference between full chart, single line, and single optotypes visual acuity (VA) test results in healthy and amblyopic children. METHODS: Thirty-five children with amblyopia (20 with strabismus and 15 with anisometropia) and 40 ophthalmologically normal age-matched children were examined. The mean age of the patients in the study and control groups did not differ significantly (P= .9). A commercial projector that projected tumbling-E randomly placed optotypes was used. The VA of the amblyopic eye of the patients in the study group and the right eye of the patients in the control group was examined first using a full chart of optotypes, then using a single line of optotypes, and finally with individual symbols. The procedure was repeated with the other eye. RESULTS: LogMAR VA improved when the full chart was substituted with a single line, and improved by a similar increment further with single optotypes, in both the study and control groups. VA improved significantly more in eyes with amblyopia than in control subjects. Results were not influenced by age. CONCLUSION: VA testing using a single line gives better, sometimes misleading results, than tests with a full chart because it reduces but does not eliminate the crowding effect. When using a device that can employ more than 1 mode, the exacttest mode should be specified and maintained throughout the follow-up.

Unilateral recession and resection in Duane syndrome.

PURPOSE: To assess the efficacy of lateral rectus resection with medial rectus recession in the affected eye of patients with Duane retraction syndrome (DRS) with esotropia and limited abduction, compared with bilateral medial rectus recessions. METHODS: The charts of 9 patients with DRS who underwent a recession-resection procedure and 10 patients with DRS who underwent bilateral medial rectus recessions were reviewed. Ocular ductions (graded from 0 = full duction to -4 = total deficit), severity of retraction, alignment, head position, and binocular single vision field (for study group only) were recorded before and after surgery. RESULTS: Before surgery, the study and control groups did not differ in mean primary position esotropia (16.9 and 18.8 PD, respectively), face turn (16.5 degrees and 15.0 degrees, respectively), average limitation of abduction (-3.9 and -3.7, respectively), or adduction (-0.1 and -0.3, respectively). After surgery, both groups had similar mean face turns (3.9 degrees and 1.0 degrees ), esotropia (3.3 PD and 1.0 PD), and abduction limitation in the affected eye (-2.4 and -2.6). However, mean adduction was significantly worse in the control group than in the study group (-1.5 vs -0.6, P = .02). Globe retraction improved in all control subjects. It worsened in 5 study subjects and did not improve in the other 4. In the study group, 1 patient required reoperation for undercorrection and another was overcorrected. CONCLUSION: Seven of 9 patients with DRS, selected on the basis of esotropia, limited abduction, and mild retraction, benefited from a recession-resection procedure. Abduction improved to the same degree as seen after bilateral medial rectus recessions, with less tendency to limit adduction.

Outcome of inferior oblique recession with or without vertical rectus recession for unilateral superior oblique paresis.

PURPOSE: To determine the effectiveness of a standard fixed 10 mm inferior oblique (IO) recession with or without vertical rectus recession in visually mature patients with unilateral superior oblique paresis (SOP) and mild to moderate IO overaction. METHODS: The records of 24 patients over 12 years of age who had 10 mm IO recession for SOP, for IO overaction of +1 to +3 (out of maximum +4), with 6+ months of followup were reviewed. Criteria required for a "successful" outcome included: 1. hyperdeviation of 5delta or less in primary position; 2. elimination of any compensatory abnormal head posture; and 3. elimination of diplopia in the central 30 degrees of the binocular visual field. RESULTS: In 16 cases of IO recession alone, 88% were "successful" and in 8 cases who had in addition either contralateral inferior rectus recession or ipsilateral superior rectus recession, 75% were "successful". IO 10 mm recession alone led to an average reduction of 9.1 PD of hypertropia in primary position. CONCLUSION: A standard ungraded 10 mm recession of the IO alone or in combination with vertical rectus muscle recession is an effective weakening procedure with a high success rate for patients with unilateral SOP with mild to moderate IO overaction. In occasional cases of undercorrection, a subsequent IO myectomy is very feasible and effective.

Cutis marmorata telangiectatica congenita: clinical findings in 85 patients.

Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, sporadic, congenital cutaneous condition presenting with persistent cutis marmorata, telangiectasia, phlebectasia and possible ulceration of the involved skin, skin atrophy, and undergrowth of the involved extremity. To further the current understanding of this disorder, we analyzed the clinical features of a large series of patients with CMTC. The files of 85 patients with CMTC who were examined in our center over the last 20 years were reviewed. The data recorded included patient sex, age at onset, nature and distribution of the lesions, associated abnormalities, and course of disease. CMTC was characterized by early recognition of the lesions (94% at birth) and equal sex distribution. The lesion was unilateral in 65% of patients and most commonly involved the limbs (69%). Additional capillary lesions, noted in 20% of patients, may well have been an extension of the CMTC itself. Associated anomalies were found in 18.8% of patients. Almost half of the patients showed a definite improvement in the reticular vascular pattern on follow-up. No familial cases of CMTC were noted. CMTC is more prevalent than previously recognized, affects both sexes equally, and has a mostly localized distribution; additional vascular lesions are associated with the disorder, but other anomalies occur less often. Prognosis is generally good.

Management of meconium-stained neonates.

We examined the use of a new scoring system for the meconium-stained infant, which was designed to help the neonatologist decide on the appropriate therapeutic approach in the delivery room. Eighty meconium-stained infants were scored for: presence of fetal distress; meconium quality; performance of nasopharyngeal suctioning before the first breath and clinical condition in the first minute of life. Management consisted of gentle oropharyngeal suctioning or intubation and tracheal suctioning. Clinical outcome was compared with that of 100 meconium-stained infants born a year earlier. All babies in the control group underwent laryngoscopy and 30% were subsequently intubated. Universal laryngoscopy was not performed in the study group, and only 22.5% of these infants were intubated. The clinical outcome of the studied babies was identical to that of the newborns treated by the standard procedure. The use of the meconium intubation score eliminated the need for universal delivery room laryngoscopy for meconium-stained infants and significantly reduced the number of intubations performed.